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February 2021; 7 (1)

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A

  1. Adarmes, Astrid

    1. Open Access
      NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism
      Silvia Jesús, Isabel Hinarejos, Fátima Carrillo, Dolores Martínez-Rubio, Daniel Macías-García, Ana Sánchez-Monteagudo, Astrid Adarmes, Vincenzo Lupo, Belén Pérez-Dueñas, Pablo Mir, Carmen Espinós

  2. Ågren, Richard

    1. Open Access
      V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations
      Martin Paucar, Richard Ågren, Tianyi Li, Simon Lissmats, Åsa Bergendal, Jan Weinberg, Daniel Nilsson, Irina Savichetva, Kristoffer Sahlholm, Johanna Nilsson, Per Svenningsson

  3. Amador, Maria del Mar

    1. Open Access
      Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease
      Maria del Mar Amador, Marcela Gargiulo, Christilla Boucher, Ariane Herson, Stéphanie Staraci, François Salachas, Fabienne Clot, Cécile Cazeneuve, Isabelle Le Ber, Alexandra Durr

  4. Angelova, Lyudmilla

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  5. Aoki, Masashi

    1. Open Access
      Possible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral Sclerosis
      Shin Hisahara, Ayumi Nishiyama, Emiko Tsuda, Syuuichirou Suzuki, Akihiro Matsumura, Aki Ishikawa, Akihiro Sakurai, Ikuko N. Motoike, Masashi Aoki, Yoko Aoki, Shun Shimohama

  6. Aoki, Yoko

    1. Open Access
      Possible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral Sclerosis
      Shin Hisahara, Ayumi Nishiyama, Emiko Tsuda, Syuuichirou Suzuki, Akihiro Matsumura, Aki Ishikawa, Akihiro Sakurai, Ikuko N. Motoike, Masashi Aoki, Yoko Aoki, Shun Shimohama

  7. Arbuckle, Susan

    1. Open Access
      WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
      Leigh B. Waddell, Samantha J. Bryen, Beryl B. Cummings, Adam Bournazos, Frances J. Evesson, Himanshu Joshi, Jamie L. Marshall, Taru Tukiainen, Elise Valkanas, Ben Weisburd, Simon Sadedin, Mark R. Davis, Fathimath Faiz, Rebecca Gooding, Sarah A. Sandaradura, Gina L. O'Grady, Michel C. Tchan, David R. Mowat, Emily C. Oates, Michelle A. Farrar, Hugo Sampaio, Alan Ma, Katherine Neas, Min-Xia Wang, Amanda Charlton, Charles Chan, Diane N. Kenwright, Nicole Graf, Susan Arbuckle, Nigel F. Clarke, Daniel G. MacArthur, Kristi J. Jones, Monkol Lek, Sandra T. Cooper

B

  1. Bain, Jennifer M.

    1. Open Access
      Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder
      Jennifer M. Bain, Olivia Thornburg, Cheryl Pan, Donnielle Rome-Martin, Lia Boyle, Xiao Fan, Orrin Devinsky, Richard Frye, Silke Hamp, Cynthia G. Keator, Nicole M. LaMarca, Alexis B.R. Maddocks, Marcos Madruga-Garrido, Karen Y. Niederhoffer, Francesca Novara, Angela Peron, Elizabeth Poole-Di Salvo, Rachel Salazar, Steven A. Skinner, Gabriela Soares, Sylvie Goldman, Wendy K. Chung

  2. Barba, Carmen

    1. Open Access
      Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?
      Renzo Guerrini, Mara Cavallin, Tommaso Pippucci, Anna Rosati, Francesca Bisulli, Paola Dimartino, Carmen Barba, Rita Garbelli, Anna Maria Buccoliero, Laura Tassi, Valerio Conti

  3. Bensemmane, Selma Dounia

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  4. Bergendal, Åsa

    1. Open Access
      V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations
      Martin Paucar, Richard Ågren, Tianyi Li, Simon Lissmats, Åsa Bergendal, Jan Weinberg, Daniel Nilsson, Irina Savichetva, Kristoffer Sahlholm, Johanna Nilsson, Per Svenningsson

  5. Bisulli, Francesca

    1. Open Access
      Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?
      Renzo Guerrini, Mara Cavallin, Tommaso Pippucci, Anna Rosati, Francesca Bisulli, Paola Dimartino, Carmen Barba, Rita Garbelli, Anna Maria Buccoliero, Laura Tassi, Valerio Conti

  6. Bojinova, Veneta

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  7. Boucher, Christilla

    1. Open Access
      Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease
      Maria del Mar Amador, Marcela Gargiulo, Christilla Boucher, Ariane Herson, Stéphanie Staraci, François Salachas, Fabienne Clot, Cécile Cazeneuve, Isabelle Le Ber, Alexandra Durr

  8. Bournazos, Adam

    1. Open Access
      WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
      Leigh B. Waddell, Samantha J. Bryen, Beryl B. Cummings, Adam Bournazos, Frances J. Evesson, Himanshu Joshi, Jamie L. Marshall, Taru Tukiainen, Elise Valkanas, Ben Weisburd, Simon Sadedin, Mark R. Davis, Fathimath Faiz, Rebecca Gooding, Sarah A. Sandaradura, Gina L. O'Grady, Michel C. Tchan, David R. Mowat, Emily C. Oates, Michelle A. Farrar, Hugo Sampaio, Alan Ma, Katherine Neas, Min-Xia Wang, Amanda Charlton, Charles Chan, Diane N. Kenwright, Nicole Graf, Susan Arbuckle, Nigel F. Clarke, Daniel G. MacArthur, Kristi J. Jones, Monkol Lek, Sandra T. Cooper

  9. Boyle, Lia

    1. Open Access
      Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder
      Jennifer M. Bain, Olivia Thornburg, Cheryl Pan, Donnielle Rome-Martin, Lia Boyle, Xiao Fan, Orrin Devinsky, Richard Frye, Silke Hamp, Cynthia G. Keator, Nicole M. LaMarca, Alexis B.R. Maddocks, Marcos Madruga-Garrido, Karen Y. Niederhoffer, Francesca Novara, Angela Peron, Elizabeth Poole-Di Salvo, Rachel Salazar, Steven A. Skinner, Gabriela Soares, Sylvie Goldman, Wendy K. Chung

  10. Bryen, Samantha J.

    1. Open Access
      WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
      Leigh B. Waddell, Samantha J. Bryen, Beryl B. Cummings, Adam Bournazos, Frances J. Evesson, Himanshu Joshi, Jamie L. Marshall, Taru Tukiainen, Elise Valkanas, Ben Weisburd, Simon Sadedin, Mark R. Davis, Fathimath Faiz, Rebecca Gooding, Sarah A. Sandaradura, Gina L. O'Grady, Michel C. Tchan, David R. Mowat, Emily C. Oates, Michelle A. Farrar, Hugo Sampaio, Alan Ma, Katherine Neas, Min-Xia Wang, Amanda Charlton, Charles Chan, Diane N. Kenwright, Nicole Graf, Susan Arbuckle, Nigel F. Clarke, Daniel G. MacArthur, Kristi J. Jones, Monkol Lek, Sandra T. Cooper

  11. Buccoliero, Anna Maria

    1. Open Access
      Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?
      Renzo Guerrini, Mara Cavallin, Tommaso Pippucci, Anna Rosati, Francesca Bisulli, Paola Dimartino, Carmen Barba, Rita Garbelli, Anna Maria Buccoliero, Laura Tassi, Valerio Conti

  12. Burloiu, Carmen

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  13. Burnyte, Birute

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  14. Butoianu, Niculina

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

C

  1. Calame, Daniel G.

    1. Open Access
      EIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher Disease
      Daniel G. Calame, Meagan Hainlen, Danielle Takacs, Leah Ferrante, Kayla Pence, Lisa T. Emrick, Hsiao-Tuan Chao

  2. Carlson-Stadler, Zoe

    1. Open Access
      DMPK mRNA Expression in Human Brain Tissue Throughout the Lifespan
      Kathleen E. Langbehn, Zoe Carlson-Stadler, Ellen van der Plas, Marco M. Hefti, Jeffrey D. Dawson, David J. Moser, Peggy C. Nopoulos

  3. Carrillo, Fátima

    1. Open Access
      NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism
      Silvia Jesús, Isabel Hinarejos, Fátima Carrillo, Dolores Martínez-Rubio, Daniel Macías-García, Ana Sánchez-Monteagudo, Astrid Adarmes, Vincenzo Lupo, Belén Pérez-Dueñas, Pablo Mir, Carmen Espinós

  4. Cavallin, Mara

    1. Open Access
      Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?
      Renzo Guerrini, Mara Cavallin, Tommaso Pippucci, Anna Rosati, Francesca Bisulli, Paola Dimartino, Carmen Barba, Rita Garbelli, Anna Maria Buccoliero, Laura Tassi, Valerio Conti

  5. Cazeneuve, Cécile

    1. Open Access
      Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease
      Maria del Mar Amador, Marcela Gargiulo, Christilla Boucher, Ariane Herson, Stéphanie Staraci, François Salachas, Fabienne Clot, Cécile Cazeneuve, Isabelle Le Ber, Alexandra Durr

  6. Chan, Charles

    1. Open Access
      WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
      Leigh B. Waddell, Samantha J. Bryen, Beryl B. Cummings, Adam Bournazos, Frances J. Evesson, Himanshu Joshi, Jamie L. Marshall, Taru Tukiainen, Elise Valkanas, Ben Weisburd, Simon Sadedin, Mark R. Davis, Fathimath Faiz, Rebecca Gooding, Sarah A. Sandaradura, Gina L. O'Grady, Michel C. Tchan, David R. Mowat, Emily C. Oates, Michelle A. Farrar, Hugo Sampaio, Alan Ma, Katherine Neas, Min-Xia Wang, Amanda Charlton, Charles Chan, Diane N. Kenwright, Nicole Graf, Susan Arbuckle, Nigel F. Clarke, Daniel G. MacArthur, Kristi J. Jones, Monkol Lek, Sandra T. Cooper

  7. Chao, Hsiao-Tuan

    1. Open Access
      EIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher Disease
      Daniel G. Calame, Meagan Hainlen, Danielle Takacs, Leah Ferrante, Kayla Pence, Lisa T. Emrick, Hsiao-Tuan Chao

