A
Ågren, Richard
- Open AccessV374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia ExacerbationsMartin Paucar, Richard Ågren, Tianyi Li, Simon Lissmats, Åsa Bergendal, Jan Weinberg, Daniel Nilsson, Irina Savichetva, Kristoffer Sahlholm, Johanna Nilsson, Per Svenningsson
Amador, Maria del Mar
- Open AccessWho and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington DiseaseMaria del Mar Amador, Marcela Gargiulo, Christilla Boucher, Ariane Herson, Stéphanie Staraci, François Salachas, Fabienne Clot, Cécile Cazeneuve, Isabelle Le Ber, Alexandra Durr
Angelova, Lyudmilla
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Aoki, Masashi
- Open AccessPossible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral SclerosisShin Hisahara, Ayumi Nishiyama, Emiko Tsuda, Syuuichirou Suzuki, Akihiro Matsumura, Aki Ishikawa, Akihiro Sakurai, Ikuko N. Motoike, Masashi Aoki, Yoko Aoki, Shun Shimohama
Aoki, Yoko
- Open AccessPossible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral SclerosisShin Hisahara, Ayumi Nishiyama, Emiko Tsuda, Syuuichirou Suzuki, Akihiro Matsumura, Aki Ishikawa, Akihiro Sakurai, Ikuko N. Motoike, Masashi Aoki, Yoko Aoki, Shun Shimohama
B
Barba, Carmen
- Open AccessIs 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
Bensemmane, Selma Dounia
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Bergendal, Åsa
- Open AccessV374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia ExacerbationsMartin Paucar, Richard Ågren, Tianyi Li, Simon Lissmats, Åsa Bergendal, Jan Weinberg, Daniel Nilsson, Irina Savichetva, Kristoffer Sahlholm, Johanna Nilsson, Per Svenningsson
Bisulli, Francesca
- Open AccessIs 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
Bojinova, Veneta
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Boucher, Christilla
- Open AccessWho and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington DiseaseMaria del Mar Amador, Marcela Gargiulo, Christilla Boucher, Ariane Herson, Stéphanie Staraci, François Salachas, Fabienne Clot, Cécile Cazeneuve, Isabelle Le Ber, Alexandra Durr
Buccoliero, Anna Maria
- Open AccessIs 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
Burloiu, Carmen
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Burnyte, Birute
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Butoianu, Niculina
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Calame, Daniel G.
- Open AccessEIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher DiseaseDaniel G. Calame, Meagan Hainlen, Danielle Takacs, Leah Ferrante, Kayla Pence, Lisa T. Emrick, Hsiao-Tuan Chao
Carlson-Stadler, Zoe
- Open AccessDMPK mRNA Expression in Human Brain Tissue Throughout the LifespanKathleen E. Langbehn, Zoe Carlson-Stadler, Ellen van der Plas, Marco M. Hefti, Jeffrey D. Dawson, David J. Moser, Peggy C. Nopoulos
Cavallin, Mara
- Open AccessIs 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
Cazeneuve, Cécile
- Open AccessWho and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington DiseaseMaria del Mar Amador, Marcela Gargiulo, Christilla Boucher, Ariane Herson, Stéphanie Staraci, François Salachas, Fabienne Clot, Cécile Cazeneuve, Isabelle Le Ber, Alexandra Durr
Chao, Hsiao-Tuan
- Open AccessEIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher DiseaseDaniel G. Calame, Meagan Hainlen, Danielle Takacs, Leah Ferrante, Kayla Pence, Lisa T. Emrick, Hsiao-Tuan Chao
Clot, Fabienne
- Open AccessWho and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington DiseaseMaria del Mar Amador, Marcela Gargiulo, Christilla Boucher, Ariane Herson, Stéphanie Staraci, François Salachas, Fabienne Clot, Cécile Cazeneuve, Isabelle Le Ber, Alexandra Durr
Conti, Valerio
- Open AccessIs 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
Cortese, Andrea
- Open AccessBedside Head Impulse Test: A Useful Tool for Patients With Sensory AtaxiaStefano Tozza, Andrea Cortese, Aniello Iovino, Marcello Esposito, Natalia Dominik, Rosa Iodice, Fiore Manganelli
Cruccu, Giorgio
- Open AccessTrigeminal Neuralgia TRPM8 MutationEnhanced Activation, Basal [Ca2+]i and Menthol ResponseRoberta Gualdani, Jun-Hui Yuan, Philip R. Effraim, Giulia Di Stefano, Andrea Truini, Giorgio Cruccu, Sulayman D. Dib-Hajj, Philippe Gailly, Stephen G. Waxman
D
D'Amore, Angelica
- Open AccessBlended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7Marvin Ziegler, Bianca E. Russell, Kathrin Eberhardt, Gregory Geisel, Angelica D'Amore, Mustafa Sahin, Harley I. Kornblum, Darius Ebrahimi-Fakhari
Dawson, Jeffrey D.
