Research Articles
- Open AccessCWH43 Variants Are Associated With Disease Risk and Clinical Phenotypic Measures in Patients With Normal Pressure HydrocephalusPhilip W. Tipton, Merve Atik, Alexandra I. Soto-Beasley, Gregory S. Day, Sanjeet S. Grewal, Kaisorn Chaichana, Olga P. Fermo, Colleen T. Ball, Michael G. Heckman, Launia J. White, Zachary S. Quicksall, Joseph S. Reddy, Vijay K. Ramanan, Prashanthi Vemuri, Benjamin D. Elder, Nilufer Ertekin-Taner, Owen Ross, Neill Graff-Radford
- Open AccessLAMA2-Related Muscular Dystrophy Across the Life SpanA Cross-sectional StudyKarlijn Bouman, Jan T. Groothuis, Jonne Doorduin, Nens van Alfen, Floris E.A. Udink ten Cate, Frederik M.A. van den Heuvel, Robin Nijveldt, Erik-Jan Kamsteeg, Anne T.M. Dittrich, Jos M.T. Draaisma, Mirian C.H. Janssen, Baziel G.M. van Engelen, Corrie E. Erasmus, Nicol C. Voermans
- Genomic Diagnoses for Ectopic Intracerebral CalcificationsChangrui Xiao, Thomas Cassini, Daniel Benavides, Anusha Ebrahim, David Adams, Camilo Toro
- Open AccessImprovement of an External Predictive Model Based on New Information Using a Synthetic Data ApproachApplication to CADASILHenri Chhoa, Hugues Chabriat, Adelina Joanita Anato, Mamadou Bamba, Florent Zittoun, Sylvie Chevret, Lucie Biard
- Open AccessGenome-wide Analysis of Motor Progression in Parkinson DiseaseAlejandro Martínez Carrasco, Raquel Real, Michael Lawton, Regina Hertfelder Reynolds, Manuela Tan, Lesley Wu, Nigel Williams, Camille Carroll, Jean-Christophe Corvol, Michele Hu, Donald Grosset, John Hardy, Mina Ryten, Yoav Ben-Shlomo, Maryam Shoai, Huw R. Morris
- Open AccessClinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem ProteinopathyMarianela Schiava, Chiseko Ikenaga, Ana Topf, Marta Caballero-Ávila, Tsui-Fen Chou, Shan Li, Feng Wang, Jil Daw, Tanya Stojkovic, Rocio Villar-Quiles, Ichizo Nishino, Michio Inoue, Yukako Nishimori, Yoshihiko Saito, Masahisa Katsuno, Seiya Noda, Chihiro Ito, Mieko Otsuka, Sruthi Nahir, Georgios Manousakis, David Walk, Colin Quinn, Lindsay Alfano, Zarife Sahenk, Giorgio Tasca, Mauro Monforte, Mario Sabatelli, Giulia Bisogni, Anders Oldfors, Anna Rydeliu, Endre Pal, Carmen Paradas, Beatriz Velez, Jan L. De Bleecker, Maria Elena Farugia, Cheryl Longman, Matthew B. Harms, Stuart Ralston, Edmar Zanoteli, Andre Macedo Serafim da Silva, Javier Sotoca, Raul Juntas-Morales, Jorge Bevilacqua, Mireya Balart, Stuart Talbot, Volker Straub, Michela Guglieri, Chiara Marini-Bettolo, Jordi Diaz-Manera, Conrad Chris Weihl
- Open AccessBiallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian DysfunctionJodi Warman-Chardon, Taila Hartley, Aren Elizabeth Marshall, Arran McBride, Madeline Couse, William Macdonald, Mellissa R.W. Mann, Pierre R. Bourque, Ari Breiner, Hanns Lochmüller, John Woulfe, Marcos Loreto Sampaio, Gerd Melkus, Bernard Brais, David A. Dyment, Kym M. Boycott, Kristin Kernohan
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Clinical/Scientific Note
- Open AccessFull-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2AAndrew B. Stergachis, Elizabeth E. Blue, Madelyn A. Gillentine, Lee-Kai Wang, Ulrike Schwarze, Adriana Sedeño Cortés, Jane Ranchalis, Aimee Allworth, Austin E. Bland, Sirisak Chanprasert, Jingheng Chen, Daniel Doherty, Andrew B. Folta, Ian Glass, Martha Horike-Pyne, Alden Y. Huang, Alyna T. Khan, Kathleen A. Leppig, Danny E. Miller, Ghayda Mirzaa, Azma Parhin, Wendy H. Raskind, Elisabeth A. Rosenthal, Sam Sheppeard, Samuel Strohbehn, Virginia P. Sybert, Thao T. Tran, Mark H. Wener, for University of Washington Center for Mendelian Genomics (UW-CMG), and Undiagnosed Diseases Network (UDN),, Peter H. H. Byers, Stanley F. Nelson, Michael J. Bamshad, Katrina M. Dipple, Gail P. Jarvik, Suzanne Hoppins, Fuki M. Hisama
- Open AccessFrequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar AtaxiaLuiz Eduardo Novis, Rodrigo S. Frezatti, David Pellerin, Pedro J. Tomaselli, Shahryar Alavi, Marcus Vinícius Della Coleta, Mariana Spitz, Marie-Josée Dicaire, Pablo Iruzubieta, José Luiz Pedroso, Orlando Barsottini, Andrea Cortese, Matt C. Danzi, Marcondes C. França, Bernard Brais, Stephan Zuchner, Henry Houlden, Salmo Raskin, Wilson Marques, Helio A. Teive
- Open AccessCerebral Aneurysms and Recurrent TIAs in a 42-Year-Old Patient With DADA2 MutationA Case ReportNetta Agajany, Liran Horev, Netanel Agajany, Gilad Kenan
- Open AccessA Case of Multiple Intracranial Major Artery Stenoses With Coexisting PCSK9 p.E32K and RNF213 p.R4810K VariantsKotaro Noda, Yorito Hattori, Mika Hori, Mariko Harada-Shiba, Masafumi Ihara
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