  8. Charlton, Amanda

    1. Open Access
      WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
      Leigh B. Waddell, Samantha J. Bryen, Beryl B. Cummings, Adam Bournazos, Frances J. Evesson, Himanshu Joshi, Jamie L. Marshall, Taru Tukiainen, Elise Valkanas, Ben Weisburd, Simon Sadedin, Mark R. Davis, Fathimath Faiz, Rebecca Gooding, Sarah A. Sandaradura, Gina L. O'Grady, Michel C. Tchan, David R. Mowat, Emily C. Oates, Michelle A. Farrar, Hugo Sampaio, Alan Ma, Katherine Neas, Min-Xia Wang, Amanda Charlton, Charles Chan, Diane N. Kenwright, Nicole Graf, Susan Arbuckle, Nigel F. Clarke, Daniel G. MacArthur, Kristi J. Jones, Monkol Lek, Sandra T. Cooper

  9. Chung, Wendy K.

    1. Open Access
      Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder
      Jennifer M. Bain, Olivia Thornburg, Cheryl Pan, Donnielle Rome-Martin, Lia Boyle, Xiao Fan, Orrin Devinsky, Richard Frye, Silke Hamp, Cynthia G. Keator, Nicole M. LaMarca, Alexis B.R. Maddocks, Marcos Madruga-Garrido, Karen Y. Niederhoffer, Francesca Novara, Angela Peron, Elizabeth Poole-Di Salvo, Rachel Salazar, Steven A. Skinner, Gabriela Soares, Sylvie Goldman, Wendy K. Chung

  10. Clarke, Nigel F.

    1. Open Access
      WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
      Leigh B. Waddell, Samantha J. Bryen, Beryl B. Cummings, Adam Bournazos, Frances J. Evesson, Himanshu Joshi, Jamie L. Marshall, Taru Tukiainen, Elise Valkanas, Ben Weisburd, Simon Sadedin, Mark R. Davis, Fathimath Faiz, Rebecca Gooding, Sarah A. Sandaradura, Gina L. O'Grady, Michel C. Tchan, David R. Mowat, Emily C. Oates, Michelle A. Farrar, Hugo Sampaio, Alan Ma, Katherine Neas, Min-Xia Wang, Amanda Charlton, Charles Chan, Diane N. Kenwright, Nicole Graf, Susan Arbuckle, Nigel F. Clarke, Daniel G. MacArthur, Kristi J. Jones, Monkol Lek, Sandra T. Cooper

  11. Clot, Fabienne

    1. Open Access
      Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease
      Maria del Mar Amador, Marcela Gargiulo, Christilla Boucher, Ariane Herson, Stéphanie Staraci, François Salachas, Fabienne Clot, Cécile Cazeneuve, Isabelle Le Ber, Alexandra Durr

  12. Conti, Valerio

    1. Open Access
      Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?
      Renzo Guerrini, Mara Cavallin, Tommaso Pippucci, Anna Rosati, Francesca Bisulli, Paola Dimartino, Carmen Barba, Rita Garbelli, Anna Maria Buccoliero, Laura Tassi, Valerio Conti

  13. Cooper, Sandra T.

    1. Open Access
      WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
      Leigh B. Waddell, Samantha J. Bryen, Beryl B. Cummings, Adam Bournazos, Frances J. Evesson, Himanshu Joshi, Jamie L. Marshall, Taru Tukiainen, Elise Valkanas, Ben Weisburd, Simon Sadedin, Mark R. Davis, Fathimath Faiz, Rebecca Gooding, Sarah A. Sandaradura, Gina L. O'Grady, Michel C. Tchan, David R. Mowat, Emily C. Oates, Michelle A. Farrar, Hugo Sampaio, Alan Ma, Katherine Neas, Min-Xia Wang, Amanda Charlton, Charles Chan, Diane N. Kenwright, Nicole Graf, Susan Arbuckle, Nigel F. Clarke, Daniel G. MacArthur, Kristi J. Jones, Monkol Lek, Sandra T. Cooper

  14. Cortese, Andrea

    1. Open Access
      Bedside Head Impulse Test: A Useful Tool for Patients With Sensory Ataxia
      Stefano Tozza, Andrea Cortese, Aniello Iovino, Marcello Esposito, Natalia Dominik, Rosa Iodice, Fiore Manganelli

  15. Cruccu, Giorgio

    1. Open Access
      Trigeminal Neuralgia TRPM8 MutationEnhanced Activation, Basal [Ca2+]i and Menthol Response
      Roberta Gualdani, Jun-Hui Yuan, Philip R. Effraim, Giulia Di Stefano, Andrea Truini, Giorgio Cruccu, Sulayman D. Dib-Hajj, Philippe Gailly, Stephen G. Waxman

  16. Cummings, Beryl B.

    1. Open Access
      WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
      Leigh B. Waddell, Samantha J. Bryen, Beryl B. Cummings, Adam Bournazos, Frances J. Evesson, Himanshu Joshi, Jamie L. Marshall, Taru Tukiainen, Elise Valkanas, Ben Weisburd, Simon Sadedin, Mark R. Davis, Fathimath Faiz, Rebecca Gooding, Sarah A. Sandaradura, Gina L. O'Grady, Michel C. Tchan, David R. Mowat, Emily C. Oates, Michelle A. Farrar, Hugo Sampaio, Alan Ma, Katherine Neas, Min-Xia Wang, Amanda Charlton, Charles Chan, Diane N. Kenwright, Nicole Graf, Susan Arbuckle, Nigel F. Clarke, Daniel G. MacArthur, Kristi J. Jones, Monkol Lek, Sandra T. Cooper

D

  1. D'Amore, Angelica

    1. Open Access
      Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7
      Marvin Ziegler, Bianca E. Russell, Kathrin Eberhardt, Gregory Geisel, Angelica D'Amore, Mustafa Sahin, Harley I. Kornblum, Darius Ebrahimi-Fakhari

  2. Davis, Mark R.

    1. Open Access
      WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
      Leigh B. Waddell, Samantha J. Bryen, Beryl B. Cummings, Adam Bournazos, Frances J. Evesson, Himanshu Joshi, Jamie L. Marshall, Taru Tukiainen, Elise Valkanas, Ben Weisburd, Simon Sadedin, Mark R. Davis, Fathimath Faiz, Rebecca Gooding, Sarah A. Sandaradura, Gina L. O'Grady, Michel C. Tchan, David R. Mowat, Emily C. Oates, Michelle A. Farrar, Hugo Sampaio, Alan Ma, Katherine Neas, Min-Xia Wang, Amanda Charlton, Charles Chan, Diane N. Kenwright, Nicole Graf, Susan Arbuckle, Nigel F. Clarke, Daniel G. MacArthur, Kristi J. Jones, Monkol Lek, Sandra T. Cooper

  3. Dawson, Jeffrey D.

    1. Open Access
      DMPK mRNA Expression in Human Brain Tissue Throughout the Lifespan
      Kathleen E. Langbehn, Zoe Carlson-Stadler, Ellen van der Plas, Marco M. Hefti, Jeffrey D. Dawson, David J. Moser, Peggy C. Nopoulos

  4. Delin, Sanja

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  5. Dendane, Oussama

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  6. Deng, Han-Xiang

    1. Open Access
      Does Somatic Mosaicism Account for Some Sporadic ALS?
      Éanna B. Ryan, Han-Xiang Deng

  7. Devinsky, Orrin

    1. Open Access
      Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder
      Jennifer M. Bain, Olivia Thornburg, Cheryl Pan, Donnielle Rome-Martin, Lia Boyle, Xiao Fan, Orrin Devinsky, Richard Frye, Silke Hamp, Cynthia G. Keator, Nicole M. LaMarca, Alexis B.R. Maddocks, Marcos Madruga-Garrido, Karen Y. Niederhoffer, Francesca Novara, Angela Peron, Elizabeth Poole-Di Salvo, Rachel Salazar, Steven A. Skinner, Gabriela Soares, Sylvie Goldman, Wendy K. Chung

  8. Dib-Hajj, Sulayman D.

    1. Open Access
      Trigeminal Neuralgia TRPM8 MutationEnhanced Activation, Basal [Ca2+]i and Menthol Response
      Roberta Gualdani, Jun-Hui Yuan, Philip R. Effraim, Giulia Di Stefano, Andrea Truini, Giorgio Cruccu, Sulayman D. Dib-Hajj, Philippe Gailly, Stephen G. Waxman

  9. Dimartino, Paola

    1. Open Access
      Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?
      Renzo Guerrini, Mara Cavallin, Tommaso Pippucci, Anna Rosati, Francesca Bisulli, Paola Dimartino, Carmen Barba, Rita Garbelli, Anna Maria Buccoliero, Laura Tassi, Valerio Conti

  10. Di Stefano, Giulia

    1. Open Access
      Trigeminal Neuralgia TRPM8 MutationEnhanced Activation, Basal [Ca2+]i and Menthol Response
      Roberta Gualdani, Jun-Hui Yuan, Philip R. Effraim, Giulia Di Stefano, Andrea Truini, Giorgio Cruccu, Sulayman D. Dib-Hajj, Philippe Gailly, Stephen G. Waxman

  11. Dominik, Natalia

    1. Open Access
      Bedside Head Impulse Test: A Useful Tool for Patients With Sensory Ataxia
      Stefano Tozza, Andrea Cortese, Aniello Iovino, Marcello Esposito, Natalia Dominik, Rosa Iodice, Fiore Manganelli

  12. Durr, Alexandra

    1. Open Access
      Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease
      Maria del Mar Amador, Marcela Gargiulo, Christilla Boucher, Ariane Herson, Stéphanie Staraci, François Salachas, Fabienne Clot, Cécile Cazeneuve, Isabelle Le Ber, Alexandra Durr

E

  1. Eberhardt, Kathrin

    1. Open Access
      Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7
      Marvin Ziegler, Bianca E. Russell, Kathrin Eberhardt, Gregory Geisel, Angelica D'Amore, Mustafa Sahin, Harley I. Kornblum, Darius Ebrahimi-Fakhari

  2. Ebrahimi-Fakhari, Darius

    1. Open Access
      Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7
      Marvin Ziegler, Bianca E. Russell, Kathrin Eberhardt, Gregory Geisel, Angelica D'Amore, Mustafa Sahin, Harley I. Kornblum, Darius Ebrahimi-Fakhari

  3. Effraim, Philip R.

    1. Open Access
      Trigeminal Neuralgia TRPM8 MutationEnhanced Activation, Basal [Ca2+]i and Menthol Response
      Roberta Gualdani, Jun-Hui Yuan, Philip R. Effraim, Giulia Di Stefano, Andrea Truini, Giorgio Cruccu, Sulayman D. Dib-Hajj, Philippe Gailly, Stephen G. Waxman

  4. Emandi, Adela Chirita

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  5. Emrick, Lisa T.

