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April 2021; 7 (2)

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A

  1. Abbink, Truus E.M.

    1. Open Access
      LBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations
      Menno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap

  2. Abedi, Vida

    1. Open Access
      Polygenic Risk Scores Augment Stroke Subtyping
      Jiang Li, Durgesh P. Chaudhary, Ayesha Khan, Christoph Griessenauer, David J. Carey, Ramin Zand, Vida Abedi

  3. Aiello, Chiara

    1. Open Access
      LBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations
      Menno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap

  4. Al-Ouran, Rami

    1. Open Access
      Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes
      Isabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman

  5. Alfradique-Dunham, Isabel

    1. Open Access
      Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes
      Isabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman

  6. Alvarez, Karin

    1. Open Access
      LBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations
      Menno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap

  7. Ances, Beau M.

    1. Open Access
      African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants
      Suzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris

B

  1. Bakulski, Kelly M.

    1. Open Access
      Cumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based Cohort
      Kelly M. Bakulski, Harita S. Vadari, Jessica D. Faul, Steven G. Heeringa, Sharon L.R. Kardia, Kenneth M. Langa, Jennifer A. Smith, Jennifer J. Manly, Colter M. Mitchell, Kelly S. Benke, Erin B. Ware

  2. Barba, Carmen

    1. Open Access
      Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder
      Kenneth A. Myers, Carla Marini, Gemma L. Carvill, Amy McTague, Julie Panetta, Chloe Stutterd, Thorsten Stanley, Samantha Marin, John Nguyen, Carmen Barba, Anna Rosati, Richard H. Scott, Heather C. Mefford, Renzo Guerrini, Ingrid E. Scheffer

  3. Barkovich, A. James

    1. Open Access
      Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia
      Daphne J. Smits, Rachel Schot, Martina Wilke, Marjon van Slegtenhorst, Marie Claire Y. de Wit, Marjolein H.G. Dremmen, William B. Dobyns, A. James Barkovich, Grazia M.S. Mancini

  4. Barnes, Lisa L.

    1. Open Access
      Interactive Effects of HLA and GM Alleles on the Development of Alzheimer Disease
      Janardan P. Pandey, Paul J. Nietert, Ronald T. Kothera, Lisa L. Barnes, David A. Bennett

  5. Barsottini, Orlando G.

    1. Open Access
      PRPS1 Gene Mutation Causes Complex X-Linked Adult-Onset Cerebellar Ataxia in Women
      Flávio M. Rezende Filho, Mariana M. Palma, José Luiz Pedroso, Orlando G. Barsottini, Juliana M. Sallum

  6. Basel-Salmon, Lina

    1. Open Access
      Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin
      Adi Wilf-Yarkoni, Oded Shor, Avi Fellner, Mark Andrew Hellmann, Elon Pras, Hagit Yonath, Shiri Shkedi-Rafid, Lina Basel-Salmon, Lili Bazak, Ruth Eliahou, Lior Greenbaum, Hadas Stiebel-Kalish, Felix Benninger, Yael Goldberg

  7. Bassez, Guillaume

    1. Open Access
      Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1
      Stephan Wenninger, Sarah A. Cumming, Kristina Gutschmidt, Kees Okkersen, Aura Cecilia Jimenez-Moreno, Ferroudja Daidj, Hanns Lochmüller, Fiona Hogarth, Hans Knoop, Guillaume Bassez, Darren G. Monckton, Baziel G.M. van Engelen, Benedikt Schoser

  8. Bassi, Maria Teresa

    1. Open Access
      U-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 Gene
      Giacomo Sferruzza, Andrea Del Bondio, Andrea Citterio, Paolo Vezzulli, Simone Guerrieri, Marta Radaelli, Filippo Martinelli Boneschi, Massimo Filippi, Francesca Maltecca, Maria Teresa Bassi, Marina Scarlato

  9. Bauer, Noel J.C.

    1. Open Access
      Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital PorencephalyA Case Report
      Mariel W.A. Teunissen, Erik-Jan Kamsteeg, Suzanne C.E.H. Sallevelt, Maartje Pennings, Noel J.C. Bauer, R. Jeroen Vermeulen, Joost Nicolai

  10. Bazak, Lili

    1. Open Access
      Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin
      Adi Wilf-Yarkoni, Oded Shor, Avi Fellner, Mark Andrew Hellmann, Elon Pras, Hagit Yonath, Shiri Shkedi-Rafid, Lina Basel-Salmon, Lili Bazak, Ruth Eliahou, Lior Greenbaum, Hadas Stiebel-Kalish, Felix Benninger, Yael Goldberg

  11. Bellacchio, Emanuele

    1. Open Access
      LBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations
      Menno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap

  12. Bello-Espinosa, Lourdes

    1. Open Access
      Erythromelalgia: A Child With V400M Mutation in the SCN9A Gene
      Chineze Nwebube, Sabrina Bulancea, Adrian Marchidann, Lourdes Bello-Espinosa, Simona Treidler

  13. Benke, Kelly S.

    1. Open Access
      Cumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based Cohort
      Kelly M. Bakulski, Harita S. Vadari, Jessica D. Faul, Steven G. Heeringa, Sharon L.R. Kardia, Kenneth M. Langa, Jennifer A. Smith, Jennifer J. Manly, Colter M. Mitchell, Kelly S. Benke, Erin B. Ware

  14. Bennett, David A.

    1. Open Access
      Interactive Effects of HLA and GM Alleles on the Development of Alzheimer Disease
      Janardan P. Pandey, Paul J. Nietert, Ronald T. Kothera, Lisa L. Barnes, David A. Bennett

  15. Benninger, Felix

    1. Open Access
      Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin
      Adi Wilf-Yarkoni, Oded Shor, Avi Fellner, Mark Andrew Hellmann, Elon Pras, Hagit Yonath, Shiri Shkedi-Rafid, Lina Basel-Salmon, Lili Bazak, Ruth Eliahou, Lior Greenbaum, Hadas Stiebel-Kalish, Felix Benninger, Yael Goldberg

  16. Benzinger, Tammie L.S.

    1. Open Access
      African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants
      Suzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris

  17. Bertini, Enrico S.

    1. Open Access
      LBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations
      Menno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap

  18. Bhatia, Kailash P.

    1. Open Access
      Expanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide Expansions
      Carlos Estevez-Fraga, Francesca Magrinelli, Davina Hensman Moss, Eoin Mulroy, Giulia Di Lazzaro, Anna Latorre, Melissa Mackenzie, Henry Houlden, Sarah J. Tabrizi, Kailash P. Bhatia

  19. Blauwendraat, Cornelis

    1. Open Access
      Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes
      Isabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman

  20. Bruhn, Helene

    1. Open Access
      Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy
      Helene Bruhn, Kristin Samuelsson, Florian A. Schober, Martin Engvall, Nicole Lesko, Rolf Wibom, Inger Nennesmo, Javier Calvo-Garrido, Rayomand Press, Henrik Stranneheim, Christoph Freyer, Anna Wedell, Anna Wredenberg

  21. Bulancea, Sabrina

    1. Open Access
      Erythromelalgia: A Child With V400M Mutation in the SCN9A Gene
      Chineze Nwebube, Sabrina Bulancea, Adrian Marchidann, Lourdes Bello-Espinosa, Simona Treidler

C

  1. Calvo-Garrido, Javier

    1. Open Access
      Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy
      Helene Bruhn, Kristin Samuelsson, Florian A. Schober, Martin Engvall, Nicole Lesko, Rolf Wibom, Inger Nennesmo, Javier Calvo-Garrido, Rayomand Press, Henrik Stranneheim, Christoph Freyer, Anna Wedell, Anna Wredenberg

  2. Carey, David J.

    1. Open Access
      Polygenic Risk Scores Augment Stroke Subtyping
      Jiang Li, Durgesh P. Chaudhary, Ayesha Khan, Christoph Griessenauer, David J. Carey, Ramin Zand, Vida Abedi

  3. Carvill, Gemma L.

    1. Open Access
      Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder
      Kenneth A. Myers, Carla Marini, Gemma L. Carvill, Amy McTague, Julie Panetta, Chloe Stutterd, Thorsten Stanley, Samantha Marin, John Nguyen, Carmen Barba, Anna Rosati, Richard H. Scott, Heather C. Mefford, Renzo Guerrini, Ingrid E. Scheffer

