Editorial
Articles
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel 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
- Open AccessBiallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar HypoplasiaDaphne 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
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno 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
- Open AccessPolygenic Risk Scores Augment Stroke SubtypingJiang Li, Durgesh P. Chaudhary, Ayesha Khan, Christoph Griessenauer, David J. Carey, Ramin Zand, Vida Abedi
- Open AccessClonal Evolution of a High-Grade Pediatric Glioma With Distant Metastatic SpreadEliana Marinari, Valerie Dutoit, Sergey Nikolaev, Maria-Isabel Vargas, Karl Schaller, Johannes Alexander Lobrinus, Pierre-Yves Dietrich, Petros Tsantoulis, Denis Migliorini
- Open AccessInteractive Effects of HLA and GM Alleles on the Development of Alzheimer DiseaseJanardan P. Pandey, Paul J. Nietert, Ronald T. Kothera, Lisa L. Barnes, David A. Bennett
- Open AccessNovel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal PolyneuropathyHelene 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
- Open AccessBiallelic Variants in the COLGALT1 Gene Causes Severe Congenital PorencephalyA Case ReportMariel W.A. Teunissen, Erik-Jan Kamsteeg, Suzanne C.E.H. Sallevelt, Maartje Pennings, Noel J.C. Bauer, R. Jeroen Vermeulen, Joost Nicolai
- Open AccessExpanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome SequencingJose-Alberto Palma, Rachita Yadav, Dadi Gao, Lucy Norcliffe-Kaufmann, Susan Slaugenhaupt, Horacio Kaufmann
- Open AccessAssociations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1Stephan 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
- Open AccessAfrican Americans Have Differences in CSF Soluble TREM2 and Associated Genetic VariantsSuzanne 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
- Open AccessExpanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide ExpansionsCarlos Estevez-Fraga, Francesca Magrinelli, Davina Hensman Moss, Eoin Mulroy, Giulia Di Lazzaro, Anna Latorre, Melissa Mackenzie, Henry Houlden, Sarah J. Tabrizi, Kailash P. Bhatia
- Open AccessCumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based CohortKelly 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
- Open AccessMild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of WolframinAdi 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
- Open AccessPhenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental DisorderKenneth 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
- Open AccessNeurocognitive Features of Motor Premanifest Individuals With Myotonic Dystrophy Type 1Ellen van der Plas, Timothy R. Koscik, Vincent Magnotta, Sarah A. Cumming, Darren Monckton, Laurie Gutmann, Peggy Nopoulos
Clinical/Scientific Notes
- Open AccessRapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global PopulationsKyoko 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
- Open AccessPRPS1 Gene Mutation Causes Complex X-Linked Adult-Onset Cerebellar Ataxia in WomenFlávio M. Rezende Filho, Mariana M. Palma, José Luiz Pedroso, Orlando G. Barsottini, Juliana M. Sallum
- Open AccessErythromelalgia: A Child With V400M Mutation in the SCN9A GeneChineze Nwebube, Sabrina Bulancea, Adrian Marchidann, Lourdes Bello-Espinosa, Simona Treidler
- Open AccessU-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 GeneGiacomo Sferruzza, Andrea Del Bondio, Andrea Citterio, Paolo Vezzulli, Simone Guerrieri, Marta Radaelli, Filippo Martinelli Boneschi, Massimo Filippi, Francesca Maltecca, Maria Teresa Bassi, Marina Scarlato
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