Neurology Genetics | A peer-reviewed clinical and translational neurology open access journal

Notable This Week

February 2019; 5(1) Selected by Stefan M. Pulst, MD, Dr med, Editor

HELIX | 2018 Review

2018: Year in Review and Message from the Editors to Our Reviewers

ARTICLE | Multiple Sclerosis

Gene variants of adhesion molecules predispose to MS: A case-control study

ARTICLE |Metabolic Disorders

Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy

CLINICAL/SCIENTIFIC NOTE |Amyotrophic Lateral Sclerosis

Variable reporting of C9orf72 and a high rate of uncertain results in ALS genetic testing

View Table of Contents

Latest Articles

Article
Somatic expansion of the C9orf72 hexanucleotide repeat does not occur in ALS spinal cord tissues
Jay P. Ross, Claire S. Leblond, Hélène Catoire, et al.

March 20, 2019
Editorial
Unraveling the genetic complexity of Alzheimer disease with Mendelian Randomization
Sara Bandres-Ciga, Faraz Faghri

March 07, 2019
Article
Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis
Jose Velilla, Michael Mario Marchetti, Agnes Toth-Petroczy, et al.

March 07, 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
Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G
Angela J. Lee, Karra A. Jones, Russell J. Butterfield, et al.

March 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

Advances in Neurologic Care*
New Post
Both diagnosis and treatment of epilepsy pose huge issues in interpretation of “big data” sources
by Jacqueline French, MD
View Site
Advances in Global Neurology
New Post
Integrating Mental Healthcare Services could Narrow the Epilepsy Treatment Gap
Gretchen L. Birbeck, MD, MPH
View Site

Call for Authors

Submit your work to Neurology: Genetics!