  4. Castiglioni, Claudia

    1. Open Access
      LBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations
      Menno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap

  5. Chaudhary, Durgesh P.

    1. Open Access
      Polygenic Risk Scores Augment Stroke Subtyping
      Jiang Li, Durgesh P. Chaudhary, Ayesha Khan, Christoph Griessenauer, David J. Carey, Ramin Zand, Vida Abedi

  6. Chow, Gabriel

    1. Open Access
      LBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations
      Menno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap

  7. Citterio, Andrea

    1. Open Access
      U-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 Gene
      Giacomo Sferruzza, Andrea Del Bondio, Andrea Citterio, Paolo Vezzulli, Simone Guerrieri, Marta Radaelli, Filippo Martinelli Boneschi, Massimo Filippi, Francesca Maltecca, Maria Teresa Bassi, Marina Scarlato

  8. Cruchaga, Carlos

    1. Open Access
      African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants
      Suzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris

  9. Cumming, Sarah A.

    1. Open Access
      Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1
      Stephan Wenninger, Sarah A. Cumming, Kristina Gutschmidt, Kees Okkersen, Aura Cecilia Jimenez-Moreno, Ferroudja Daidj, Hanns Lochmüller, Fiona Hogarth, Hans Knoop, Guillaume Bassez, Darren G. Monckton, Baziel G.M. van Engelen, Benedikt Schoser
    2. Open Access
      Neurocognitive Features of Motor Premanifest Individuals With Myotonic Dystrophy Type 1
      Ellen van der Plas, Timothy R. Koscik, Vincent Magnotta, Sarah A. Cumming, Darren Monckton, Laurie Gutmann, Peggy Nopoulos

D

  1. Daidj, Ferroudja

    1. Open Access
      Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1
      Stephan Wenninger, Sarah A. Cumming, Kristina Gutschmidt, Kees Okkersen, Aura Cecilia Jimenez-Moreno, Ferroudja Daidj, Hanns Lochmüller, Fiona Hogarth, Hans Knoop, Guillaume Bassez, Darren G. Monckton, Baziel G.M. van Engelen, Benedikt Schoser

  2. Dallabona, Cristina

    1. Open Access
      LBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations
      Menno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap

  3. Damásio, Joana

    1. Open Access
      Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global Populations
      Kyoko Hoshino, Kathleen J. Sweadner, Toshitaka Kawarai, Jonas Alex Saute, Joel Freitas, Joana Damásio, Karina C. Donis, Kazue Kimura, Hideki Fukuda, Masaharu Hayashi, Tetsuya Higuchi, Yoshio Ikeda, Laurie J. Ozelius, Ryuji Kaji

  4. Del Bondio, Andrea

    1. Open Access
      U-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 Gene
      Giacomo Sferruzza, Andrea Del Bondio, Andrea Citterio, Paolo Vezzulli, Simone Guerrieri, Marta Radaelli, Filippo Martinelli Boneschi, Massimo Filippi, Francesca Maltecca, Maria Teresa Bassi, Marina Scarlato

  5. Deming, Yuetiva

    1. Open Access
      African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants
      Suzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris

  6. de Wit, Marie Claire Y.

    1. Open Access
      Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia
      Daphne J. Smits, Rachel Schot, Martina Wilke, Marjon van Slegtenhorst, Marie Claire Y. de Wit, Marjolein H.G. Dremmen, William B. Dobyns, A. James Barkovich, Grazia M.S. Mancini

  7. Dietrich, Pierre-Yves

    1. Open Access
      Clonal Evolution of a High-Grade Pediatric Glioma With Distant Metastatic Spread
      Eliana Marinari, Valerie Dutoit, Sergey Nikolaev, Maria-Isabel Vargas, Karl Schaller, Johannes Alexander Lobrinus, Pierre-Yves Dietrich, Petros Tsantoulis, Denis Migliorini

  8. Di Lazzaro, Giulia

    1. Open Access
      Expanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide Expansions
      Carlos Estevez-Fraga, Francesca Magrinelli, Davina Hensman Moss, Eoin Mulroy, Giulia Di Lazzaro, Anna Latorre, Melissa Mackenzie, Henry Houlden, Sarah J. Tabrizi, Kailash P. Bhatia

  9. Dobyns, William B.

    1. Open Access
      Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia
      Daphne J. Smits, Rachel Schot, Martina Wilke, Marjon van Slegtenhorst, Marie Claire Y. de Wit, Marjolein H.G. Dremmen, William B. Dobyns, A. James Barkovich, Grazia M.S. Mancini

  10. Donis, Karina C.

    1. Open Access
      Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global Populations
      Kyoko Hoshino, Kathleen J. Sweadner, Toshitaka Kawarai, Jonas Alex Saute, Joel Freitas, Joana Damásio, Karina C. Donis, Kazue Kimura, Hideki Fukuda, Masaharu Hayashi, Tetsuya Higuchi, Yoshio Ikeda, Laurie J. Ozelius, Ryuji Kaji

  11. Dremmen, Marjolein H.G.

    1. Open Access
      Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia
      Daphne J. Smits, Rachel Schot, Martina Wilke, Marjon van Slegtenhorst, Marie Claire Y. de Wit, Marjolein H.G. Dremmen, William B. Dobyns, A. James Barkovich, Grazia M.S. Mancini

  12. Dutoit, Valerie

    1. Open Access
      Clonal Evolution of a High-Grade Pediatric Glioma With Distant Metastatic Spread
      Eliana Marinari, Valerie Dutoit, Sergey Nikolaev, Maria-Isabel Vargas, Karl Schaller, Johannes Alexander Lobrinus, Pierre-Yves Dietrich, Petros Tsantoulis, Denis Migliorini

E

  1. Eliahou, Ruth

    1. Open Access
      Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin
      Adi Wilf-Yarkoni, Oded Shor, Avi Fellner, Mark Andrew Hellmann, Elon Pras, Hagit Yonath, Shiri Shkedi-Rafid, Lina Basel-Salmon, Lili Bazak, Ruth Eliahou, Lior Greenbaum, Hadas Stiebel-Kalish, Felix Benninger, Yael Goldberg

  2. Engvall, Martin

    1. Open Access
      Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy
      Helene Bruhn, Kristin Samuelsson, Florian A. Schober, Martin Engvall, Nicole Lesko, Rolf Wibom, Inger Nennesmo, Javier Calvo-Garrido, Rayomand Press, Henrik Stranneheim, Christoph Freyer, Anna Wedell, Anna Wredenberg

  3. Erasmus, Corrie E.

    1. Open Access
      LBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations
      Menno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap

  4. Estevez-Fraga, Carlos

    1. Open Access
      Expanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide Expansions
      Carlos Estevez-Fraga, Francesca Magrinelli, Davina Hensman Moss, Eoin Mulroy, Giulia Di Lazzaro, Anna Latorre, Melissa Mackenzie, Henry Houlden, Sarah J. Tabrizi, Kailash P. Bhatia

F

  1. Fagan, Anne M.

    1. Open Access
      African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants
      Suzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris

  2. Farias, Fabiana H.G.

    1. Open Access
      African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants
      Suzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris

  3. Faul, Jessica D.

    1. Open Access
      Cumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based Cohort
      Kelly M. Bakulski, Harita S. Vadari, Jessica D. Faul, Steven G. Heeringa, Sharon L.R. Kardia, Kenneth M. Langa, Jennifer A. Smith, Jennifer J. Manly, Colter M. Mitchell, Kelly S. Benke, Erin B. Ware

  4. Fellner, Avi

    1. Open Access
      Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin
      Adi Wilf-Yarkoni, Oded Shor, Avi Fellner, Mark Andrew Hellmann, Elon Pras, Hagit Yonath, Shiri Shkedi-Rafid, Lina Basel-Salmon, Lili Bazak, Ruth Eliahou, Lior Greenbaum, Hadas Stiebel-Kalish, Felix Benninger, Yael Goldberg

  5. Figuccia, Sonia

    1. Open Access
      LBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations
      Menno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap

  6. Filippi, Massimo

    1. Open Access
      U-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 Gene
      Giacomo Sferruzza, Andrea Del Bondio, Andrea Citterio, Paolo Vezzulli, Simone Guerrieri, Marta Radaelli, Filippo Martinelli Boneschi, Massimo Filippi, Francesca Maltecca, Maria Teresa Bassi, Marina Scarlato

  7. Freitas, Joel

    1. Open Access
      Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global Populations
      Kyoko Hoshino, Kathleen J. Sweadner, Toshitaka Kawarai, Jonas Alex Saute, Joel Freitas, Joana Damásio, Karina C. Donis, Kazue Kimura, Hideki Fukuda, Masaharu Hayashi, Tetsuya Higuchi, Yoshio Ikeda, Laurie J. Ozelius, Ryuji Kaji

  8. Freyer, Christoph

    1. Open Access
      Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy
      Helene Bruhn, Kristin Samuelsson, Florian A. Schober, Martin Engvall, Nicole Lesko, Rolf Wibom, Inger Nennesmo, Javier Calvo-Garrido, Rayomand Press, Henrik Stranneheim, Christoph Freyer, Anna Wedell, Anna Wredenberg

  9. Fukuda, Hideki

    1. Open Access
      Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global Populations
      Kyoko Hoshino, Kathleen J. Sweadner, Toshitaka Kawarai, Jonas Alex Saute, Joel Freitas, Joana Damásio, Karina C. Donis, Kazue Kimura, Hideki Fukuda, Masaharu Hayashi, Tetsuya Higuchi, Yoshio Ikeda, Laurie J. Ozelius, Ryuji Kaji

G

  1. Gao, Dadi

    1. Open Access
      Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing
      Jose-Alberto Palma, Rachita Yadav, Dadi Gao, Lucy Norcliffe-Kaufmann, Susan Slaugenhaupt, Horacio Kaufmann

  2. Goffrini, Paola

    1. Open Access
      LBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations
      Menno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap

  3. Goldberg, Yael

    1. Open Access
      Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin
      Adi Wilf-Yarkoni, Oded Shor, Avi Fellner, Mark Andrew Hellmann, Elon Pras, Hagit Yonath, Shiri Shkedi-Rafid, Lina Basel-Salmon, Lili Bazak, Ruth Eliahou, Lior Greenbaum, Hadas Stiebel-Kalish, Felix Benninger, Yael Goldberg

  4. Greenbaum, Lior

    1. Open Access
      Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin
      Adi Wilf-Yarkoni, Oded Shor, Avi Fellner, Mark Andrew Hellmann, Elon Pras, Hagit Yonath, Shiri Shkedi-Rafid, Lina Basel-Salmon, Lili Bazak, Ruth Eliahou, Lior Greenbaum, Hadas Stiebel-Kalish, Felix Benninger, Yael Goldberg

  5. Griessenauer, Christoph

    1. Open Access
      Polygenic Risk Scores Augment Stroke Subtyping
      Jiang Li, Durgesh P. Chaudhary, Ayesha Khan, Christoph Griessenauer, David J. Carey, Ramin Zand, Vida Abedi

  6. Grosset, Donald

    1. Open Access
      Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes
      Isabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman

  7. Guerrieri, Simone

    1. Open Access
      U-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 Gene
      Giacomo Sferruzza, Andrea Del Bondio, Andrea Citterio, Paolo Vezzulli, Simone Guerrieri, Marta Radaelli, Filippo Martinelli Boneschi, Massimo Filippi, Francesca Maltecca, Maria Teresa Bassi, Marina Scarlato

  8. Guerrini, Renzo

    1. Open Access
      Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder
      Kenneth A. Myers, Carla Marini, Gemma L. Carvill, Amy McTague, Julie Panetta, Chloe Stutterd, Thorsten Stanley, Samantha Marin, John Nguyen, Carmen Barba, Anna Rosati, Richard H. Scott, Heather C. Mefford, Renzo Guerrini, Ingrid E. Scheffer

  9. Gutmann, Laurie

    1. Open Access
      Neurocognitive Features of Motor Premanifest Individuals With Myotonic Dystrophy Type 1
      Ellen van der Plas, Timothy R. Koscik, Vincent Magnotta, Sarah A. Cumming, Darren Monckton, Laurie Gutmann, Peggy Nopoulos

  10. Gutschmidt, Kristina

    1. Open Access
      Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1
      Stephan Wenninger, Sarah A. Cumming, Kristina Gutschmidt, Kees Okkersen, Aura Cecilia Jimenez-Moreno, Ferroudja Daidj, Hanns Lochmüller, Fiona Hogarth, Hans Knoop, Guillaume Bassez, Darren G. Monckton, Baziel G.M. van Engelen, Benedikt Schoser

H

  1. Hayashi, Masaharu

    1. Open Access
      Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global Populations
      Kyoko Hoshino, Kathleen J. Sweadner, Toshitaka Kawarai, Jonas Alex Saute, Joel Freitas, Joana Damásio, Karina C. Donis, Kazue Kimura, Hideki Fukuda, Masaharu Hayashi, Tetsuya Higuchi, Yoshio Ikeda, Laurie J. Ozelius, Ryuji Kaji

  2. Heeringa, Steven G.

    1. Open Access
      Cumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based Cohort
      Kelly M. Bakulski, Harita S. Vadari, Jessica D. Faul, Steven G. Heeringa, Sharon L.R. Kardia, Kenneth M. Langa, Jennifer A. Smith, Jennifer J. Manly, Colter M. Mitchell, Kelly S. Benke, Erin B. Ware

  3. Hellmann, Mark Andrew

    1. Open Access
      Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin
      Adi Wilf-Yarkoni, Oded Shor, Avi Fellner, Mark Andrew Hellmann, Elon Pras, Hagit Yonath, Shiri Shkedi-Rafid, Lina Basel-Salmon, Lili Bazak, Ruth Eliahou, Lior Greenbaum, Hadas Stiebel-Kalish, Felix Benninger, Yael Goldberg

  4. Hensman Moss, Davina

    1. Open Access
      Expanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide Expansions
      Carlos Estevez-Fraga, Francesca Magrinelli, Davina Hensman Moss, Eoin Mulroy, Giulia Di Lazzaro, Anna Latorre, Melissa Mackenzie, Henry Houlden, Sarah J. Tabrizi, Kailash P. Bhatia

  5. Henson, Rachel L.

    1. Open Access
      African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants
      Suzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris

  6. Hernandez, Dena

    1. Open Access
      Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes
      Isabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman

  7. Higuchi, Tetsuya

    1. Open Access
      Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global Populations
      Kyoko Hoshino, Kathleen J. Sweadner, Toshitaka Kawarai, Jonas Alex Saute, Joel Freitas, Joana Damásio, Karina C. Donis, Kazue Kimura, Hideki Fukuda, Masaharu Hayashi, Tetsuya Higuchi, Yoshio Ikeda, Laurie J. Ozelius, Ryuji Kaji

  8. Hill, Emily

    1. Open Access
      Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes
      Isabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman

  9. Hogarth, Fiona

    1. Open Access
      Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1
      Stephan Wenninger, Sarah A. Cumming, Kristina Gutschmidt, Kees Okkersen, Aura Cecilia Jimenez-Moreno, Ferroudja Daidj, Hanns Lochmüller, Fiona Hogarth, Hans Knoop, Guillaume Bassez, Darren G. Monckton, Baziel G.M. van Engelen, Benedikt Schoser

  10. Holtzman, David M.

    1. Open Access
      African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants
      Suzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris

  11. Hoshino, Kyoko

    1. Open Access
      Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global Populations
      Kyoko Hoshino, Kathleen J. Sweadner, Toshitaka Kawarai, Jonas Alex Saute, Joel Freitas, Joana Damásio, Karina C. Donis, Kazue Kimura, Hideki Fukuda, Masaharu Hayashi, Tetsuya Higuchi, Yoshio Ikeda, Laurie J. Ozelius, Ryuji Kaji

  12. Houlden, Henry

    1. Open Access
      Expanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide Expansions
      Carlos Estevez-Fraga, Francesca Magrinelli, Davina Hensman Moss, Eoin Mulroy, Giulia Di Lazzaro, Anna Latorre, Melissa Mackenzie, Henry Houlden, Sarah J. Tabrizi, Kailash P. Bhatia