- Open AccessDMPK mRNA Expression in Human Brain Tissue Throughout the LifespanKathleen E. Langbehn, Zoe Carlson-Stadler, Ellen van der Plas, Marco M. Hefti, Jeffrey D. Dawson, David J. Moser, Peggy C. Nopoulos
Delin, Sanja
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Dendane, Oussama
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Deng, Han-Xiang
Dib-Hajj, Sulayman D.
- Open AccessTrigeminal Neuralgia TRPM8 MutationEnhanced Activation, Basal [Ca2+]i and Menthol ResponseRoberta Gualdani, Jun-Hui Yuan, Philip R. Effraim, Giulia Di Stefano, Andrea Truini, Giorgio Cruccu, Sulayman D. Dib-Hajj, Philippe Gailly, Stephen G. Waxman
Dimartino, Paola
- Open AccessIs 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
Di Stefano, Giulia
- Open AccessTrigeminal Neuralgia TRPM8 MutationEnhanced Activation, Basal [Ca2+]i and Menthol ResponseRoberta Gualdani, Jun-Hui Yuan, Philip R. Effraim, Giulia Di Stefano, Andrea Truini, Giorgio Cruccu, Sulayman D. Dib-Hajj, Philippe Gailly, Stephen G. Waxman
Dominik, Natalia
- Open AccessBedside Head Impulse Test: A Useful Tool for Patients With Sensory AtaxiaStefano Tozza, Andrea Cortese, Aniello Iovino, Marcello Esposito, Natalia Dominik, Rosa Iodice, Fiore Manganelli
Durr, Alexandra
- Open AccessWho and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington DiseaseMaria del Mar Amador, Marcela Gargiulo, Christilla Boucher, Ariane Herson, Stéphanie Staraci, François Salachas, Fabienne Clot, Cécile Cazeneuve, Isabelle Le Ber, Alexandra Durr
E
Eberhardt, Kathrin
- Open AccessBlended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7Marvin Ziegler, Bianca E. Russell, Kathrin Eberhardt, Gregory Geisel, Angelica D'Amore, Mustafa Sahin, Harley I. Kornblum, Darius Ebrahimi-Fakhari
Ebrahimi-Fakhari, Darius
- Open AccessBlended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7Marvin Ziegler, Bianca E. Russell, Kathrin Eberhardt, Gregory Geisel, Angelica D'Amore, Mustafa Sahin, Harley I. Kornblum, Darius Ebrahimi-Fakhari
Effraim, Philip R.
- Open AccessTrigeminal Neuralgia TRPM8 MutationEnhanced Activation, Basal [Ca2+]i and Menthol ResponseRoberta Gualdani, Jun-Hui Yuan, Philip R. Effraim, Giulia Di Stefano, Andrea Truini, Giorgio Cruccu, Sulayman D. Dib-Hajj, Philippe Gailly, Stephen G. Waxman
Emandi, Adela Chirita
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Emrick, Lisa T.