    1. Open Access
      EIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher Disease
      Daniel G. Calame, Meagan Hainlen, Danielle Takacs, Leah Ferrante, Kayla Pence, Lisa T. Emrick, Hsiao-Tuan Chao

  6. Englund, Elisabet

    1. Open Access
      MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor
      Andreea Ilinca, Elisabet Englund, Sofie Samuelsson, Katarina Truvé, Efthymia Kafantari, Nicolas Martinez-Majander, Jukka Putaala, Claes Håkansson, Arne G. Lindgren, Andreas Puschmann

  7. Epure, Diana

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  8. Espinós, Carmen

    1. Open Access
      NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism
      Silvia Jesús, Isabel Hinarejos, Fátima Carrillo, Dolores Martínez-Rubio, Daniel Macías-García, Ana Sánchez-Monteagudo, Astrid Adarmes, Vincenzo Lupo, Belén Pérez-Dueñas, Pablo Mir, Carmen Espinós

  9. Esposito, Marcello

    1. Open Access
      Bedside Head Impulse Test: A Useful Tool for Patients With Sensory Ataxia
      Stefano Tozza, Andrea Cortese, Aniello Iovino, Marcello Esposito, Natalia Dominik, Rosa Iodice, Fiore Manganelli

  10. Evesson, Frances J.

    1. Open Access
      WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
      Leigh B. Waddell, Samantha J. Bryen, Beryl B. Cummings, Adam Bournazos, Frances J. Evesson, Himanshu Joshi, Jamie L. Marshall, Taru Tukiainen, Elise Valkanas, Ben Weisburd, Simon Sadedin, Mark R. Davis, Fathimath Faiz, Rebecca Gooding, Sarah A. Sandaradura, Gina L. O'Grady, Michel C. Tchan, David R. Mowat, Emily C. Oates, Michelle A. Farrar, Hugo Sampaio, Alan Ma, Katherine Neas, Min-Xia Wang, Amanda Charlton, Charles Chan, Diane N. Kenwright, Nicole Graf, Susan Arbuckle, Nigel F. Clarke, Daniel G. MacArthur, Kristi J. Jones, Monkol Lek, Sandra T. Cooper

F

  1. Faiz, Fathimath

    1. Open Access
      WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
      Leigh B. Waddell, Samantha J. Bryen, Beryl B. Cummings, Adam Bournazos, Frances J. Evesson, Himanshu Joshi, Jamie L. Marshall, Taru Tukiainen, Elise Valkanas, Ben Weisburd, Simon Sadedin, Mark R. Davis, Fathimath Faiz, Rebecca Gooding, Sarah A. Sandaradura, Gina L. O'Grady, Michel C. Tchan, David R. Mowat, Emily C. Oates, Michelle A. Farrar, Hugo Sampaio, Alan Ma, Katherine Neas, Min-Xia Wang, Amanda Charlton, Charles Chan, Diane N. Kenwright, Nicole Graf, Susan Arbuckle, Nigel F. Clarke, Daniel G. MacArthur, Kristi J. Jones, Monkol Lek, Sandra T. Cooper

  2. Fan, Xiao

    1. Open Access
      Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder
      Jennifer M. Bain, Olivia Thornburg, Cheryl Pan, Donnielle Rome-Martin, Lia Boyle, Xiao Fan, Orrin Devinsky, Richard Frye, Silke Hamp, Cynthia G. Keator, Nicole M. LaMarca, Alexis B.R. Maddocks, Marcos Madruga-Garrido, Karen Y. Niederhoffer, Francesca Novara, Angela Peron, Elizabeth Poole-Di Salvo, Rachel Salazar, Steven A. Skinner, Gabriela Soares, Sylvie Goldman, Wendy K. Chung

  3. Fang, Mingyan

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  4. Farrar, Michelle A.

    1. Open Access
      WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
      Leigh B. Waddell, Samantha J. Bryen, Beryl B. Cummings, Adam Bournazos, Frances J. Evesson, Himanshu Joshi, Jamie L. Marshall, Taru Tukiainen, Elise Valkanas, Ben Weisburd, Simon Sadedin, Mark R. Davis, Fathimath Faiz, Rebecca Gooding, Sarah A. Sandaradura, Gina L. O'Grady, Michel C. Tchan, David R. Mowat, Emily C. Oates, Michelle A. Farrar, Hugo Sampaio, Alan Ma, Katherine Neas, Min-Xia Wang, Amanda Charlton, Charles Chan, Diane N. Kenwright, Nicole Graf, Susan Arbuckle, Nigel F. Clarke, Daniel G. MacArthur, Kristi J. Jones, Monkol Lek, Sandra T. Cooper

  5. Fekete, Balint

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  6. Ferlini, Alessandra

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  7. Ferrante, Leah

    1. Open Access
      EIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher Disease
      Daniel G. Calame, Meagan Hainlen, Danielle Takacs, Leah Ferrante, Kayla Pence, Lisa T. Emrick, Hsiao-Tuan Chao

  8. Fortunato, Fernanda

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  9. Frye, Richard

    1. Open Access
      Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder
      Jennifer M. Bain, Olivia Thornburg, Cheryl Pan, Donnielle Rome-Martin, Lia Boyle, Xiao Fan, Orrin Devinsky, Richard Frye, Silke Hamp, Cynthia G. Keator, Nicole M. LaMarca, Alexis B.R. Maddocks, Marcos Madruga-Garrido, Karen Y. Niederhoffer, Francesca Novara, Angela Peron, Elizabeth Poole-Di Salvo, Rachel Salazar, Steven A. Skinner, Gabriela Soares, Sylvie Goldman, Wendy K. Chung

  10. Fureš, Jadranka Sekelj

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

G

  1. Gailly, Philippe

    1. Open Access
      Trigeminal Neuralgia TRPM8 MutationEnhanced Activation, Basal [Ca2+]i and Menthol Response
      Roberta Gualdani, Jun-Hui Yuan, Philip R. Effraim, Giulia Di Stefano, Andrea Truini, Giorgio Cruccu, Sulayman D. Dib-Hajj, Philippe Gailly, Stephen G. Waxman

  2. Garbelli, Rita

    1. Open Access
      Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?
      Renzo Guerrini, Mara Cavallin, Tommaso Pippucci, Anna Rosati, Francesca Bisulli, Paola Dimartino, Carmen Barba, Rita Garbelli, Anna Maria Buccoliero, Laura Tassi, Valerio Conti

  3. Gargiulo, Marcela

    1. Open Access
      Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease
      Maria del Mar Amador, Marcela Gargiulo, Christilla Boucher, Ariane Herson, Stéphanie Staraci, François Salachas, Fabienne Clot, Cécile Cazeneuve, Isabelle Le Ber, Alexandra Durr

  4. Geisel, Gregory

    1. Open Access
      Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7
      Marvin Ziegler, Bianca E. Russell, Kathrin Eberhardt, Gregory Geisel, Angelica D'Amore, Mustafa Sahin, Harley I. Kornblum, Darius Ebrahimi-Fakhari

  5. Goldman, Sylvie

    1. Open Access
      Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder
      Jennifer M. Bain, Olivia Thornburg, Cheryl Pan, Donnielle Rome-Martin, Lia Boyle, Xiao Fan, Orrin Devinsky, Richard Frye, Silke Hamp, Cynthia G. Keator, Nicole M. LaMarca, Alexis B.R. Maddocks, Marcos Madruga-Garrido, Karen Y. Niederhoffer, Francesca Novara, Angela Peron, Elizabeth Poole-Di Salvo, Rachel Salazar, Steven A. Skinner, Gabriela Soares, Sylvie Goldman, Wendy K. Chung

  6. Gooding, Rebecca

    1. Open Access
      WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
      Leigh B. Waddell, Samantha J. Bryen, Beryl B. Cummings, Adam Bournazos, Frances J. Evesson, Himanshu Joshi, Jamie L. Marshall, Taru Tukiainen, Elise Valkanas, Ben Weisburd, Simon Sadedin, Mark R. Davis, Fathimath Faiz, Rebecca Gooding, Sarah A. Sandaradura, Gina L. O'Grady, Michel C. Tchan, David R. Mowat, Emily C. Oates, Michelle A. Farrar, Hugo Sampaio, Alan Ma, Katherine Neas, Min-Xia Wang, Amanda Charlton, Charles Chan, Diane N. Kenwright, Nicole Graf, Susan Arbuckle, Nigel F. Clarke, Daniel G. MacArthur, Kristi J. Jones, Monkol Lek, Sandra T. Cooper

  7. Graf, Nicole

    1. Open Access
      WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
      Leigh B. Waddell, Samantha J. Bryen, Beryl B. Cummings, Adam Bournazos, Frances J. Evesson, Himanshu Joshi, Jamie L. Marshall, Taru Tukiainen, Elise Valkanas, Ben Weisburd, Simon Sadedin, Mark R. Davis, Fathimath Faiz, Rebecca Gooding, Sarah A. Sandaradura, Gina L. O'Grady, Michel C. Tchan, David R. Mowat, Emily C. Oates, Michelle A. Farrar, Hugo Sampaio, Alan Ma, Katherine Neas, Min-Xia Wang, Amanda Charlton, Charles Chan, Diane N. Kenwright, Nicole Graf, Susan Arbuckle, Nigel F. Clarke, Daniel G. MacArthur, Kristi J. Jones, Monkol Lek, Sandra T. Cooper

  8. Gualandi, Francesca

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  9. Gualdani, Roberta

    1. Open Access
      Trigeminal Neuralgia TRPM8 MutationEnhanced Activation, Basal [Ca2+]i and Menthol Response
      Roberta Gualdani, Jun-Hui Yuan, Philip R. Effraim, Giulia Di Stefano, Andrea Truini, Giorgio Cruccu, Sulayman D. Dib-Hajj, Philippe Gailly, Stephen G. Waxman

  10. Guergueltcheva, Velina

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  11. Guerin, Andrea

    1. Open Access
      New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra
      Annelise Y. Mah-Som, Cristina Skrypnyk, Andrea Guerin, Raafat Hammad Seroor Jadah, Vinayak Nivrutti Vardhan, Robert C. McKinstry, Marwan S. Shinawi

  12. Guerrini, Renzo

    1. Open Access
      Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?
      Renzo Guerrini, Mara Cavallin, Tommaso Pippucci, Anna Rosati, Francesca Bisulli, Paola Dimartino, Carmen Barba, Rita Garbelli, Anna Maria Buccoliero, Laura Tassi, Valerio Conti

H

  1. Hainlen, Meagan

    1. Open Access
      EIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher Disease
      Daniel G. Calame, Meagan Hainlen, Danielle Takacs, Leah Ferrante, Kayla Pence, Lisa T. Emrick, Hsiao-Tuan Chao

  2. Håkansson, Claes

    1. Open Access
      MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor
      Andreea Ilinca, Elisabet Englund, Sofie Samuelsson, Katarina Truvé, Efthymia Kafantari, Nicolas Martinez-Majander, Jukka Putaala, Claes Håkansson, Arne G. Lindgren, Andreas Puschmann