  13. Hughes, Sarah

    1. Open Access
      LBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations
      Menno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap

I

  1. Ikeda, Yoshio

    1. Open Access
      Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global Populations
      Kyoko Hoshino, Kathleen J. Sweadner, Toshitaka Kawarai, Jonas Alex Saute, Joel Freitas, Joana Damásio, Karina C. Donis, Kazue Kimura, Hideki Fukuda, Masaharu Hayashi, Tetsuya Higuchi, Yoshio Ikeda, Laurie J. Ozelius, Ryuji Kaji

J

  1. Jankovic, Joseph

    1. Open Access
      Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes
      Isabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman

  2. Jimenez-Moreno, Aura Cecilia

    1. Open Access
      Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1
      Stephan Wenninger, Sarah A. Cumming, Kristina Gutschmidt, Kees Okkersen, Aura Cecilia Jimenez-Moreno, Ferroudja Daidj, Hanns Lochmüller, Fiona Hogarth, Hans Knoop, Guillaume Bassez, Darren G. Monckton, Baziel G.M. van Engelen, Benedikt Schoser

  3. Joseph, Amulya

    1. Open Access
      African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants
      Suzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris

K

  1. Kaji, Ryuji

    1. Open Access
      Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global Populations
      Kyoko Hoshino, Kathleen J. Sweadner, Toshitaka Kawarai, Jonas Alex Saute, Joel Freitas, Joana Damásio, Karina C. Donis, Kazue Kimura, Hideki Fukuda, Masaharu Hayashi, Tetsuya Higuchi, Yoshio Ikeda, Laurie J. Ozelius, Ryuji Kaji

  2. Kamsteeg, Erik-Jan

    1. Open Access
      Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital PorencephalyA Case Report
      Mariel W.A. Teunissen, Erik-Jan Kamsteeg, Suzanne C.E.H. Sallevelt, Maartje Pennings, Noel J.C. Bauer, R. Jeroen Vermeulen, Joost Nicolai

  3. Kardia, Sharon L.R.

    1. Open Access
      Cumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based Cohort
      Kelly M. Bakulski, Harita S. Vadari, Jessica D. Faul, Steven G. Heeringa, Sharon L.R. Kardia, Kenneth M. Langa, Jennifer A. Smith, Jennifer J. Manly, Colter M. Mitchell, Kelly S. Benke, Erin B. Ware

  4. Kaufmann, Horacio

    1. Open Access
      Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing
      Jose-Alberto Palma, Rachita Yadav, Dadi Gao, Lucy Norcliffe-Kaufmann, Susan Slaugenhaupt, Horacio Kaufmann

  5. Kaw, Anita

    1. Open Access
      Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes
      Isabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman

  6. Kawarai, Toshitaka

    1. Open Access
      Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global Populations
      Kyoko Hoshino, Kathleen J. Sweadner, Toshitaka Kawarai, Jonas Alex Saute, Joel Freitas, Joana Damásio, Karina C. Donis, Kazue Kimura, Hideki Fukuda, Masaharu Hayashi, Tetsuya Higuchi, Yoshio Ikeda, Laurie J. Ozelius, Ryuji Kaji

  7. Khan, Ayesha

    1. Open Access
      Polygenic Risk Scores Augment Stroke Subtyping
      Jiang Li, Durgesh P. Chaudhary, Ayesha Khan, Christoph Griessenauer, David J. Carey, Ramin Zand, Vida Abedi

  8. Kimura, Kazue

    1. Open Access
      Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global Populations
      Kyoko Hoshino, Kathleen J. Sweadner, Toshitaka Kawarai, Jonas Alex Saute, Joel Freitas, Joana Damásio, Karina C. Donis, Kazue Kimura, Hideki Fukuda, Masaharu Hayashi, Tetsuya Higuchi, Yoshio Ikeda, Laurie J. Ozelius, Ryuji Kaji

  9. Knoop, Hans

    1. Open Access
      Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1
      Stephan Wenninger, Sarah A. Cumming, Kristina Gutschmidt, Kees Okkersen, Aura Cecilia Jimenez-Moreno, Ferroudja Daidj, Hanns Lochmüller, Fiona Hogarth, Hans Knoop, Guillaume Bassez, Darren G. Monckton, Baziel G.M. van Engelen, Benedikt Schoser

  10. Koscik, Timothy R.

    1. Open Access
      Neurocognitive Features of Motor Premanifest Individuals With Myotonic Dystrophy Type 1
      Ellen van der Plas, Timothy R. Koscik, Vincent Magnotta, Sarah A. Cumming, Darren Monckton, Laurie Gutmann, Peggy Nopoulos

  11. Kothera, Ronald T.

    1. Open Access
      Interactive Effects of HLA and GM Alleles on the Development of Alzheimer Disease
      Janardan P. Pandey, Paul J. Nietert, Ronald T. Kothera, Lisa L. Barnes, David A. Bennett

L

  1. Langa, Kenneth M.

    1. Open Access
      Cumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based Cohort
      Kelly M. Bakulski, Harita S. Vadari, Jessica D. Faul, Steven G. Heeringa, Sharon L.R. Kardia, Kenneth M. Langa, Jennifer A. Smith, Jennifer J. Manly, Colter M. Mitchell, Kelly S. Benke, Erin B. Ware

  2. Latorre, Anna

    1. Open Access
      Expanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide Expansions
      Carlos Estevez-Fraga, Francesca Magrinelli, Davina Hensman Moss, Eoin Mulroy, Giulia Di Lazzaro, Anna Latorre, Melissa Mackenzie, Henry Houlden, Sarah J. Tabrizi, Kailash P. Bhatia

  3. Lebon, Sebastien

    1. Open Access
      LBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations
      Menno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap

  4. Lesko, Nicole

    1. Open Access
      Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy
      Helene Bruhn, Kristin Samuelsson, Florian A. Schober, Martin Engvall, Nicole Lesko, Rolf Wibom, Inger Nennesmo, Javier Calvo-Garrido, Rayomand Press, Henrik Stranneheim, Christoph Freyer, Anna Wedell, Anna Wredenberg

  5. Li, Jiang

    1. Open Access
      Polygenic Risk Scores Augment Stroke Subtyping
      Jiang Li, Durgesh P. Chaudhary, Ayesha Khan, Christoph Griessenauer, David J. Carey, Ramin Zand, Vida Abedi

  6. Liao, Calwing

    1. Open Access
      Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes
      Isabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman

  7. Liu, Zhandong

    1. Open Access
      Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes
      Isabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman

  8. Lleó, Alberto

    1. Open Access
      Race and Alzheimer Disease BiomarkersA Neglected Race
      Alberto Lleó, Marc Suárez-Calvet

  9. Llibre-Guerra, Jorge J.

    1. Open Access
      African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants
      Suzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris

  10. Lobrinus, Johannes Alexander

    1. Open Access
      Clonal Evolution of a High-Grade Pediatric Glioma With Distant Metastatic Spread
      Eliana Marinari, Valerie Dutoit, Sergey Nikolaev, Maria-Isabel Vargas, Karl Schaller, Johannes Alexander Lobrinus, Pierre-Yves Dietrich, Petros Tsantoulis, Denis Migliorini

  11. Lochmüller, Hanns

    1. Open Access
      Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1
      Stephan Wenninger, Sarah A. Cumming, Kristina Gutschmidt, Kees Okkersen, Aura Cecilia Jimenez-Moreno, Ferroudja Daidj, Hanns Lochmüller, Fiona Hogarth, Hans Knoop, Guillaume Bassez, Darren G. Monckton, Baziel G.M. van Engelen, Benedikt Schoser

  12. Luo, Lan

    1. Open Access
      Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes
      Isabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman

M

  1. Mackenzie, Melissa

    1. Open Access
      Expanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide Expansions
      Carlos Estevez-Fraga, Francesca Magrinelli, Davina Hensman Moss, Eoin Mulroy, Giulia Di Lazzaro, Anna Latorre, Melissa Mackenzie, Henry Houlden, Sarah J. Tabrizi, Kailash P. Bhatia