- Open AccessEIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher DiseaseDaniel G. Calame, Meagan Hainlen, Danielle Takacs, Leah Ferrante, Kayla Pence, Lisa T. Emrick, Hsiao-Tuan Chao
Epure, Diana
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Esposito, Marcello
- Open AccessBedside Head Impulse Test: A Useful Tool for Patients With Sensory AtaxiaStefano Tozza, Andrea Cortese, Aniello Iovino, Marcello Esposito, Natalia Dominik, Rosa Iodice, Fiore Manganelli
F
Fang, Mingyan
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Fekete, Balint
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Ferlini, Alessandra
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Ferrante, Leah
- Open AccessEIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher DiseaseDaniel G. Calame, Meagan Hainlen, Danielle Takacs, Leah Ferrante, Kayla Pence, Lisa T. Emrick, Hsiao-Tuan Chao
Fortunato, Fernanda
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Fureš, Jadranka Sekelj
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
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Gailly, Philippe
- Open AccessTrigeminal Neuralgia TRPM8 MutationEnhanced Activation, Basal [Ca2+]i and Menthol ResponseRoberta Gualdani, Jun-Hui Yuan, Philip R. Effraim, Giulia Di Stefano, Andrea Truini, Giorgio Cruccu, Sulayman D. Dib-Hajj, Philippe Gailly, Stephen G. Waxman
Garbelli, Rita
- Open AccessIs 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
Gargiulo, Marcela
- Open AccessWho and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington DiseaseMaria del Mar Amador, Marcela Gargiulo, Christilla Boucher, Ariane Herson, Stéphanie Staraci, François Salachas, Fabienne Clot, Cécile Cazeneuve, Isabelle Le Ber, Alexandra Durr
Geisel, Gregory
- Open AccessBlended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7Marvin Ziegler, Bianca E. Russell, Kathrin Eberhardt, Gregory Geisel, Angelica D'Amore, Mustafa Sahin, Harley I. Kornblum, Darius Ebrahimi-Fakhari
Gualandi, Francesca
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Gualdani, Roberta
- Open AccessTrigeminal Neuralgia TRPM8 MutationEnhanced Activation, Basal [Ca2+]i and Menthol ResponseRoberta Gualdani, Jun-Hui Yuan, Philip R. Effraim, Giulia Di Stefano, Andrea Truini, Giorgio Cruccu, Sulayman D. Dib-Hajj, Philippe Gailly, Stephen G. Waxman
Guergueltcheva, Velina
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Guerin, Andrea
- Open AccessNew Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic SpectraAnnelise Y. Mah-Som, Cristina Skrypnyk, Andrea Guerin, Raafat Hammad Seroor Jadah, Vinayak Nivrutti Vardhan, Robert C. McKinstry, Marwan S. Shinawi
Guerrini, Renzo
- Open AccessIs 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
Hainlen, Meagan
- Open AccessEIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher DiseaseDaniel G. Calame, Meagan Hainlen, Danielle Takacs, Leah Ferrante, Kayla Pence, Lisa T. Emrick, Hsiao-Tuan Chao
Hefti, Marco M.
- Open AccessDMPK mRNA Expression in Human Brain Tissue Throughout the LifespanKathleen E. Langbehn, Zoe Carlson-Stadler, Ellen van der Plas, Marco M. Hefti, Jeffrey D. Dawson, David J. Moser, Peggy C. Nopoulos
Herczegfalvi, Agnes
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Herson, Ariane
- Open AccessWho and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington DiseaseMaria del Mar Amador, Marcela Gargiulo, Christilla Boucher, Ariane Herson, Stéphanie Staraci, François Salachas, Fabienne Clot, Cécile Cazeneuve, Isabelle Le Ber, Alexandra Durr
Hisahara, Shin
- Open AccessPossible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral SclerosisShin Hisahara, Ayumi Nishiyama, Emiko Tsuda, Syuuichirou Suzuki, Akihiro Matsumura, Aki Ishikawa, Akihiro Sakurai, Ikuko N. Motoike, Masashi Aoki, Yoko Aoki, Shun Shimohama
I
Imbimbo, Bruno P.