  3. Hamp, Silke

    1. Open Access
      Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder
      Jennifer M. Bain, Olivia Thornburg, Cheryl Pan, Donnielle Rome-Martin, Lia Boyle, Xiao Fan, Orrin Devinsky, Richard Frye, Silke Hamp, Cynthia G. Keator, Nicole M. LaMarca, Alexis B.R. Maddocks, Marcos Madruga-Garrido, Karen Y. Niederhoffer, Francesca Novara, Angela Peron, Elizabeth Poole-Di Salvo, Rachel Salazar, Steven A. Skinner, Gabriela Soares, Sylvie Goldman, Wendy K. Chung

  4. Hefti, Marco M.

    1. Open Access
      DMPK mRNA Expression in Human Brain Tissue Throughout the Lifespan
      Kathleen E. Langbehn, Zoe Carlson-Stadler, Ellen van der Plas, Marco M. Hefti, Jeffrey D. Dawson, David J. Moser, Peggy C. Nopoulos

  5. Herczegfalvi, Agnes

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  6. Herson, Ariane

    1. Open Access
      Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease
      Maria del Mar Amador, Marcela Gargiulo, Christilla Boucher, Ariane Herson, Stéphanie Staraci, François Salachas, Fabienne Clot, Cécile Cazeneuve, Isabelle Le Ber, Alexandra Durr

  7. Hinarejos, Isabel

    1. Open Access
      NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism
      Silvia Jesús, Isabel Hinarejos, Fátima Carrillo, Dolores Martínez-Rubio, Daniel Macías-García, Ana Sánchez-Monteagudo, Astrid Adarmes, Vincenzo Lupo, Belén Pérez-Dueñas, Pablo Mir, Carmen Espinós

  8. Hisahara, Shin

    1. Open Access
      Possible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral Sclerosis
      Shin Hisahara, Ayumi Nishiyama, Emiko Tsuda, Syuuichirou Suzuki, Akihiro Matsumura, Aki Ishikawa, Akihiro Sakurai, Ikuko N. Motoike, Masashi Aoki, Yoko Aoki, Shun Shimohama

I

  1. Ilinca, Andreea

    1. Open Access
      MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor
      Andreea Ilinca, Elisabet Englund, Sofie Samuelsson, Katarina Truvé, Efthymia Kafantari, Nicolas Martinez-Majander, Jukka Putaala, Claes Håkansson, Arne G. Lindgren, Andreas Puschmann

  2. Imbimbo, Bruno P.

    1. Open Access
      Can Anti–β-amyloid Monoclonal Antibodies Work in Autosomal Dominant Alzheimer Disease?
      Bruno P. Imbimbo, Ugo Lucca, Mark Watling

  3. Iodice, Rosa

    1. Open Access
      Bedside Head Impulse Test: A Useful Tool for Patients With Sensory Ataxia
      Stefano Tozza, Andrea Cortese, Aniello Iovino, Marcello Esposito, Natalia Dominik, Rosa Iodice, Fiore Manganelli

  4. Iovino, Aniello

    1. Open Access
      Bedside Head Impulse Test: A Useful Tool for Patients With Sensory Ataxia
      Stefano Tozza, Andrea Cortese, Aniello Iovino, Marcello Esposito, Natalia Dominik, Rosa Iodice, Fiore Manganelli

  5. Ishikawa, Aki

    1. Open Access
      Possible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral Sclerosis
      Shin Hisahara, Ayumi Nishiyama, Emiko Tsuda, Syuuichirou Suzuki, Akihiro Matsumura, Aki Ishikawa, Akihiro Sakurai, Ikuko N. Motoike, Masashi Aoki, Yoko Aoki, Shun Shimohama

  6. Iuhas, Oana Alexandra

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  7. Ivanov, Ivan

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

J

  1. Jayadev, Suman

    1. Open Access
      Neurology: Genetics Year in Review
      Stefan Pulst, Massimo Pandolfo, Raymond Roos, Margherita Milone, Suman Jayadev

  2. Jesús, Silvia

    1. Open Access
      NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism
      Silvia Jesús, Isabel Hinarejos, Fátima Carrillo, Dolores Martínez-Rubio, Daniel Macías-García, Ana Sánchez-Monteagudo, Astrid Adarmes, Vincenzo Lupo, Belén Pérez-Dueñas, Pablo Mir, Carmen Espinós

  3. Jones, Kristi J.

    1. Open Access
      WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
      Leigh B. Waddell, Samantha J. Bryen, Beryl B. Cummings, Adam Bournazos, Frances J. Evesson, Himanshu Joshi, Jamie L. Marshall, Taru Tukiainen, Elise Valkanas, Ben Weisburd, Simon Sadedin, Mark R. Davis, Fathimath Faiz, Rebecca Gooding, Sarah A. Sandaradura, Gina L. O'Grady, Michel C. Tchan, David R. Mowat, Emily C. Oates, Michelle A. Farrar, Hugo Sampaio, Alan Ma, Katherine Neas, Min-Xia Wang, Amanda Charlton, Charles Chan, Diane N. Kenwright, Nicole Graf, Susan Arbuckle, Nigel F. Clarke, Daniel G. MacArthur, Kristi J. Jones, Monkol Lek, Sandra T. Cooper

  4. Joshi, Himanshu

    1. Open Access
      WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
      Leigh B. Waddell, Samantha J. Bryen, Beryl B. Cummings, Adam Bournazos, Frances J. Evesson, Himanshu Joshi, Jamie L. Marshall, Taru Tukiainen, Elise Valkanas, Ben Weisburd, Simon Sadedin, Mark R. Davis, Fathimath Faiz, Rebecca Gooding, Sarah A. Sandaradura, Gina L. O'Grady, Michel C. Tchan, David R. Mowat, Emily C. Oates, Michelle A. Farrar, Hugo Sampaio, Alan Ma, Katherine Neas, Min-Xia Wang, Amanda Charlton, Charles Chan, Diane N. Kenwright, Nicole Graf, Susan Arbuckle, Nigel F. Clarke, Daniel G. MacArthur, Kristi J. Jones, Monkol Lek, Sandra T. Cooper

K

  1. Kafantari, Efthymia

    1. Open Access
      MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor
      Andreea Ilinca, Elisabet Englund, Sofie Samuelsson, Katarina Truvé, Efthymia Kafantari, Nicolas Martinez-Majander, Jukka Putaala, Claes Håkansson, Arne G. Lindgren, Andreas Puschmann

  2. Keator, Cynthia G.

    1. Open Access
      Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder
      Jennifer M. Bain, Olivia Thornburg, Cheryl Pan, Donnielle Rome-Martin, Lia Boyle, Xiao Fan, Orrin Devinsky, Richard Frye, Silke Hamp, Cynthia G. Keator, Nicole M. LaMarca, Alexis B.R. Maddocks, Marcos Madruga-Garrido, Karen Y. Niederhoffer, Francesca Novara, Angela Peron, Elizabeth Poole-Di Salvo, Rachel Salazar, Steven A. Skinner, Gabriela Soares, Sylvie Goldman, Wendy K. Chung

  3. Kenwright, Diane N.

    1. Open Access
      WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
      Leigh B. Waddell, Samantha J. Bryen, Beryl B. Cummings, Adam Bournazos, Frances J. Evesson, Himanshu Joshi, Jamie L. Marshall, Taru Tukiainen, Elise Valkanas, Ben Weisburd, Simon Sadedin, Mark R. Davis, Fathimath Faiz, Rebecca Gooding, Sarah A. Sandaradura, Gina L. O'Grady, Michel C. Tchan, David R. Mowat, Emily C. Oates, Michelle A. Farrar, Hugo Sampaio, Alan Ma, Katherine Neas, Min-Xia Wang, Amanda Charlton, Charles Chan, Diane N. Kenwright, Nicole Graf, Susan Arbuckle, Nigel F. Clarke, Daniel G. MacArthur, Kristi J. Jones, Monkol Lek, Sandra T. Cooper

  4. Khelladi, Djawed Bouchenak

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  5. Kornblum, Harley I.

    1. Open Access
      Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7
      Marvin Ziegler, Bianca E. Russell, Kathrin Eberhardt, Gregory Geisel, Angelica D'Amore, Mustafa Sahin, Harley I. Kornblum, Darius Ebrahimi-Fakhari

  6. Kostera-Pruszczyk, Anna

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  7. Kyriakides, Theodore

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

L

  1. Lacramioara, Butnariu

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  2. LaMarca, Nicole M.

    1. Open Access
      Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder
      Jennifer M. Bain, Olivia Thornburg, Cheryl Pan, Donnielle Rome-Martin, Lia Boyle, Xiao Fan, Orrin Devinsky, Richard Frye, Silke Hamp, Cynthia G. Keator, Nicole M. LaMarca, Alexis B.R. Maddocks, Marcos Madruga-Garrido, Karen Y. Niederhoffer, Francesca Novara, Angela Peron, Elizabeth Poole-Di Salvo, Rachel Salazar, Steven A. Skinner, Gabriela Soares, Sylvie Goldman, Wendy K. Chung

  3. Langbehn, Kathleen E.

    1. Open Access
      DMPK mRNA Expression in Human Brain Tissue Throughout the Lifespan
      Kathleen E. Langbehn, Zoe Carlson-Stadler, Ellen van der Plas, Marco M. Hefti, Jeffrey D. Dawson, David J. Moser, Peggy C. Nopoulos

  4. Le Ber, Isabelle

    1. Open Access
      Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease
      Maria del Mar Amador, Marcela Gargiulo, Christilla Boucher, Ariane Herson, Stéphanie Staraci, François Salachas, Fabienne Clot, Cécile Cazeneuve, Isabelle Le Ber, Alexandra Durr

  5. Lehman, Ivan

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  6. Lek, Monkol

    1. Open Access
      WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
      Leigh B. Waddell, Samantha J. Bryen, Beryl B. Cummings, Adam Bournazos, Frances J. Evesson, Himanshu Joshi, Jamie L. Marshall, Taru Tukiainen, Elise Valkanas, Ben Weisburd, Simon Sadedin, Mark R. Davis, Fathimath Faiz, Rebecca Gooding, Sarah A. Sandaradura, Gina L. O'Grady, Michel C. Tchan, David R. Mowat, Emily C. Oates, Michelle A. Farrar, Hugo Sampaio, Alan Ma, Katherine Neas, Min-Xia Wang, Amanda Charlton, Charles Chan, Diane N. Kenwright, Nicole Graf, Susan Arbuckle, Nigel F. Clarke, Daniel G. MacArthur, Kristi J. Jones, Monkol Lek, Sandra T. Cooper