  2. Magnotta, Vincent

    1. Open Access
      Neurocognitive Features of Motor Premanifest Individuals With Myotonic Dystrophy Type 1
      Ellen van der Plas, Timothy R. Koscik, Vincent Magnotta, Sarah A. Cumming, Darren Monckton, Laurie Gutmann, Peggy Nopoulos

  3. Magrinelli, Francesca

    1. Open Access
      Expanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide Expansions
      Carlos Estevez-Fraga, Francesca Magrinelli, Davina Hensman Moss, Eoin Mulroy, Giulia Di Lazzaro, Anna Latorre, Melissa Mackenzie, Henry Houlden, Sarah J. Tabrizi, Kailash P. Bhatia

  4. Maltecca, Francesca

    1. Open Access
      U-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 Gene
      Giacomo Sferruzza, Andrea Del Bondio, Andrea Citterio, Paolo Vezzulli, Simone Guerrieri, Marta Radaelli, Filippo Martinelli Boneschi, Massimo Filippi, Francesca Maltecca, Maria Teresa Bassi, Marina Scarlato

  5. Mancini, Grazia M.S.

    1. Open Access
      Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia
      Daphne J. Smits, Rachel Schot, Martina Wilke, Marjon van Slegtenhorst, Marie Claire Y. de Wit, Marjolein H.G. Dremmen, William B. Dobyns, A. James Barkovich, Grazia M.S. Mancini

  6. Manly, Jennifer J.

    1. Open Access
      Cumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based Cohort
      Kelly M. Bakulski, Harita S. Vadari, Jessica D. Faul, Steven G. Heeringa, Sharon L.R. Kardia, Kenneth M. Langa, Jennifer A. Smith, Jennifer J. Manly, Colter M. Mitchell, Kelly S. Benke, Erin B. Ware

  7. Marchidann, Adrian

    1. Open Access
      Erythromelalgia: A Child With V400M Mutation in the SCN9A Gene
      Chineze Nwebube, Sabrina Bulancea, Adrian Marchidann, Lourdes Bello-Espinosa, Simona Treidler

  8. Marin, Samantha

    1. Open Access
      Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder
      Kenneth A. Myers, Carla Marini, Gemma L. Carvill, Amy McTague, Julie Panetta, Chloe Stutterd, Thorsten Stanley, Samantha Marin, John Nguyen, Carmen Barba, Anna Rosati, Richard H. Scott, Heather C. Mefford, Renzo Guerrini, Ingrid E. Scheffer

  9. Marinari, Eliana

    1. Open Access
      Clonal Evolution of a High-Grade Pediatric Glioma With Distant Metastatic Spread
      Eliana Marinari, Valerie Dutoit, Sergey Nikolaev, Maria-Isabel Vargas, Karl Schaller, Johannes Alexander Lobrinus, Pierre-Yves Dietrich, Petros Tsantoulis, Denis Migliorini

  10. Marini, Carla

    1. Open Access
      Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder
      Kenneth A. Myers, Carla Marini, Gemma L. Carvill, Amy McTague, Julie Panetta, Chloe Stutterd, Thorsten Stanley, Samantha Marin, John Nguyen, Carmen Barba, Anna Rosati, Richard H. Scott, Heather C. Mefford, Renzo Guerrini, Ingrid E. Scheffer

  11. Martinelli Boneschi, Filippo

    1. Open Access
      U-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 Gene
      Giacomo Sferruzza, Andrea Del Bondio, Andrea Citterio, Paolo Vezzulli, Simone Guerrieri, Marta Radaelli, Filippo Martinelli Boneschi, Massimo Filippi, Francesca Maltecca, Maria Teresa Bassi, Marina Scarlato

  12. McCue, Lena

    1. Open Access
      African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants
      Suzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris

  13. McTague, Amy

    1. Open Access
      Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder
      Kenneth A. Myers, Carla Marini, Gemma L. Carvill, Amy McTague, Julie Panetta, Chloe Stutterd, Thorsten Stanley, Samantha Marin, John Nguyen, Carmen Barba, Anna Rosati, Richard H. Scott, Heather C. Mefford, Renzo Guerrini, Ingrid E. Scheffer

  14. Mefford, Heather C.

    1. Open Access
      Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder
      Kenneth A. Myers, Carla Marini, Gemma L. Carvill, Amy McTague, Julie Panetta, Chloe Stutterd, Thorsten Stanley, Samantha Marin, John Nguyen, Carmen Barba, Anna Rosati, Richard H. Scott, Heather C. Mefford, Renzo Guerrini, Ingrid E. Scheffer

  15. Migliorini, Denis

    1. Open Access
      Clonal Evolution of a High-Grade Pediatric Glioma With Distant Metastatic Spread
      Eliana Marinari, Valerie Dutoit, Sergey Nikolaev, Maria-Isabel Vargas, Karl Schaller, Johannes Alexander Lobrinus, Pierre-Yves Dietrich, Petros Tsantoulis, Denis Migliorini

  16. Mikesell, Robert J.

    1. Open Access
      African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants
      Suzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris

  17. Mitchell, Colter M.

    1. Open Access
      Cumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based Cohort
      Kelly M. Bakulski, Harita S. Vadari, Jessica D. Faul, Steven G. Heeringa, Sharon L.R. Kardia, Kenneth M. Langa, Jennifer A. Smith, Jennifer J. Manly, Colter M. Mitchell, Kelly S. Benke, Erin B. Ware

  18. Monckton, Darren

    1. Open Access
      Neurocognitive Features of Motor Premanifest Individuals With Myotonic Dystrophy Type 1
      Ellen van der Plas, Timothy R. Koscik, Vincent Magnotta, Sarah A. Cumming, Darren Monckton, Laurie Gutmann, Peggy Nopoulos

  19. Monckton, Darren G.

    1. Open Access
      Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1
      Stephan Wenninger, Sarah A. Cumming, Kristina Gutschmidt, Kees Okkersen, Aura Cecilia Jimenez-Moreno, Ferroudja Daidj, Hanns Lochmüller, Fiona Hogarth, Hans Knoop, Guillaume Bassez, Darren G. Monckton, Baziel G.M. van Engelen, Benedikt Schoser

  20. Morris, Huw

    1. Open Access
      Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes
      Isabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman

  21. Morris, John C.

    1. Open Access
      African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants
      Suzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris

  22. Moulder, Krista L.

    1. Open Access
      African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants
      Suzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris

  23. Mulroy, Eoin

    1. Open Access
      Expanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide Expansions
      Carlos Estevez-Fraga, Francesca Magrinelli, Davina Hensman Moss, Eoin Mulroy, Giulia Di Lazzaro, Anna Latorre, Melissa Mackenzie, Henry Houlden, Sarah J. Tabrizi, Kailash P. Bhatia

  24. Myers, Kenneth A.

    1. Open Access
      Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder
      Kenneth A. Myers, Carla Marini, Gemma L. Carvill, Amy McTague, Julie Panetta, Chloe Stutterd, Thorsten Stanley, Samantha Marin, John Nguyen, Carmen Barba, Anna Rosati, Richard H. Scott, Heather C. Mefford, Renzo Guerrini, Ingrid E. Scheffer

N

  1. Nalls, Mike

    1. Open Access
      Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes
      Isabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman

  2. Nennesmo, Inger

    1. Open Access
      Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy
      Helene Bruhn, Kristin Samuelsson, Florian A. Schober, Martin Engvall, Nicole Lesko, Rolf Wibom, Inger Nennesmo, Javier Calvo-Garrido, Rayomand Press, Henrik Stranneheim, Christoph Freyer, Anna Wedell, Anna Wredenberg

  3. Nguyen, John

    1. Open Access
      Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder
      Kenneth A. Myers, Carla Marini, Gemma L. Carvill, Amy McTague, Julie Panetta, Chloe Stutterd, Thorsten Stanley, Samantha Marin, John Nguyen, Carmen Barba, Anna Rosati, Richard H. Scott, Heather C. Mefford, Renzo Guerrini, Ingrid E. Scheffer

  4. Nicolai, Joost

    1. Open Access
      Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital PorencephalyA Case Report
      Mariel W.A. Teunissen, Erik-Jan Kamsteeg, Suzanne C.E.H. Sallevelt, Maartje Pennings, Noel J.C. Bauer, R. Jeroen Vermeulen, Joost Nicolai

