The Helix
- Open Access2018: Year in Review and Message from the Editors to Our ReviewersStefan M. Pulst, Raymond P. Roos, Alexandra Durr, Jeffery M. Vance, Margherita Milone, Massimo Pandolfo
Articles
- Open AccessGene variants of adhesion molecules predispose to MS: A case-control studyEfthimios Dardiotis, Elena Panayiotou, Vasileios Siokas, Athina-Maria Aloizou, Kyproula Christodoulou, Andreas Hadjisavvas, Marios Pantzaris, Nikolaos Grigoriadis, Georgios M. Hadjigeorgiou, Theodoros Kyriakides
- Open AccessGenomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophyBruce Nmezi, Elisa Giorgio, Raili Raininko, Anna Lehman, Malte Spielmann, Mary Kay Koenig, Rahmat Adejumo, Melissa Knight, Ralitza Gavrilova, Murad Alturkustani, Manas Sharma, Robert Hammond, William A. Gahl, Camilo Toro, Alfredo Brusco, Quasar S. Padiath
- Open AccessCopy number variation of LINGO1 in familial dystonic tremorVafa Alakbarzade, Thomas Iype, Barry A. Chioza, Royana Singh, Gaurav V. Harlalka, Holly Hardy, Ajith Sreekantan-Nair, Christos Proukakis, Kathryn Peall, Lorraine N. Clark, Richard Caswell, Hana Lango Allen, Matthew Wakeling, John K. Chilton, Emma L. Baple, Elan D. Louis, Thomas T. Warner, Andrew H. Crosby
- Open AccessGNE genotype explains 20% of phenotypic variability in GNE myopathyOksana Pogoryelova, Ian J. Wilson, Hank Mansbach, Zohar Argov, Ichizo Nishino, Hanns Lochmüller
Clinical/Scientific Notes
- Open AccessVariable reporting of C9orf72 and a high rate of uncertain results in ALS genetic testingHolly Klepek, Stephen A. Goutman, Adam Quick, Stephen J. Kolb, Jennifer Roggenbuck
- Open AccessPUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathyAnderson Rodrigues Brandão de Paiva, David S. Lynch, Uirá Souto Melo, Leandro Tavares Lucato, Fernando Freua, Bruno Della Ripa de Assis, Isabella Barcelos, Clarice Listik, Diego de Castro dos Santos, Lúcia Inês Macedo-Souza, Henry Houlden, Fernando Kok
Views & Reviews
- Open AccessGenotype-structure-phenotype relationships diverge in paralogs ATP1A1, ATP1A2, and ATP1A3Kathleen J. Sweadner, Elena Arystarkhova, John T. Penniston, Kathryn J. Swoboda, Allison Brashear, Laurie J. Ozelius
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