  7. Li, Tianyi

    1. Open Access
      V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations
      Martin Paucar, Richard Ågren, Tianyi Li, Simon Lissmats, Åsa Bergendal, Jan Weinberg, Daniel Nilsson, Irina Savichetva, Kristoffer Sahlholm, Johanna Nilsson, Per Svenningsson

  8. Lindgren, Arne G.

    1. Open Access
      MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor
      Andreea Ilinca, Elisabet Englund, Sofie Samuelsson, Katarina Truvé, Efthymia Kafantari, Nicolas Martinez-Majander, Jukka Putaala, Claes Håkansson, Arne G. Lindgren, Andreas Puschmann

  9. Lissmats, Simon

    1. Open Access
      V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations
      Martin Paucar, Richard Ågren, Tianyi Li, Simon Lissmats, Åsa Bergendal, Jan Weinberg, Daniel Nilsson, Irina Savichetva, Kristoffer Sahlholm, Johanna Nilsson, Per Svenningsson

  10. Litvinenko, Ivan

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  11. Lu, Zhiyuan

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  12. Lucca, Ugo

    1. Open Access
      Can Anti–β-amyloid Monoclonal Antibodies Work in Autosomal Dominant Alzheimer Disease?
      Bruno P. Imbimbo, Ugo Lucca, Mark Watling

  13. Lupo, Vincenzo

    1. Open Access
      NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism
      Silvia Jesús, Isabel Hinarejos, Fátima Carrillo, Dolores Martínez-Rubio, Daniel Macías-García, Ana Sánchez-Monteagudo, Astrid Adarmes, Vincenzo Lupo, Belén Pérez-Dueñas, Pablo Mir, Carmen Espinós

  14. Lusakowska, Anna

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

M

  1. Ma, Alan

    1. Open Access
      WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
      Leigh B. Waddell, Samantha J. Bryen, Beryl B. Cummings, Adam Bournazos, Frances J. Evesson, Himanshu Joshi, Jamie L. Marshall, Taru Tukiainen, Elise Valkanas, Ben Weisburd, Simon Sadedin, Mark R. Davis, Fathimath Faiz, Rebecca Gooding, Sarah A. Sandaradura, Gina L. O'Grady, Michel C. Tchan, David R. Mowat, Emily C. Oates, Michelle A. Farrar, Hugo Sampaio, Alan Ma, Katherine Neas, Min-Xia Wang, Amanda Charlton, Charles Chan, Diane N. Kenwright, Nicole Graf, Susan Arbuckle, Nigel F. Clarke, Daniel G. MacArthur, Kristi J. Jones, Monkol Lek, Sandra T. Cooper

  2. MacArthur, Daniel G.

    1. Open Access
      WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
      Leigh B. Waddell, Samantha J. Bryen, Beryl B. Cummings, Adam Bournazos, Frances J. Evesson, Himanshu Joshi, Jamie L. Marshall, Taru Tukiainen, Elise Valkanas, Ben Weisburd, Simon Sadedin, Mark R. Davis, Fathimath Faiz, Rebecca Gooding, Sarah A. Sandaradura, Gina L. O'Grady, Michel C. Tchan, David R. Mowat, Emily C. Oates, Michelle A. Farrar, Hugo Sampaio, Alan Ma, Katherine Neas, Min-Xia Wang, Amanda Charlton, Charles Chan, Diane N. Kenwright, Nicole Graf, Susan Arbuckle, Nigel F. Clarke, Daniel G. MacArthur, Kristi J. Jones, Monkol Lek, Sandra T. Cooper

  3. Macías-García, Daniel

    1. Open Access
      NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism
      Silvia Jesús, Isabel Hinarejos, Fátima Carrillo, Dolores Martínez-Rubio, Daniel Macías-García, Ana Sánchez-Monteagudo, Astrid Adarmes, Vincenzo Lupo, Belén Pérez-Dueñas, Pablo Mir, Carmen Espinós

  4. Maddocks, Alexis B.R.

    1. Open Access
      Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder
      Jennifer M. Bain, Olivia Thornburg, Cheryl Pan, Donnielle Rome-Martin, Lia Boyle, Xiao Fan, Orrin Devinsky, Richard Frye, Silke Hamp, Cynthia G. Keator, Nicole M. LaMarca, Alexis B.R. Maddocks, Marcos Madruga-Garrido, Karen Y. Niederhoffer, Francesca Novara, Angela Peron, Elizabeth Poole-Di Salvo, Rachel Salazar, Steven A. Skinner, Gabriela Soares, Sylvie Goldman, Wendy K. Chung

  5. Madruga-Garrido, Marcos

    1. Open Access
      Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder
      Jennifer M. Bain, Olivia Thornburg, Cheryl Pan, Donnielle Rome-Martin, Lia Boyle, Xiao Fan, Orrin Devinsky, Richard Frye, Silke Hamp, Cynthia G. Keator, Nicole M. LaMarca, Alexis B.R. Maddocks, Marcos Madruga-Garrido, Karen Y. Niederhoffer, Francesca Novara, Angela Peron, Elizabeth Poole-Di Salvo, Rachel Salazar, Steven A. Skinner, Gabriela Soares, Sylvie Goldman, Wendy K. Chung

  6. Mager, Monica

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  7. Mah-Som, Annelise Y.

    1. Open Access
      New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra
      Annelise Y. Mah-Som, Cristina Skrypnyk, Andrea Guerin, Raafat Hammad Seroor Jadah, Vinayak Nivrutti Vardhan, Robert C. McKinstry, Marwan S. Shinawi

  8. Makri-Mokrane, Samira

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  9. Manganelli, Fiore

    1. Open Access
      Bedside Head Impulse Test: A Useful Tool for Patients With Sensory Ataxia
      Stefano Tozza, Andrea Cortese, Aniello Iovino, Marcello Esposito, Natalia Dominik, Rosa Iodice, Fiore Manganelli

  10. Margutti, Alice

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  11. Marshall, Jamie L.

    1. Open Access
      WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
      Leigh B. Waddell, Samantha J. Bryen, Beryl B. Cummings, Adam Bournazos, Frances J. Evesson, Himanshu Joshi, Jamie L. Marshall, Taru Tukiainen, Elise Valkanas, Ben Weisburd, Simon Sadedin, Mark R. Davis, Fathimath Faiz, Rebecca Gooding, Sarah A. Sandaradura, Gina L. O'Grady, Michel C. Tchan, David R. Mowat, Emily C. Oates, Michelle A. Farrar, Hugo Sampaio, Alan Ma, Katherine Neas, Min-Xia Wang, Amanda Charlton, Charles Chan, Diane N. Kenwright, Nicole Graf, Susan Arbuckle, Nigel F. Clarke, Daniel G. MacArthur, Kristi J. Jones, Monkol Lek, Sandra T. Cooper

  12. Martinez-Majander, Nicolas

    1. Open Access
      MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor
      Andreea Ilinca, Elisabet Englund, Sofie Samuelsson, Katarina Truvé, Efthymia Kafantari, Nicolas Martinez-Majander, Jukka Putaala, Claes Håkansson, Arne G. Lindgren, Andreas Puschmann

  13. Martínez-Rubio, Dolores

    1. Open Access
      NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism
      Silvia Jesús, Isabel Hinarejos, Fátima Carrillo, Dolores Martínez-Rubio, Daniel Macías-García, Ana Sánchez-Monteagudo, Astrid Adarmes, Vincenzo Lupo, Belén Pérez-Dueñas, Pablo Mir, Carmen Espinós

  14. Matsumura, Akihiro

    1. Open Access
      Possible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral Sclerosis
      Shin Hisahara, Ayumi Nishiyama, Emiko Tsuda, Syuuichirou Suzuki, Akihiro Matsumura, Aki Ishikawa, Akihiro Sakurai, Ikuko N. Motoike, Masashi Aoki, Yoko Aoki, Shun Shimohama

  15. McKinstry, Robert C.

    1. Open Access
      New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra
      Annelise Y. Mah-Som, Cristina Skrypnyk, Andrea Guerin, Raafat Hammad Seroor Jadah, Vinayak Nivrutti Vardhan, Robert C. McKinstry, Marwan S. Shinawi

  16. Militaru, Mariela

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  17. Milone, Margherita

    1. Open Access
      Neurology: Genetics Year in Review
      Stefan Pulst, Massimo Pandolfo, Raymond Roos, Margherita Milone, Suman Jayadev

  18. Mir, Pablo

    1. Open Access
      NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism
      Silvia Jesús, Isabel Hinarejos, Fátima Carrillo, Dolores Martínez-Rubio, Daniel Macías-García, Ana Sánchez-Monteagudo, Astrid Adarmes, Vincenzo Lupo, Belén Pérez-Dueñas, Pablo Mir, Carmen Espinós

  19. Molnar, Maria Judith

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  20. Moser, David J.

    1. Open Access
      DMPK mRNA Expression in Human Brain Tissue Throughout the Lifespan
      Kathleen E. Langbehn, Zoe Carlson-Stadler, Ellen van der Plas, Marco M. Hefti, Jeffrey D. Dawson, David J. Moser, Peggy C. Nopoulos

  21. Motoike, Ikuko N.

    1. Open Access
      Possible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral Sclerosis
      Shin Hisahara, Ayumi Nishiyama, Emiko Tsuda, Syuuichirou Suzuki, Akihiro Matsumura, Aki Ishikawa, Akihiro Sakurai, Ikuko N. Motoike, Masashi Aoki, Yoko Aoki, Shun Shimohama

  22. Mowat, David R.

    1. Open Access
      WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
      Leigh B. Waddell, Samantha J. Bryen, Beryl B. Cummings, Adam Bournazos, Frances J. Evesson, Himanshu Joshi, Jamie L. Marshall, Taru Tukiainen, Elise Valkanas, Ben Weisburd, Simon Sadedin, Mark R. Davis, Fathimath Faiz, Rebecca Gooding, Sarah A. Sandaradura, Gina L. O'Grady, Michel C. Tchan, David R. Mowat, Emily C. Oates, Michelle A. Farrar, Hugo Sampaio, Alan Ma, Katherine Neas, Min-Xia Wang, Amanda Charlton, Charles Chan, Diane N. Kenwright, Nicole Graf, Susan Arbuckle, Nigel F. Clarke, Daniel G. MacArthur, Kristi J. Jones, Monkol Lek, Sandra T. Cooper

N

  1. Neas, Katherine

    1. Open Access
      WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
      Leigh B. Waddell, Samantha J. Bryen, Beryl B. Cummings, Adam Bournazos, Frances J. Evesson, Himanshu Joshi, Jamie L. Marshall, Taru Tukiainen, Elise Valkanas, Ben Weisburd, Simon Sadedin, Mark R. Davis, Fathimath Faiz, Rebecca Gooding, Sarah A. Sandaradura, Gina L. O'Grady, Michel C. Tchan, David R. Mowat, Emily C. Oates, Michelle A. Farrar, Hugo Sampaio, Alan Ma, Katherine Neas, Min-Xia Wang, Amanda Charlton, Charles Chan, Diane N. Kenwright, Nicole Graf, Susan Arbuckle, Nigel F. Clarke, Daniel G. MacArthur, Kristi J. Jones, Monkol Lek, Sandra T. Cooper

  2. Neri, Marcella

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  3. Niederhoffer, Karen Y.