- Open AccessCan Anti–β-amyloid Monoclonal Antibodies Work in Autosomal Dominant Alzheimer Disease?Bruno P. Imbimbo, Ugo Lucca, Mark Watling
Iodice, Rosa
- Open AccessBedside Head Impulse Test: A Useful Tool for Patients With Sensory AtaxiaStefano Tozza, Andrea Cortese, Aniello Iovino, Marcello Esposito, Natalia Dominik, Rosa Iodice, Fiore Manganelli
Iovino, Aniello
- Open AccessBedside Head Impulse Test: A Useful Tool for Patients With Sensory AtaxiaStefano Tozza, Andrea Cortese, Aniello Iovino, Marcello Esposito, Natalia Dominik, Rosa Iodice, Fiore Manganelli
Ishikawa, Aki
- Open AccessPossible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral SclerosisShin Hisahara, Ayumi Nishiyama, Emiko Tsuda, Syuuichirou Suzuki, Akihiro Matsumura, Aki Ishikawa, Akihiro Sakurai, Ikuko N. Motoike, Masashi Aoki, Yoko Aoki, Shun Shimohama
Iuhas, Oana Alexandra
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Ivanov, Ivan
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
K
Khelladi, Djawed Bouchenak
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Kornblum, Harley I.
- Open AccessBlended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7Marvin Ziegler, Bianca E. Russell, Kathrin Eberhardt, Gregory Geisel, Angelica D'Amore, Mustafa Sahin, Harley I. Kornblum, Darius Ebrahimi-Fakhari
Kostera-Pruszczyk, Anna
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Kyriakides, Theodore
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Lacramioara, Butnariu
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Langbehn, Kathleen E.
- Open AccessDMPK mRNA Expression in Human Brain Tissue Throughout the LifespanKathleen E. Langbehn, Zoe Carlson-Stadler, Ellen van der Plas, Marco M. Hefti, Jeffrey D. Dawson, David J. Moser, Peggy C. Nopoulos
Le Ber, Isabelle
- Open AccessWho and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington DiseaseMaria del Mar Amador, Marcela Gargiulo, Christilla Boucher, Ariane Herson, Stéphanie Staraci, François Salachas, Fabienne Clot, Cécile Cazeneuve, Isabelle Le Ber, Alexandra Durr
Lehman, Ivan
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Li, Tianyi
- Open AccessV374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia ExacerbationsMartin Paucar, Richard Ågren, Tianyi Li, Simon Lissmats, Åsa Bergendal, Jan Weinberg, Daniel Nilsson, Irina Savichetva, Kristoffer Sahlholm, Johanna Nilsson, Per Svenningsson
Lissmats, Simon
- Open AccessV374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia ExacerbationsMartin Paucar, Richard Ågren, Tianyi Li, Simon Lissmats, Åsa Bergendal, Jan Weinberg, Daniel Nilsson, Irina Savichetva, Kristoffer Sahlholm, Johanna Nilsson, Per Svenningsson
Litvinenko, Ivan
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Lu, Zhiyuan
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Lucca, Ugo
- Open AccessCan Anti–β-amyloid Monoclonal Antibodies Work in Autosomal Dominant Alzheimer Disease?Bruno P. Imbimbo, Ugo Lucca, Mark Watling
Lusakowska, Anna
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Mager, Monica
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Mah-Som, Annelise Y.
- Open AccessNew Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic SpectraAnnelise Y. Mah-Som, Cristina Skrypnyk, Andrea Guerin, Raafat Hammad Seroor Jadah, Vinayak Nivrutti Vardhan, Robert C. McKinstry, Marwan S. Shinawi
Makri-Mokrane, Samira
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Manganelli, Fiore
- Open AccessBedside Head Impulse Test: A Useful Tool for Patients With Sensory AtaxiaStefano Tozza, Andrea Cortese, Aniello Iovino, Marcello Esposito, Natalia Dominik, Rosa Iodice, Fiore Manganelli
Margutti, Alice
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Matsumura, Akihiro
- Open AccessPossible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral SclerosisShin Hisahara, Ayumi Nishiyama, Emiko Tsuda, Syuuichirou Suzuki, Akihiro Matsumura, Aki Ishikawa, Akihiro Sakurai, Ikuko N. Motoike, Masashi Aoki, Yoko Aoki, Shun Shimohama
McKinstry, Robert C.