  5. Nietert, Paul J.

    1. Open Access
      Interactive Effects of HLA and GM Alleles on the Development of Alzheimer Disease
      Janardan P. Pandey, Paul J. Nietert, Ronald T. Kothera, Lisa L. Barnes, David A. Bennett

  6. Nikolaev, Sergey

    1. Open Access
      Clonal Evolution of a High-Grade Pediatric Glioma With Distant Metastatic Spread
      Eliana Marinari, Valerie Dutoit, Sergey Nikolaev, Maria-Isabel Vargas, Karl Schaller, Johannes Alexander Lobrinus, Pierre-Yves Dietrich, Petros Tsantoulis, Denis Migliorini

  7. Nopoulos, Peggy

    1. Open Access
      Neurocognitive Features of Motor Premanifest Individuals With Myotonic Dystrophy Type 1
      Ellen van der Plas, Timothy R. Koscik, Vincent Magnotta, Sarah A. Cumming, Darren Monckton, Laurie Gutmann, Peggy Nopoulos

  8. Norcliffe-Kaufmann, Lucy

    1. Open Access
      Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing
      Jose-Alberto Palma, Rachita Yadav, Dadi Gao, Lucy Norcliffe-Kaufmann, Susan Slaugenhaupt, Horacio Kaufmann

  9. Nwebube, Chineze

    1. Open Access
      Erythromelalgia: A Child With V400M Mutation in the SCN9A Gene
      Chineze Nwebube, Sabrina Bulancea, Adrian Marchidann, Lourdes Bello-Espinosa, Simona Treidler

O

  1. Okkersen, Kees

    1. Open Access
      Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1
      Stephan Wenninger, Sarah A. Cumming, Kristina Gutschmidt, Kees Okkersen, Aura Cecilia Jimenez-Moreno, Ferroudja Daidj, Hanns Lochmüller, Fiona Hogarth, Hans Knoop, Guillaume Bassez, Darren G. Monckton, Baziel G.M. van Engelen, Benedikt Schoser

  2. Okuma, Cecilia

    1. Open Access
      LBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations
      Menno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap

  3. Ozelius, Laurie J.

    1. Open Access
      Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global Populations
      Kyoko Hoshino, Kathleen J. Sweadner, Toshitaka Kawarai, Jonas Alex Saute, Joel Freitas, Joana Damásio, Karina C. Donis, Kazue Kimura, Hideki Fukuda, Masaharu Hayashi, Tetsuya Higuchi, Yoshio Ikeda, Laurie J. Ozelius, Ryuji Kaji

P

  1. Palma, Jose-Alberto

    1. Open Access
      Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing
      Jose-Alberto Palma, Rachita Yadav, Dadi Gao, Lucy Norcliffe-Kaufmann, Susan Slaugenhaupt, Horacio Kaufmann

  2. Palma, Mariana M.

    1. Open Access
      PRPS1 Gene Mutation Causes Complex X-Linked Adult-Onset Cerebellar Ataxia in Women
      Flávio M. Rezende Filho, Mariana M. Palma, José Luiz Pedroso, Orlando G. Barsottini, Juliana M. Sallum

  3. Pandey, Janardan P.

    1. Open Access
      Interactive Effects of HLA and GM Alleles on the Development of Alzheimer Disease
      Janardan P. Pandey, Paul J. Nietert, Ronald T. Kothera, Lisa L. Barnes, David A. Bennett

  4. Panetta, Julie

    1. Open Access
      Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder
      Kenneth A. Myers, Carla Marini, Gemma L. Carvill, Amy McTague, Julie Panetta, Chloe Stutterd, Thorsten Stanley, Samantha Marin, John Nguyen, Carmen Barba, Anna Rosati, Richard H. Scott, Heather C. Mefford, Renzo Guerrini, Ingrid E. Scheffer

  5. Pedroso, José Luiz

    1. Open Access
      PRPS1 Gene Mutation Causes Complex X-Linked Adult-Onset Cerebellar Ataxia in Women
      Flávio M. Rezende Filho, Mariana M. Palma, José Luiz Pedroso, Orlando G. Barsottini, Juliana M. Sallum

  6. Pennings, Maartje

    1. Open Access
      Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital PorencephalyA Case Report
      Mariel W.A. Teunissen, Erik-Jan Kamsteeg, Suzanne C.E.H. Sallevelt, Maartje Pennings, Noel J.C. Bauer, R. Jeroen Vermeulen, Joost Nicolai

  7. Piccio, Laura

    1. Open Access
      African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants
      Suzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris

  8. Pihlstrom, Lasse

    1. Open Access
      Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes
      Isabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman

  9. Pras, Elon

    1. Open Access
      Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin
      Adi Wilf-Yarkoni, Oded Shor, Avi Fellner, Mark Andrew Hellmann, Elon Pras, Hagit Yonath, Shiri Shkedi-Rafid, Lina Basel-Salmon, Lili Bazak, Ruth Eliahou, Lior Greenbaum, Hadas Stiebel-Kalish, Felix Benninger, Yael Goldberg

  10. Press, Rayomand

    1. Open Access
      Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy
      Helene Bruhn, Kristin Samuelsson, Florian A. Schober, Martin Engvall, Nicole Lesko, Rolf Wibom, Inger Nennesmo, Javier Calvo-Garrido, Rayomand Press, Henrik Stranneheim, Christoph Freyer, Anna Wedell, Anna Wredenberg

R

  1. Radaelli, Marta

    1. Open Access
      U-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 Gene
      Giacomo Sferruzza, Andrea Del Bondio, Andrea Citterio, Paolo Vezzulli, Simone Guerrieri, Marta Radaelli, Filippo Martinelli Boneschi, Massimo Filippi, Francesca Maltecca, Maria Teresa Bassi, Marina Scarlato

  2. Rahikkala, Elisa

    1. Open Access
      LBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations
      Menno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap

  3. Rezende Filho, Flávio M.

    1. Open Access
      PRPS1 Gene Mutation Causes Complex X-Linked Adult-Onset Cerebellar Ataxia in Women
      Flávio M. Rezende Filho, Mariana M. Palma, José Luiz Pedroso, Orlando G. Barsottini, Juliana M. Sallum

  4. Rosati, Anna

    1. Open Access
      Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder
      Kenneth A. Myers, Carla Marini, Gemma L. Carvill, Amy McTague, Julie Panetta, Chloe Stutterd, Thorsten Stanley, Samantha Marin, John Nguyen, Carmen Barba, Anna Rosati, Richard H. Scott, Heather C. Mefford, Renzo Guerrini, Ingrid E. Scheffer

  5. Rouleau, Guy A.

    1. Open Access
      Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes
      Isabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman

S

  1. Sallevelt, Suzanne C.E.H.

    1. Open Access
      Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital PorencephalyA Case Report
      Mariel W.A. Teunissen, Erik-Jan Kamsteeg, Suzanne C.E.H. Sallevelt, Maartje Pennings, Noel J.C. Bauer, R. Jeroen Vermeulen, Joost Nicolai

  2. Sallum, Juliana M.

    1. Open Access
      PRPS1 Gene Mutation Causes Complex X-Linked Adult-Onset Cerebellar Ataxia in Women
      Flávio M. Rezende Filho, Mariana M. Palma, José Luiz Pedroso, Orlando G. Barsottini, Juliana M. Sallum

  3. Samuelsson, Kristin

    1. Open Access
      Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy
      Helene Bruhn, Kristin Samuelsson, Florian A. Schober, Martin Engvall, Nicole Lesko, Rolf Wibom, Inger Nennesmo, Javier Calvo-Garrido, Rayomand Press, Henrik Stranneheim, Christoph Freyer, Anna Wedell, Anna Wredenberg

  4. Sanchez‐Valle, Amarilis

    1. Open Access
      LBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations
      Menno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap

  5. Saute, Jonas Alex

    1. Open Access
      Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global Populations
      Kyoko Hoshino, Kathleen J. Sweadner, Toshitaka Kawarai, Jonas Alex Saute, Joel Freitas, Joana Damásio, Karina C. Donis, Kazue Kimura, Hideki Fukuda, Masaharu Hayashi, Tetsuya Higuchi, Yoshio Ikeda, Laurie J. Ozelius, Ryuji Kaji

