Most read article(s)

Article
Clinical and experimental studies of a novel P525R FUS mutation in amyotrophic lateral sclerosis
Lisha Kuang, Marisa Kamelgarn, Alexandra Arenas, et al.

July 20, 2017
Views & Reviews
Genotype-structure-phenotype relationships diverge in paralogs ATP1A1, ATP1A2, and ATP1A3
Kathleen J. Sweadner, Elena Arystarkhova, John T. Penniston, et al.

February 04, 2019
Article
Gene variants of adhesion molecules predispose to MS: A case-control study
Efthimios Dardiotis, Elena Panayiotou, Vasileios Siokas, et al.

January 16, 2019
Clinical/Scientific Notes
Mitochondrial cerebellar ataxia, renal failure, neuropathy, and encephalopathy (MCARNE)
Peng Soon Ng, Marcus V. Pinto, Jadee L. Neff, et al.

March 06, 2019
Article
Copy number loss in SFMBT1 is common among Finnish and Norwegian patients with iNPH
Ville E. Korhonen, Seppo Helisalmi, Aleksi Jokinen, et al.

December 03, 2018
Article
Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation
Imen Dorboz, Hélene Dumay-Odelot, Karima Boussaid, et al.

December 03, 2018
Article
Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A
Maureen A. Mealy, Tai-Seung Nam, Santiago J. Pardo, et al.

January 30, 2018
Editorial
The complex structure of ATXN2 genetic variation
Stefan M. Pulst

December 06, 2018
Article
GNE genotype explains 20% of phenotypic variability in GNE myopathy
Oksana Pogoryelova, Ian J. Wilson, Hank Mansbach, et al.

February 01, 2019
The Helix
2018: Year in Review and Message from the Editors to Our Reviewers
Stefan M. Pulst, Raymond P. Roos, Alexandra Durr, et al.

February 14, 2019

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