    1. Open Access
      Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder
      Jennifer M. Bain, Olivia Thornburg, Cheryl Pan, Donnielle Rome-Martin, Lia Boyle, Xiao Fan, Orrin Devinsky, Richard Frye, Silke Hamp, Cynthia G. Keator, Nicole M. LaMarca, Alexis B.R. Maddocks, Marcos Madruga-Garrido, Karen Y. Niederhoffer, Francesca Novara, Angela Peron, Elizabeth Poole-Di Salvo, Rachel Salazar, Steven A. Skinner, Gabriela Soares, Sylvie Goldman, Wendy K. Chung

  4. Nilsson, Daniel

    1. Open Access
      V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations
      Martin Paucar, Richard Ågren, Tianyi Li, Simon Lissmats, Åsa Bergendal, Jan Weinberg, Daniel Nilsson, Irina Savichetva, Kristoffer Sahlholm, Johanna Nilsson, Per Svenningsson

  5. Nilsson, Johanna

    1. Open Access
      V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations
      Martin Paucar, Richard Ågren, Tianyi Li, Simon Lissmats, Åsa Bergendal, Jan Weinberg, Daniel Nilsson, Irina Savichetva, Kristoffer Sahlholm, Johanna Nilsson, Per Svenningsson

  6. Nishiyama, Ayumi

    1. Open Access
      Possible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral Sclerosis
      Shin Hisahara, Ayumi Nishiyama, Emiko Tsuda, Syuuichirou Suzuki, Akihiro Matsumura, Aki Ishikawa, Akihiro Sakurai, Ikuko N. Motoike, Masashi Aoki, Yoko Aoki, Shun Shimohama

  7. Nopoulos, Peggy C.

    1. Open Access
      DMPK mRNA Expression in Human Brain Tissue Throughout the Lifespan
      Kathleen E. Langbehn, Zoe Carlson-Stadler, Ellen van der Plas, Marco M. Hefti, Jeffrey D. Dawson, David J. Moser, Peggy C. Nopoulos

  8. Novara, Francesca

    1. Open Access
      Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder
      Jennifer M. Bain, Olivia Thornburg, Cheryl Pan, Donnielle Rome-Martin, Lia Boyle, Xiao Fan, Orrin Devinsky, Richard Frye, Silke Hamp, Cynthia G. Keator, Nicole M. LaMarca, Alexis B.R. Maddocks, Marcos Madruga-Garrido, Karen Y. Niederhoffer, Francesca Novara, Angela Peron, Elizabeth Poole-Di Salvo, Rachel Salazar, Steven A. Skinner, Gabriela Soares, Sylvie Goldman, Wendy K. Chung

O

  1. O'Grady, Gina L.

    1. Open Access
      WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
      Leigh B. Waddell, Samantha J. Bryen, Beryl B. Cummings, Adam Bournazos, Frances J. Evesson, Himanshu Joshi, Jamie L. Marshall, Taru Tukiainen, Elise Valkanas, Ben Weisburd, Simon Sadedin, Mark R. Davis, Fathimath Faiz, Rebecca Gooding, Sarah A. Sandaradura, Gina L. O'Grady, Michel C. Tchan, David R. Mowat, Emily C. Oates, Michelle A. Farrar, Hugo Sampaio, Alan Ma, Katherine Neas, Min-Xia Wang, Amanda Charlton, Charles Chan, Diane N. Kenwright, Nicole Graf, Susan Arbuckle, Nigel F. Clarke, Daniel G. MacArthur, Kristi J. Jones, Monkol Lek, Sandra T. Cooper

  2. Oates, Emily C.

    1. Open Access
      WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
      Leigh B. Waddell, Samantha J. Bryen, Beryl B. Cummings, Adam Bournazos, Frances J. Evesson, Himanshu Joshi, Jamie L. Marshall, Taru Tukiainen, Elise Valkanas, Ben Weisburd, Simon Sadedin, Mark R. Davis, Fathimath Faiz, Rebecca Gooding, Sarah A. Sandaradura, Gina L. O'Grady, Michel C. Tchan, David R. Mowat, Emily C. Oates, Michelle A. Farrar, Hugo Sampaio, Alan Ma, Katherine Neas, Min-Xia Wang, Amanda Charlton, Charles Chan, Diane N. Kenwright, Nicole Graf, Susan Arbuckle, Nigel F. Clarke, Daniel G. MacArthur, Kristi J. Jones, Monkol Lek, Sandra T. Cooper

P

  1. Pan, Cheryl

    1. Open Access
      Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder
      Jennifer M. Bain, Olivia Thornburg, Cheryl Pan, Donnielle Rome-Martin, Lia Boyle, Xiao Fan, Orrin Devinsky, Richard Frye, Silke Hamp, Cynthia G. Keator, Nicole M. LaMarca, Alexis B.R. Maddocks, Marcos Madruga-Garrido, Karen Y. Niederhoffer, Francesca Novara, Angela Peron, Elizabeth Poole-Di Salvo, Rachel Salazar, Steven A. Skinner, Gabriela Soares, Sylvie Goldman, Wendy K. Chung

  2. Pandolfo, Massimo

    1. Open Access
      Neurology: Genetics Year in Review
      Stefan Pulst, Massimo Pandolfo, Raymond Roos, Margherita Milone, Suman Jayadev

  3. Panzaru, Monica

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  4. Paucar, Martin

    1. Open Access
      V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations
      Martin Paucar, Richard Ågren, Tianyi Li, Simon Lissmats, Åsa Bergendal, Jan Weinberg, Daniel Nilsson, Irina Savichetva, Kristoffer Sahlholm, Johanna Nilsson, Per Svenningsson

  5. Pearson, Toni S.

    1. Open Access
      Paroxysmal Kinesigenic Dyskinesia in Twins With Chromosome 16p11.2 Duplication Syndrome
      Keisuke Ueda, Marwan Shinawi, Toni S. Pearson

  6. Pegoraro, Elena

    1. Open Access
      Molecular Diagnosis in 100% of DystrophinopathiesAre We There Yet?
      Elena Pegoraro

  7. Pence, Kayla

    1. Open Access
      EIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher Disease
      Daniel G. Calame, Meagan Hainlen, Danielle Takacs, Leah Ferrante, Kayla Pence, Lisa T. Emrick, Hsiao-Tuan Chao

  8. Pérez-Dueñas, Belén

    1. Open Access
      NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism
      Silvia Jesús, Isabel Hinarejos, Fátima Carrillo, Dolores Martínez-Rubio, Daniel Macías-García, Ana Sánchez-Monteagudo, Astrid Adarmes, Vincenzo Lupo, Belén Pérez-Dueñas, Pablo Mir, Carmen Espinós

  9. Peron, Angela

    1. Open Access
      Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder
      Jennifer M. Bain, Olivia Thornburg, Cheryl Pan, Donnielle Rome-Martin, Lia Boyle, Xiao Fan, Orrin Devinsky, Richard Frye, Silke Hamp, Cynthia G. Keator, Nicole M. LaMarca, Alexis B.R. Maddocks, Marcos Madruga-Garrido, Karen Y. Niederhoffer, Francesca Novara, Angela Peron, Elizabeth Poole-Di Salvo, Rachel Salazar, Steven A. Skinner, Gabriela Soares, Sylvie Goldman, Wendy K. Chung

  10. Pippucci, Tommaso

    1. Open Access
      Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?
      Renzo Guerrini, Mara Cavallin, Tommaso Pippucci, Anna Rosati, Francesca Bisulli, Paola Dimartino, Carmen Barba, Rita Garbelli, Anna Maria Buccoliero, Laura Tassi, Valerio Conti

  11. Poole-Di Salvo, Elizabeth

    1. Open Access
      Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder
      Jennifer M. Bain, Olivia Thornburg, Cheryl Pan, Donnielle Rome-Martin, Lia Boyle, Xiao Fan, Orrin Devinsky, Richard Frye, Silke Hamp, Cynthia G. Keator, Nicole M. LaMarca, Alexis B.R. Maddocks, Marcos Madruga-Garrido, Karen Y. Niederhoffer, Francesca Novara, Angela Peron, Elizabeth Poole-Di Salvo, Rachel Salazar, Steven A. Skinner, Gabriela Soares, Sylvie Goldman, Wendy K. Chung

  12. Potulska-Chromik, Anna

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  13. Pulst, Stefan

    1. Open Access
      Neurology: Genetics Year in Review
      Stefan Pulst, Massimo Pandolfo, Raymond Roos, Margherita Milone, Suman Jayadev

  14. Puschmann, Andreas

    1. Open Access
      MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor
      Andreea Ilinca, Elisabet Englund, Sofie Samuelsson, Katarina Truvé, Efthymia Kafantari, Nicolas Martinez-Majander, Jukka Putaala, Claes Håkansson, Arne G. Lindgren, Andreas Puschmann

  15. Putaala, Jukka

    1. Open Access
      MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor
      Andreea Ilinca, Elisabet Englund, Sofie Samuelsson, Katarina Truvé, Efthymia Kafantari, Nicolas Martinez-Majander, Jukka Putaala, Claes Håkansson, Arne G. Lindgren, Andreas Puschmann

R

  1. Roggenbuck, Jennifer

    1. Open Access
      C9orf72 and the Care of the Patient With ALS or FTDProgress and Recommendations After 10 Years
      Jennifer Roggenbuck

  2. Rome-Martin, Donnielle

    1. Open Access
      Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder
      Jennifer M. Bain, Olivia Thornburg, Cheryl Pan, Donnielle Rome-Martin, Lia Boyle, Xiao Fan, Orrin Devinsky, Richard Frye, Silke Hamp, Cynthia G. Keator, Nicole M. LaMarca, Alexis B.R. Maddocks, Marcos Madruga-Garrido, Karen Y. Niederhoffer, Francesca Novara, Angela Peron, Elizabeth Poole-Di Salvo, Rachel Salazar, Steven A. Skinner, Gabriela Soares, Sylvie Goldman, Wendy K. Chung

  3. Roos, Raymond

    1. Open Access
      Neurology: Genetics Year in Review
      Stefan Pulst, Massimo Pandolfo, Raymond Roos, Margherita Milone, Suman Jayadev

  4. Rosati, Anna

    1. Open Access
      Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?
      Renzo Guerrini, Mara Cavallin, Tommaso Pippucci, Anna Rosati, Francesca Bisulli, Paola Dimartino, Carmen Barba, Rita Garbelli, Anna Maria Buccoliero, Laura Tassi, Valerio Conti

  5. Rossi, Rachele

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  6. Russell, Bianca E.