  6. Scarlato, Marina

    1. Open Access
      U-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 Gene
      Giacomo Sferruzza, Andrea Del Bondio, Andrea Citterio, Paolo Vezzulli, Simone Guerrieri, Marta Radaelli, Filippo Martinelli Boneschi, Massimo Filippi, Francesca Maltecca, Maria Teresa Bassi, Marina Scarlato

  7. Schaller, Karl

    1. Open Access
      Clonal Evolution of a High-Grade Pediatric Glioma With Distant Metastatic Spread
      Eliana Marinari, Valerie Dutoit, Sergey Nikolaev, Maria-Isabel Vargas, Karl Schaller, Johannes Alexander Lobrinus, Pierre-Yves Dietrich, Petros Tsantoulis, Denis Migliorini

  8. Scheffer, Ingrid E.

    1. Open Access
      Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder
      Kenneth A. Myers, Carla Marini, Gemma L. Carvill, Amy McTague, Julie Panetta, Chloe Stutterd, Thorsten Stanley, Samantha Marin, John Nguyen, Carmen Barba, Anna Rosati, Richard H. Scott, Heather C. Mefford, Renzo Guerrini, Ingrid E. Scheffer

  9. Schindler, Suzanne E.

    1. Open Access
      African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants
      Suzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris

  10. Schmitt-Mechelke, Thomas

    1. Open Access
      LBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations
      Menno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap

  11. Schober, Florian A.

    1. Open Access
      Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy
      Helene Bruhn, Kristin Samuelsson, Florian A. Schober, Martin Engvall, Nicole Lesko, Rolf Wibom, Inger Nennesmo, Javier Calvo-Garrido, Rayomand Press, Henrik Stranneheim, Christoph Freyer, Anna Wedell, Anna Wredenberg

  12. Schoser, Benedikt

    1. Open Access
      Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1
      Stephan Wenninger, Sarah A. Cumming, Kristina Gutschmidt, Kees Okkersen, Aura Cecilia Jimenez-Moreno, Ferroudja Daidj, Hanns Lochmüller, Fiona Hogarth, Hans Knoop, Guillaume Bassez, Darren G. Monckton, Baziel G.M. van Engelen, Benedikt Schoser

  13. Schot, Rachel

    1. Open Access
      Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia
      Daphne J. Smits, Rachel Schot, Martina Wilke, Marjon van Slegtenhorst, Marie Claire Y. de Wit, Marjolein H.G. Dremmen, William B. Dobyns, A. James Barkovich, Grazia M.S. Mancini

  14. Scott, Richard H.

    1. Open Access
      Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder
      Kenneth A. Myers, Carla Marini, Gemma L. Carvill, Amy McTague, Julie Panetta, Chloe Stutterd, Thorsten Stanley, Samantha Marin, John Nguyen, Carmen Barba, Anna Rosati, Richard H. Scott, Heather C. Mefford, Renzo Guerrini, Ingrid E. Scheffer

  15. Sferruzza, Giacomo

    1. Open Access
      U-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 Gene
      Giacomo Sferruzza, Andrea Del Bondio, Andrea Citterio, Paolo Vezzulli, Simone Guerrieri, Marta Radaelli, Filippo Martinelli Boneschi, Massimo Filippi, Francesca Maltecca, Maria Teresa Bassi, Marina Scarlato

  16. Shkedi-Rafid, Shiri

    1. Open Access
      Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin
      Adi Wilf-Yarkoni, Oded Shor, Avi Fellner, Mark Andrew Hellmann, Elon Pras, Hagit Yonath, Shiri Shkedi-Rafid, Lina Basel-Salmon, Lili Bazak, Ruth Eliahou, Lior Greenbaum, Hadas Stiebel-Kalish, Felix Benninger, Yael Goldberg

  17. Shor, Oded

    1. Open Access
      Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin
      Adi Wilf-Yarkoni, Oded Shor, Avi Fellner, Mark Andrew Hellmann, Elon Pras, Hagit Yonath, Shiri Shkedi-Rafid, Lina Basel-Salmon, Lili Bazak, Ruth Eliahou, Lior Greenbaum, Hadas Stiebel-Kalish, Felix Benninger, Yael Goldberg

  18. Shulman, Joshua M.

    1. Open Access
      Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes
      Isabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman

  19. Shulman, Lisa M.

    1. Open Access
      Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes
      Isabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman

  20. Singleton, Andrew B.

    1. Open Access
      Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes
      Isabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman

  21. Slaugenhaupt, Susan

    1. Open Access
      Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing
      Jose-Alberto Palma, Rachita Yadav, Dadi Gao, Lucy Norcliffe-Kaufmann, Susan Slaugenhaupt, Horacio Kaufmann

  22. Smith, Jennifer A.

    1. Open Access
      Cumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based Cohort
      Kelly M. Bakulski, Harita S. Vadari, Jessica D. Faul, Steven G. Heeringa, Sharon L.R. Kardia, Kenneth M. Langa, Jennifer A. Smith, Jennifer J. Manly, Colter M. Mitchell, Kelly S. Benke, Erin B. Ware

  23. Smits, Daphne J.

    1. Open Access
      Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia
      Daphne J. Smits, Rachel Schot, Martina Wilke, Marjon van Slegtenhorst, Marie Claire Y. de Wit, Marjolein H.G. Dremmen, William B. Dobyns, A. James Barkovich, Grazia M.S. Mancini

  24. Stanley, Thorsten

    1. Open Access
      Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder
      Kenneth A. Myers, Carla Marini, Gemma L. Carvill, Amy McTague, Julie Panetta, Chloe Stutterd, Thorsten Stanley, Samantha Marin, John Nguyen, Carmen Barba, Anna Rosati, Richard H. Scott, Heather C. Mefford, Renzo Guerrini, Ingrid E. Scheffer

  25. Stellingwerff, Menno D.

    1. Open Access
      LBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations
      Menno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap

  26. Stiebel-Kalish, Hadas

    1. Open Access
      Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin
      Adi Wilf-Yarkoni, Oded Shor, Avi Fellner, Mark Andrew Hellmann, Elon Pras, Hagit Yonath, Shiri Shkedi-Rafid, Lina Basel-Salmon, Lili Bazak, Ruth Eliahou, Lior Greenbaum, Hadas Stiebel-Kalish, Felix Benninger, Yael Goldberg

  27. Stillwell, Amanda

    1. Open Access
      Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes
      Isabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman

  28. Stranneheim, Henrik

    1. Open Access
      Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy
      Helene Bruhn, Kristin Samuelsson, Florian A. Schober, Martin Engvall, Nicole Lesko, Rolf Wibom, Inger Nennesmo, Javier Calvo-Garrido, Rayomand Press, Henrik Stranneheim, Christoph Freyer, Anna Wedell, Anna Wredenberg

  29. Stutterd, Chloe

    1. Open Access
      Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder
      Kenneth A. Myers, Carla Marini, Gemma L. Carvill, Amy McTague, Julie Panetta, Chloe Stutterd, Thorsten Stanley, Samantha Marin, John Nguyen, Carmen Barba, Anna Rosati, Richard H. Scott, Heather C. Mefford, Renzo Guerrini, Ingrid E. Scheffer

  30. Stutterd, Chloe A.

    1. Open Access
      LBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations
      Menno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap

  31. Suárez-Calvet, Marc

    1. Open Access
      Race and Alzheimer Disease BiomarkersA Neglected Race
      Alberto Lleó, Marc Suárez-Calvet

  32. Sweadner, Kathleen J.

    1. Open Access
      Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global Populations
      Kyoko Hoshino, Kathleen J. Sweadner, Toshitaka Kawarai, Jonas Alex Saute, Joel Freitas, Joana Damásio, Karina C. Donis, Kazue Kimura, Hideki Fukuda, Masaharu Hayashi, Tetsuya Higuchi, Yoshio Ikeda, Laurie J. Ozelius, Ryuji Kaji