- Open AccessNew Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic SpectraAnnelise Y. Mah-Som, Cristina Skrypnyk, Andrea Guerin, Raafat Hammad Seroor Jadah, Vinayak Nivrutti Vardhan, Robert C. McKinstry, Marwan S. Shinawi
Militaru, Mariela
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Molnar, Maria Judith
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Moser, David J.
- Open AccessDMPK mRNA Expression in Human Brain Tissue Throughout the LifespanKathleen E. Langbehn, Zoe Carlson-Stadler, Ellen van der Plas, Marco M. Hefti, Jeffrey D. Dawson, David J. Moser, Peggy C. Nopoulos
Motoike, Ikuko N.
- Open AccessPossible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral SclerosisShin Hisahara, Ayumi Nishiyama, Emiko Tsuda, Syuuichirou Suzuki, Akihiro Matsumura, Aki Ishikawa, Akihiro Sakurai, Ikuko N. Motoike, Masashi Aoki, Yoko Aoki, Shun Shimohama
N
Neri, Marcella
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Nilsson, Daniel
- Open AccessV374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia ExacerbationsMartin Paucar, Richard Ågren, Tianyi Li, Simon Lissmats, Åsa Bergendal, Jan Weinberg, Daniel Nilsson, Irina Savichetva, Kristoffer Sahlholm, Johanna Nilsson, Per Svenningsson
Nilsson, Johanna
- Open AccessV374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia ExacerbationsMartin Paucar, Richard Ågren, Tianyi Li, Simon Lissmats, Åsa Bergendal, Jan Weinberg, Daniel Nilsson, Irina Savichetva, Kristoffer Sahlholm, Johanna Nilsson, Per Svenningsson
Nishiyama, Ayumi
- Open AccessPossible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral SclerosisShin Hisahara, Ayumi Nishiyama, Emiko Tsuda, Syuuichirou Suzuki, Akihiro Matsumura, Aki Ishikawa, Akihiro Sakurai, Ikuko N. Motoike, Masashi Aoki, Yoko Aoki, Shun Shimohama
Nopoulos, Peggy C.
- Open AccessDMPK mRNA Expression in Human Brain Tissue Throughout the LifespanKathleen E. Langbehn, Zoe Carlson-Stadler, Ellen van der Plas, Marco M. Hefti, Jeffrey D. Dawson, David J. Moser, Peggy C. Nopoulos
P
Panzaru, Monica
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Paucar, Martin
- Open AccessV374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia ExacerbationsMartin Paucar, Richard Ågren, Tianyi Li, Simon Lissmats, Åsa Bergendal, Jan Weinberg, Daniel Nilsson, Irina Savichetva, Kristoffer Sahlholm, Johanna Nilsson, Per Svenningsson
Pearson, Toni S.
- Open AccessParoxysmal Kinesigenic Dyskinesia in Twins With Chromosome 16p11.2 Duplication SyndromeKeisuke Ueda, Marwan Shinawi, Toni S. Pearson
Pence, Kayla
- Open AccessEIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher DiseaseDaniel G. Calame, Meagan Hainlen, Danielle Takacs, Leah Ferrante, Kayla Pence, Lisa T. Emrick, Hsiao-Tuan Chao
Pippucci, Tommaso
- Open AccessIs 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
Potulska-Chromik, Anna
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
R
Roggenbuck, Jennifer
- Open AccessC9orf72 and the Care of the Patient With ALS or FTDProgress and Recommendations After 10 YearsJennifer Roggenbuck
Rosati, Anna
- Open AccessIs 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
Rossi, Rachele
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Russell, Bianca E.
- Open AccessBlended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7Marvin Ziegler, Bianca E. Russell, Kathrin Eberhardt, Gregory Geisel, Angelica D'Amore, Mustafa Sahin, Harley I. Kornblum, Darius Ebrahimi-Fakhari
Rusu, Cristina
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Ryan, Éanna B.