    1. Open Access
      Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7
      Marvin Ziegler, Bianca E. Russell, Kathrin Eberhardt, Gregory Geisel, Angelica D'Amore, Mustafa Sahin, Harley I. Kornblum, Darius Ebrahimi-Fakhari

  7. Rusu, Cristina

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  8. Ryan, Éanna B.

    1. Open Access
      Does Somatic Mosaicism Account for Some Sporadic ALS?
      Éanna B. Ryan, Han-Xiang Deng

S

  1. Sadedin, Simon

    1. Open Access
      WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
      Leigh B. Waddell, Samantha J. Bryen, Beryl B. Cummings, Adam Bournazos, Frances J. Evesson, Himanshu Joshi, Jamie L. Marshall, Taru Tukiainen, Elise Valkanas, Ben Weisburd, Simon Sadedin, Mark R. Davis, Fathimath Faiz, Rebecca Gooding, Sarah A. Sandaradura, Gina L. O'Grady, Michel C. Tchan, David R. Mowat, Emily C. Oates, Michelle A. Farrar, Hugo Sampaio, Alan Ma, Katherine Neas, Min-Xia Wang, Amanda Charlton, Charles Chan, Diane N. Kenwright, Nicole Graf, Susan Arbuckle, Nigel F. Clarke, Daniel G. MacArthur, Kristi J. Jones, Monkol Lek, Sandra T. Cooper

  2. Sahin, Mustafa

    1. Open Access
      Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7
      Marvin Ziegler, Bianca E. Russell, Kathrin Eberhardt, Gregory Geisel, Angelica D'Amore, Mustafa Sahin, Harley I. Kornblum, Darius Ebrahimi-Fakhari

  3. Sahlholm, Kristoffer

    1. Open Access
      V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations
      Martin Paucar, Richard Ågren, Tianyi Li, Simon Lissmats, Åsa Bergendal, Jan Weinberg, Daniel Nilsson, Irina Savichetva, Kristoffer Sahlholm, Johanna Nilsson, Per Svenningsson

  4. Sakurai, Akihiro

    1. Open Access
      Possible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral Sclerosis
      Shin Hisahara, Ayumi Nishiyama, Emiko Tsuda, Syuuichirou Suzuki, Akihiro Matsumura, Aki Ishikawa, Akihiro Sakurai, Ikuko N. Motoike, Masashi Aoki, Yoko Aoki, Shun Shimohama

  5. Salachas, François

    1. Open Access
      Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease
      Maria del Mar Amador, Marcela Gargiulo, Christilla Boucher, Ariane Herson, Stéphanie Staraci, François Salachas, Fabienne Clot, Cécile Cazeneuve, Isabelle Le Ber, Alexandra Durr

  6. Salazar, Rachel

    1. Open Access
      Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder
      Jennifer M. Bain, Olivia Thornburg, Cheryl Pan, Donnielle Rome-Martin, Lia Boyle, Xiao Fan, Orrin Devinsky, Richard Frye, Silke Hamp, Cynthia G. Keator, Nicole M. LaMarca, Alexis B.R. Maddocks, Marcos Madruga-Garrido, Karen Y. Niederhoffer, Francesca Novara, Angela Peron, Elizabeth Poole-Di Salvo, Rachel Salazar, Steven A. Skinner, Gabriela Soares, Sylvie Goldman, Wendy K. Chung

  7. Sampaio, Hugo

    1. Open Access
      WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
      Leigh B. Waddell, Samantha J. Bryen, Beryl B. Cummings, Adam Bournazos, Frances J. Evesson, Himanshu Joshi, Jamie L. Marshall, Taru Tukiainen, Elise Valkanas, Ben Weisburd, Simon Sadedin, Mark R. Davis, Fathimath Faiz, Rebecca Gooding, Sarah A. Sandaradura, Gina L. O'Grady, Michel C. Tchan, David R. Mowat, Emily C. Oates, Michelle A. Farrar, Hugo Sampaio, Alan Ma, Katherine Neas, Min-Xia Wang, Amanda Charlton, Charles Chan, Diane N. Kenwright, Nicole Graf, Susan Arbuckle, Nigel F. Clarke, Daniel G. MacArthur, Kristi J. Jones, Monkol Lek, Sandra T. Cooper

  8. Samuelsson, Sofie

    1. Open Access
      MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor
      Andreea Ilinca, Elisabet Englund, Sofie Samuelsson, Katarina Truvé, Efthymia Kafantari, Nicolas Martinez-Majander, Jukka Putaala, Claes Håkansson, Arne G. Lindgren, Andreas Puschmann

  9. Sánchez-Monteagudo, Ana

    1. Open Access
      NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism
      Silvia Jesús, Isabel Hinarejos, Fátima Carrillo, Dolores Martínez-Rubio, Daniel Macías-García, Ana Sánchez-Monteagudo, Astrid Adarmes, Vincenzo Lupo, Belén Pérez-Dueñas, Pablo Mir, Carmen Espinós

  10. Sandaradura, Sarah A.

    1. Open Access
      WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
      Leigh B. Waddell, Samantha J. Bryen, Beryl B. Cummings, Adam Bournazos, Frances J. Evesson, Himanshu Joshi, Jamie L. Marshall, Taru Tukiainen, Elise Valkanas, Ben Weisburd, Simon Sadedin, Mark R. Davis, Fathimath Faiz, Rebecca Gooding, Sarah A. Sandaradura, Gina L. O'Grady, Michel C. Tchan, David R. Mowat, Emily C. Oates, Michelle A. Farrar, Hugo Sampaio, Alan Ma, Katherine Neas, Min-Xia Wang, Amanda Charlton, Charles Chan, Diane N. Kenwright, Nicole Graf, Susan Arbuckle, Nigel F. Clarke, Daniel G. MacArthur, Kristi J. Jones, Monkol Lek, Sandra T. Cooper

  11. Sandu, Magdalena

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  12. Savichetva, Irina

    1. Open Access
      V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations
      Martin Paucar, Richard Ågren, Tianyi Li, Simon Lissmats, Åsa Bergendal, Jan Weinberg, Daniel Nilsson, Irina Savichetva, Kristoffer Sahlholm, Johanna Nilsson, Per Svenningsson

  13. Selvatici, Rita

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  14. Seroor Jadah, Raafat Hammad

    1. Open Access
      New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra
      Annelise Y. Mah-Som, Cristina Skrypnyk, Andrea Guerin, Raafat Hammad Seroor Jadah, Vinayak Nivrutti Vardhan, Robert C. McKinstry, Marwan S. Shinawi

  15. Shatillo, Andriy

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  16. Shimohama, Shun

    1. Open Access
      Possible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral Sclerosis
      Shin Hisahara, Ayumi Nishiyama, Emiko Tsuda, Syuuichirou Suzuki, Akihiro Matsumura, Aki Ishikawa, Akihiro Sakurai, Ikuko N. Motoike, Masashi Aoki, Yoko Aoki, Shun Shimohama

  17. Shinawi, Marwan

    1. Open Access
      Paroxysmal Kinesigenic Dyskinesia in Twins With Chromosome 16p11.2 Duplication Syndrome
      Keisuke Ueda, Marwan Shinawi, Toni S. Pearson

  18. Shinawi, Marwan S.

    1. Open Access
      New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra
      Annelise Y. Mah-Som, Cristina Skrypnyk, Andrea Guerin, Raafat Hammad Seroor Jadah, Vinayak Nivrutti Vardhan, Robert C. McKinstry, Marwan S. Shinawi

  19. Sifi, Yamina

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  20. Skinner, Steven A.

    1. Open Access
      Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder
      Jennifer M. Bain, Olivia Thornburg, Cheryl Pan, Donnielle Rome-Martin, Lia Boyle, Xiao Fan, Orrin Devinsky, Richard Frye, Silke Hamp, Cynthia G. Keator, Nicole M. LaMarca, Alexis B.R. Maddocks, Marcos Madruga-Garrido, Karen Y. Niederhoffer, Francesca Novara, Angela Peron, Elizabeth Poole-Di Salvo, Rachel Salazar, Steven A. Skinner, Gabriela Soares, Sylvie Goldman, Wendy K. Chung

  21. Skrypnyk, Cristina

    1. Open Access
      New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra
      Annelise Y. Mah-Som, Cristina Skrypnyk, Andrea Guerin, Raafat Hammad Seroor Jadah, Vinayak Nivrutti Vardhan, Robert C. McKinstry, Marwan S. Shinawi

  22. Soares, Gabriela

    1. Open Access
      Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder
      Jennifer M. Bain, Olivia Thornburg, Cheryl Pan, Donnielle Rome-Martin, Lia Boyle, Xiao Fan, Orrin Devinsky, Richard Frye, Silke Hamp, Cynthia G. Keator, Nicole M. LaMarca, Alexis B.R. Maddocks, Marcos Madruga-Garrido, Karen Y. Niederhoffer, Francesca Novara, Angela Peron, Elizabeth Poole-Di Salvo, Rachel Salazar, Steven A. Skinner, Gabriela Soares, Sylvie Goldman, Wendy K. Chung

  23. Staraci, Stéphanie

    1. Open Access
      Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease
      Maria del Mar Amador, Marcela Gargiulo, Christilla Boucher, Ariane Herson, Stéphanie Staraci, François Salachas, Fabienne Clot, Cécile Cazeneuve, Isabelle Le Ber, Alexandra Durr

  24. Suzuki, Syuuichirou

    1. Open Access
      Possible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral Sclerosis
      Shin Hisahara, Ayumi Nishiyama, Emiko Tsuda, Syuuichirou Suzuki, Akihiro Matsumura, Aki Ishikawa, Akihiro Sakurai, Ikuko N. Motoike, Masashi Aoki, Yoko Aoki, Shun Shimohama

  25. Svenningsson, Per

    1. Open Access
      V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations
      Martin Paucar, Richard Ågren, Tianyi Li, Simon Lissmats, Åsa Bergendal, Jan Weinberg, Daniel Nilsson, Irina Savichetva, Kristoffer Sahlholm, Johanna Nilsson, Per Svenningsson

  26. Szabò, Lena

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

T

  1. Takacs, Danielle

    1. Open Access
      EIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher Disease
      Daniel G. Calame, Meagan Hainlen, Danielle Takacs, Leah Ferrante, Kayla Pence, Lisa T. Emrick, Hsiao-Tuan Chao