T

  1. Tabrizi, Sarah J.

    1. Open Access
      Expanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide Expansions
      Carlos Estevez-Fraga, Francesca Magrinelli, Davina Hensman Moss, Eoin Mulroy, Giulia Di Lazzaro, Anna Latorre, Melissa Mackenzie, Henry Houlden, Sarah J. Tabrizi, Kailash P. Bhatia

  2. Tan, Manuela

    1. Open Access
      Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes
      Isabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman

  3. Teunissen, Mariel W.A.

    1. Open Access
      Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital PorencephalyA Case Report
      Mariel W.A. Teunissen, Erik-Jan Kamsteeg, Suzanne C.E.H. Sallevelt, Maartje Pennings, Noel J.C. Bauer, R. Jeroen Vermeulen, Joost Nicolai

  4. Topaloglu, Pinar

    1. Open Access
      LBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations
      Menno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap

  5. Treidler, Simona

    1. Open Access
      Erythromelalgia: A Child With V400M Mutation in the SCN9A Gene
      Chineze Nwebube, Sabrina Bulancea, Adrian Marchidann, Lourdes Bello-Espinosa, Simona Treidler

  6. Tsantoulis, Petros

    1. Open Access
      Clonal Evolution of a High-Grade Pediatric Glioma With Distant Metastatic Spread
      Eliana Marinari, Valerie Dutoit, Sergey Nikolaev, Maria-Isabel Vargas, Karl Schaller, Johannes Alexander Lobrinus, Pierre-Yves Dietrich, Petros Tsantoulis, Denis Migliorini

V

  1. Vadari, Harita S.

    1. Open Access
      Cumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based Cohort
      Kelly M. Bakulski, Harita S. Vadari, Jessica D. Faul, Steven G. Heeringa, Sharon L.R. Kardia, Kenneth M. Langa, Jennifer A. Smith, Jennifer J. Manly, Colter M. Mitchell, Kelly S. Benke, Erin B. Ware

  2. Van der Knaap, Marjo S.

    1. Open Access
      LBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations
      Menno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap

  3. van der Plas, Ellen

    1. Open Access
      Neurocognitive Features of Motor Premanifest Individuals With Myotonic Dystrophy Type 1
      Ellen van der Plas, Timothy R. Koscik, Vincent Magnotta, Sarah A. Cumming, Darren Monckton, Laurie Gutmann, Peggy Nopoulos

  4. van Engelen, Baziel G.M.

    1. Open Access
      Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1
      Stephan Wenninger, Sarah A. Cumming, Kristina Gutschmidt, Kees Okkersen, Aura Cecilia Jimenez-Moreno, Ferroudja Daidj, Hanns Lochmüller, Fiona Hogarth, Hans Knoop, Guillaume Bassez, Darren G. Monckton, Baziel G.M. van Engelen, Benedikt Schoser

  5. van Slegtenhorst, Marjon

    1. Open Access
      Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia
      Daphne J. Smits, Rachel Schot, Martina Wilke, Marjon van Slegtenhorst, Marie Claire Y. de Wit, Marjolein H.G. Dremmen, William B. Dobyns, A. James Barkovich, Grazia M.S. Mancini

  6. Vargas, Maria-Isabel

    1. Open Access
      Clonal Evolution of a High-Grade Pediatric Glioma With Distant Metastatic Spread
      Eliana Marinari, Valerie Dutoit, Sergey Nikolaev, Maria-Isabel Vargas, Karl Schaller, Johannes Alexander Lobrinus, Pierre-Yves Dietrich, Petros Tsantoulis, Denis Migliorini

  7. Vasco, Gessica

    1. Open Access
      LBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations
      Menno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap

  8. Vermeulen, R. Jeroen

    1. Open Access
      Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital PorencephalyA Case Report
      Mariel W.A. Teunissen, Erik-Jan Kamsteeg, Suzanne C.E.H. Sallevelt, Maartje Pennings, Noel J.C. Bauer, R. Jeroen Vermeulen, Joost Nicolai

  9. Vezzulli, Paolo

    1. Open Access
      U-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 Gene
      Giacomo Sferruzza, Andrea Del Bondio, Andrea Citterio, Paolo Vezzulli, Simone Guerrieri, Marta Radaelli, Filippo Martinelli Boneschi, Massimo Filippi, Francesca Maltecca, Maria Teresa Bassi, Marina Scarlato

  10. von Coelln, Rainer

    1. Open Access
      Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes
      Isabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman

W

  1. Ware, Erin B.

    1. Open Access
      Cumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based Cohort
      Kelly M. Bakulski, Harita S. Vadari, Jessica D. Faul, Steven G. Heeringa, Sharon L.R. Kardia, Kenneth M. Langa, Jennifer A. Smith, Jennifer J. Manly, Colter M. Mitchell, Kelly S. Benke, Erin B. Ware

  2. Wedell, Anna

    1. Open Access
      Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy
      Helene Bruhn, Kristin Samuelsson, Florian A. Schober, Martin Engvall, Nicole Lesko, Rolf Wibom, Inger Nennesmo, Javier Calvo-Garrido, Rayomand Press, Henrik Stranneheim, Christoph Freyer, Anna Wedell, Anna Wredenberg

  3. Wenninger, Stephan

    1. Open Access
      Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1
      Stephan Wenninger, Sarah A. Cumming, Kristina Gutschmidt, Kees Okkersen, Aura Cecilia Jimenez-Moreno, Ferroudja Daidj, Hanns Lochmüller, Fiona Hogarth, Hans Knoop, Guillaume Bassez, Darren G. Monckton, Baziel G.M. van Engelen, Benedikt Schoser

  4. Wibom, Rolf

    1. Open Access
      Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy
      Helene Bruhn, Kristin Samuelsson, Florian A. Schober, Martin Engvall, Nicole Lesko, Rolf Wibom, Inger Nennesmo, Javier Calvo-Garrido, Rayomand Press, Henrik Stranneheim, Christoph Freyer, Anna Wedell, Anna Wredenberg

  5. Wilf-Yarkoni, Adi

    1. Open Access
      Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin
      Adi Wilf-Yarkoni, Oded Shor, Avi Fellner, Mark Andrew Hellmann, Elon Pras, Hagit Yonath, Shiri Shkedi-Rafid, Lina Basel-Salmon, Lili Bazak, Ruth Eliahou, Lior Greenbaum, Hadas Stiebel-Kalish, Felix Benninger, Yael Goldberg

  6. Wilke, Martina

    1. Open Access
      Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia
      Daphne J. Smits, Rachel Schot, Martina Wilke, Marjon van Slegtenhorst, Marie Claire Y. de Wit, Marjolein H.G. Dremmen, William B. Dobyns, A. James Barkovich, Grazia M.S. Mancini

  7. Wilkins, Consuelo H.

    1. Open Access
      African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants
      Suzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris

  8. Wredenberg, Anna

    1. Open Access
      Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy
      Helene Bruhn, Kristin Samuelsson, Florian A. Schober, Martin Engvall, Nicole Lesko, Rolf Wibom, Inger Nennesmo, Javier Calvo-Garrido, Rayomand Press, Henrik Stranneheim, Christoph Freyer, Anna Wedell, Anna Wredenberg

X

  1. Xiong, Chengjie

    1. Open Access
      African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants
      Suzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris

Y

  1. Yadav, Rachita

    1. Open Access
      Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing
      Jose-Alberto Palma, Rachita Yadav, Dadi Gao, Lucy Norcliffe-Kaufmann, Susan Slaugenhaupt, Horacio Kaufmann

  2. Yonath, Hagit

    1. Open Access
      Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin
      Adi Wilf-Yarkoni, Oded Shor, Avi Fellner, Mark Andrew Hellmann, Elon Pras, Hagit Yonath, Shiri Shkedi-Rafid, Lina Basel-Salmon, Lili Bazak, Ruth Eliahou, Lior Greenbaum, Hadas Stiebel-Kalish, Felix Benninger, Yael Goldberg

  3. Young, Emily

    1. Open Access
      Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes
      Isabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman

Z

  1. Zand, Ramin

    1. Open Access
      Polygenic Risk Scores Augment Stroke Subtyping
      Jiang Li, Durgesh P. Chaudhary, Ayesha Khan, Christoph Griessenauer, David J. Carey, Ramin Zand, Vida Abedi
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Neurology Genetics: 7 (2)
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