S
Sahin, Mustafa
- Open AccessBlended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7Marvin Ziegler, Bianca E. Russell, Kathrin Eberhardt, Gregory Geisel, Angelica D'Amore, Mustafa Sahin, Harley I. Kornblum, Darius Ebrahimi-Fakhari
Sahlholm, Kristoffer
- Open AccessV374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia ExacerbationsMartin Paucar, Richard Ågren, Tianyi Li, Simon Lissmats, Åsa Bergendal, Jan Weinberg, Daniel Nilsson, Irina Savichetva, Kristoffer Sahlholm, Johanna Nilsson, Per Svenningsson
Sakurai, Akihiro
- Open AccessPossible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral SclerosisShin Hisahara, Ayumi Nishiyama, Emiko Tsuda, Syuuichirou Suzuki, Akihiro Matsumura, Aki Ishikawa, Akihiro Sakurai, Ikuko N. Motoike, Masashi Aoki, Yoko Aoki, Shun Shimohama
Salachas, François
- Open AccessWho and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington DiseaseMaria del Mar Amador, Marcela Gargiulo, Christilla Boucher, Ariane Herson, Stéphanie Staraci, François Salachas, Fabienne Clot, Cécile Cazeneuve, Isabelle Le Ber, Alexandra Durr
Sandu, Magdalena
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Savichetva, Irina
- Open AccessV374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia ExacerbationsMartin Paucar, Richard Ågren, Tianyi Li, Simon Lissmats, Åsa Bergendal, Jan Weinberg, Daniel Nilsson, Irina Savichetva, Kristoffer Sahlholm, Johanna Nilsson, Per Svenningsson
Selvatici, Rita
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Seroor Jadah, Raafat Hammad
- Open AccessNew Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic SpectraAnnelise Y. Mah-Som, Cristina Skrypnyk, Andrea Guerin, Raafat Hammad Seroor Jadah, Vinayak Nivrutti Vardhan, Robert C. McKinstry, Marwan S. Shinawi
Shatillo, Andriy
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Shimohama, Shun
- Open AccessPossible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral SclerosisShin Hisahara, Ayumi Nishiyama, Emiko Tsuda, Syuuichirou Suzuki, Akihiro Matsumura, Aki Ishikawa, Akihiro Sakurai, Ikuko N. Motoike, Masashi Aoki, Yoko Aoki, Shun Shimohama
Shinawi, Marwan
- Open AccessParoxysmal Kinesigenic Dyskinesia in Twins With Chromosome 16p11.2 Duplication SyndromeKeisuke Ueda, Marwan Shinawi, Toni S. Pearson
Shinawi, Marwan S.
- Open AccessNew Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic SpectraAnnelise Y. Mah-Som, Cristina Skrypnyk, Andrea Guerin, Raafat Hammad Seroor Jadah, Vinayak Nivrutti Vardhan, Robert C. McKinstry, Marwan S. Shinawi
Sifi, Yamina
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Skrypnyk, Cristina
- Open AccessNew Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic SpectraAnnelise Y. Mah-Som, Cristina Skrypnyk, Andrea Guerin, Raafat Hammad Seroor Jadah, Vinayak Nivrutti Vardhan, Robert C. McKinstry, Marwan S. Shinawi
Staraci, Stéphanie
- Open AccessWho and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington DiseaseMaria del Mar Amador, Marcela Gargiulo, Christilla Boucher, Ariane Herson, Stéphanie Staraci, François Salachas, Fabienne Clot, Cécile Cazeneuve, Isabelle Le Ber, Alexandra Durr
Suzuki, Syuuichirou
- Open AccessPossible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral SclerosisShin Hisahara, Ayumi Nishiyama, Emiko Tsuda, Syuuichirou Suzuki, Akihiro Matsumura, Aki Ishikawa, Akihiro Sakurai, Ikuko N. Motoike, Masashi Aoki, Yoko Aoki, Shun Shimohama
Svenningsson, Per
- Open AccessV374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia ExacerbationsMartin Paucar, Richard Ågren, Tianyi Li, Simon Lissmats, Åsa Bergendal, Jan Weinberg, Daniel Nilsson, Irina Savichetva, Kristoffer Sahlholm, Johanna Nilsson, Per Svenningsson