  2. Tassi, Laura

    1. Open Access
      Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?
      Renzo Guerrini, Mara Cavallin, Tommaso Pippucci, Anna Rosati, Francesca Bisulli, Paola Dimartino, Carmen Barba, Rita Garbelli, Anna Maria Buccoliero, Laura Tassi, Valerio Conti

  3. Tchan, Michel C.

    1. Open Access
      WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
      Leigh B. Waddell, Samantha J. Bryen, Beryl B. Cummings, Adam Bournazos, Frances J. Evesson, Himanshu Joshi, Jamie L. Marshall, Taru Tukiainen, Elise Valkanas, Ben Weisburd, Simon Sadedin, Mark R. Davis, Fathimath Faiz, Rebecca Gooding, Sarah A. Sandaradura, Gina L. O'Grady, Michel C. Tchan, David R. Mowat, Emily C. Oates, Michelle A. Farrar, Hugo Sampaio, Alan Ma, Katherine Neas, Min-Xia Wang, Amanda Charlton, Charles Chan, Diane N. Kenwright, Nicole Graf, Susan Arbuckle, Nigel F. Clarke, Daniel G. MacArthur, Kristi J. Jones, Monkol Lek, Sandra T. Cooper

  4. Thornburg, Olivia

    1. Open Access
      Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder
      Jennifer M. Bain, Olivia Thornburg, Cheryl Pan, Donnielle Rome-Martin, Lia Boyle, Xiao Fan, Orrin Devinsky, Richard Frye, Silke Hamp, Cynthia G. Keator, Nicole M. LaMarca, Alexis B.R. Maddocks, Marcos Madruga-Garrido, Karen Y. Niederhoffer, Francesca Novara, Angela Peron, Elizabeth Poole-Di Salvo, Rachel Salazar, Steven A. Skinner, Gabriela Soares, Sylvie Goldman, Wendy K. Chung

  5. Tozza, Stefano

    1. Open Access
      Bedside Head Impulse Test: A Useful Tool for Patients With Sensory Ataxia
      Stefano Tozza, Andrea Cortese, Aniello Iovino, Marcello Esposito, Natalia Dominik, Rosa Iodice, Fiore Manganelli

  6. Trabanelli, Cecilia

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  7. Truini, Andrea

    1. Open Access
      Trigeminal Neuralgia TRPM8 MutationEnhanced Activation, Basal [Ca2+]i and Menthol Response
      Roberta Gualdani, Jun-Hui Yuan, Philip R. Effraim, Giulia Di Stefano, Andrea Truini, Giorgio Cruccu, Sulayman D. Dib-Hajj, Philippe Gailly, Stephen G. Waxman

  8. Truvé, Katarina

    1. Open Access
      MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor
      Andreea Ilinca, Elisabet Englund, Sofie Samuelsson, Katarina Truvé, Efthymia Kafantari, Nicolas Martinez-Majander, Jukka Putaala, Claes Håkansson, Arne G. Lindgren, Andreas Puschmann

  9. Tsuda, Emiko

    1. Open Access
      Possible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral Sclerosis
      Shin Hisahara, Ayumi Nishiyama, Emiko Tsuda, Syuuichirou Suzuki, Akihiro Matsumura, Aki Ishikawa, Akihiro Sakurai, Ikuko N. Motoike, Masashi Aoki, Yoko Aoki, Shun Shimohama

  10. Tukiainen, Taru

    1. Open Access
      WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
      Leigh B. Waddell, Samantha J. Bryen, Beryl B. Cummings, Adam Bournazos, Frances J. Evesson, Himanshu Joshi, Jamie L. Marshall, Taru Tukiainen, Elise Valkanas, Ben Weisburd, Simon Sadedin, Mark R. Davis, Fathimath Faiz, Rebecca Gooding, Sarah A. Sandaradura, Gina L. O'Grady, Michel C. Tchan, David R. Mowat, Emily C. Oates, Michelle A. Farrar, Hugo Sampaio, Alan Ma, Katherine Neas, Min-Xia Wang, Amanda Charlton, Charles Chan, Diane N. Kenwright, Nicole Graf, Susan Arbuckle, Nigel F. Clarke, Daniel G. MacArthur, Kristi J. Jones, Monkol Lek, Sandra T. Cooper

U

  1. Ueda, Keisuke

    1. Open Access
      Paroxysmal Kinesigenic Dyskinesia in Twins With Chromosome 16p11.2 Duplication Syndrome
      Keisuke Ueda, Marwan Shinawi, Toni S. Pearson

V

  1. Valkanas, Elise

    1. Open Access
      WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
      Leigh B. Waddell, Samantha J. Bryen, Beryl B. Cummings, Adam Bournazos, Frances J. Evesson, Himanshu Joshi, Jamie L. Marshall, Taru Tukiainen, Elise Valkanas, Ben Weisburd, Simon Sadedin, Mark R. Davis, Fathimath Faiz, Rebecca Gooding, Sarah A. Sandaradura, Gina L. O'Grady, Michel C. Tchan, David R. Mowat, Emily C. Oates, Michelle A. Farrar, Hugo Sampaio, Alan Ma, Katherine Neas, Min-Xia Wang, Amanda Charlton, Charles Chan, Diane N. Kenwright, Nicole Graf, Susan Arbuckle, Nigel F. Clarke, Daniel G. MacArthur, Kristi J. Jones, Monkol Lek, Sandra T. Cooper

  2. van der Plas, Ellen

    1. Open Access
      DMPK mRNA Expression in Human Brain Tissue Throughout the Lifespan
      Kathleen E. Langbehn, Zoe Carlson-Stadler, Ellen van der Plas, Marco M. Hefti, Jeffrey D. Dawson, David J. Moser, Peggy C. Nopoulos

  3. Vardhan, Vinayak Nivrutti

    1. Open Access
      New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra
      Annelise Y. Mah-Som, Cristina Skrypnyk, Andrea Guerin, Raafat Hammad Seroor Jadah, Vinayak Nivrutti Vardhan, Robert C. McKinstry, Marwan S. Shinawi

  4. Vasile, Daniela

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  5. Vildan, Yurtsever

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  6. Vintan, Mihaela

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  7. Visa, Gabriela

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

  8. Vlodavets, Dmitry

    1. Open Access
      Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
      Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini

W

  1. Waddell, Leigh B.

    1. Open Access
      WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
      Leigh B. Waddell, Samantha J. Bryen, Beryl B. Cummings, Adam Bournazos, Frances J. Evesson, Himanshu Joshi, Jamie L. Marshall, Taru Tukiainen, Elise Valkanas, Ben Weisburd, Simon Sadedin, Mark R. Davis, Fathimath Faiz, Rebecca Gooding, Sarah A. Sandaradura, Gina L. O'Grady, Michel C. Tchan, David R. Mowat, Emily C. Oates, Michelle A. Farrar, Hugo Sampaio, Alan Ma, Katherine Neas, Min-Xia Wang, Amanda Charlton, Charles Chan, Diane N. Kenwright, Nicole Graf, Susan Arbuckle, Nigel F. Clarke, Daniel G. MacArthur, Kristi J. Jones, Monkol Lek, Sandra T. Cooper

  2. Wang, Min-Xia

    1. Open Access
      WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
      Leigh B. Waddell, Samantha J. Bryen, Beryl B. Cummings, Adam Bournazos, Frances J. Evesson, Himanshu Joshi, Jamie L. Marshall, Taru Tukiainen, Elise Valkanas, Ben Weisburd, Simon Sadedin, Mark R. Davis, Fathimath Faiz, Rebecca Gooding, Sarah A. Sandaradura, Gina L. O'Grady, Michel C. Tchan, David R. Mowat, Emily C. Oates, Michelle A. Farrar, Hugo Sampaio, Alan Ma, Katherine Neas, Min-Xia Wang, Amanda Charlton, Charles Chan, Diane N. Kenwright, Nicole Graf, Susan Arbuckle, Nigel F. Clarke, Daniel G. MacArthur, Kristi J. Jones, Monkol Lek, Sandra T. Cooper

  3. Watling, Mark

    1. Open Access
      Can Anti–β-amyloid Monoclonal Antibodies Work in Autosomal Dominant Alzheimer Disease?
      Bruno P. Imbimbo, Ugo Lucca, Mark Watling

  4. Waxman, Stephen G.

    1. Open Access
      Trigeminal Neuralgia TRPM8 MutationEnhanced Activation, Basal [Ca2+]i and Menthol Response
      Roberta Gualdani, Jun-Hui Yuan, Philip R. Effraim, Giulia Di Stefano, Andrea Truini, Giorgio Cruccu, Sulayman D. Dib-Hajj, Philippe Gailly, Stephen G. Waxman

  5. Weinberg, Jan

    1. Open Access
      V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations
      Martin Paucar, Richard Ågren, Tianyi Li, Simon Lissmats, Åsa Bergendal, Jan Weinberg, Daniel Nilsson, Irina Savichetva, Kristoffer Sahlholm, Johanna Nilsson, Per Svenningsson

  6. Weisburd, Ben

    1. Open Access
      WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
      Leigh B. Waddell, Samantha J. Bryen, Beryl B. Cummings, Adam Bournazos, Frances J. Evesson, Himanshu Joshi, Jamie L. Marshall, Taru Tukiainen, Elise Valkanas, Ben Weisburd, Simon Sadedin, Mark R. Davis, Fathimath Faiz, Rebecca Gooding, Sarah A. Sandaradura, Gina L. O'Grady, Michel C. Tchan, David R. Mowat, Emily C. Oates, Michelle A. Farrar, Hugo Sampaio, Alan Ma, Katherine Neas, Min-Xia Wang, Amanda Charlton, Charles Chan, Diane N. Kenwright, Nicole Graf, Susan Arbuckle, Nigel F. Clarke, Daniel G. MacArthur, Kristi J. Jones, Monkol Lek, Sandra T. Cooper

Y

  1. Yuan, Jun-Hui

    1. Open Access
      Trigeminal Neuralgia TRPM8 MutationEnhanced Activation, Basal [Ca2+]i and Menthol Response
      Roberta Gualdani, Jun-Hui Yuan, Philip R. Effraim, Giulia Di Stefano, Andrea Truini, Giorgio Cruccu, Sulayman D. Dib-Hajj, Philippe Gailly, Stephen G. Waxman

Z

  1. Ziegler, Marvin

    1. Open Access
      Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7
      Marvin Ziegler, Bianca E. Russell, Kathrin Eberhardt, Gregory Geisel, Angelica D'Amore, Mustafa Sahin, Harley I. Kornblum, Darius Ebrahimi-Fakhari
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Neurology Genetics: 7 (1)
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