Szabò, Lena
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Takacs, Danielle
- Open AccessEIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher DiseaseDaniel G. Calame, Meagan Hainlen, Danielle Takacs, Leah Ferrante, Kayla Pence, Lisa T. Emrick, Hsiao-Tuan Chao
Tassi, Laura
- Open AccessIs 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
Tozza, Stefano
- Open AccessBedside Head Impulse Test: A Useful Tool for Patients With Sensory AtaxiaStefano Tozza, Andrea Cortese, Aniello Iovino, Marcello Esposito, Natalia Dominik, Rosa Iodice, Fiore Manganelli
Trabanelli, Cecilia
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Truini, Andrea
- Open AccessTrigeminal Neuralgia TRPM8 MutationEnhanced Activation, Basal [Ca2+]i and Menthol ResponseRoberta Gualdani, Jun-Hui Yuan, Philip R. Effraim, Giulia Di Stefano, Andrea Truini, Giorgio Cruccu, Sulayman D. Dib-Hajj, Philippe Gailly, Stephen G. Waxman
Tsuda, Emiko
- Open AccessPossible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral SclerosisShin Hisahara, Ayumi Nishiyama, Emiko Tsuda, Syuuichirou Suzuki, Akihiro Matsumura, Aki Ishikawa, Akihiro Sakurai, Ikuko N. Motoike, Masashi Aoki, Yoko Aoki, Shun Shimohama
U
Ueda, Keisuke
- Open AccessParoxysmal Kinesigenic Dyskinesia in Twins With Chromosome 16p11.2 Duplication SyndromeKeisuke Ueda, Marwan Shinawi, Toni S. Pearson
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van der Plas, Ellen
- Open AccessDMPK mRNA Expression in Human Brain Tissue Throughout the LifespanKathleen E. Langbehn, Zoe Carlson-Stadler, Ellen van der Plas, Marco M. Hefti, Jeffrey D. Dawson, David J. Moser, Peggy C. Nopoulos
Vardhan, Vinayak Nivrutti
- Open AccessNew Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic SpectraAnnelise Y. Mah-Som, Cristina Skrypnyk, Andrea Guerin, Raafat Hammad Seroor Jadah, Vinayak Nivrutti Vardhan, Robert C. McKinstry, Marwan S. Shinawi
Vasile, Daniela
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Vildan, Yurtsever
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Vintan, Mihaela
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Visa, Gabriela
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
Vlodavets, Dmitry
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
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Watling, Mark
- Open AccessCan Anti–β-amyloid Monoclonal Antibodies Work in Autosomal Dominant Alzheimer Disease?Bruno P. Imbimbo, Ugo Lucca, Mark Watling
Waxman, Stephen G.
- Open AccessTrigeminal Neuralgia TRPM8 MutationEnhanced Activation, Basal [Ca2+]i and Menthol ResponseRoberta Gualdani, Jun-Hui Yuan, Philip R. Effraim, Giulia Di Stefano, Andrea Truini, Giorgio Cruccu, Sulayman D. Dib-Hajj, Philippe Gailly, Stephen G. Waxman
Weinberg, Jan
- Open AccessV374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia ExacerbationsMartin Paucar, Richard Ågren, Tianyi Li, Simon Lissmats, Åsa Bergendal, Jan Weinberg, Daniel Nilsson, Irina Savichetva, Kristoffer Sahlholm, Johanna Nilsson, Per Svenningsson
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Yuan, Jun-Hui
- Open AccessTrigeminal Neuralgia TRPM8 MutationEnhanced Activation, Basal [Ca2+]i and Menthol ResponseRoberta Gualdani, Jun-Hui Yuan, Philip R. Effraim, Giulia Di Stefano, Andrea Truini, Giorgio Cruccu, Sulayman D. Dib-Hajj, Philippe Gailly, Stephen G. Waxman
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Ziegler, Marvin
- Open AccessBlended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7Marvin Ziegler, Bianca E. Russell, Kathrin Eberhardt, Gregory Geisel, Angelica D'Amore, Mustafa Sahin, Harley I. Kornblum, Darius Ebrahimi-Fakhari
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