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

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Notable This Week

April 2020; 6(2) Selected by Stefan M. Pulst, MD, Dr med, Editor

ARTICLE | Ataxia

Heterozygous STUB1 missense variants cause ataxia, cognitive decline, and STUB1 mislocalization

ARTICLE |Alzheimer Disease

Use of local genetic ancestry to assess TOMM40-523′ and risk for Alzheimer disease

ARTICLE |Neuromuscular Disorders

Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders

ARTICLE |ALS

Association of a structural variant within the SQSTM1 gene with amyotrophic lateral sclerosis

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Latest Articles

Abstracts
Proceedings of the 26th International Stroke Genetics Consortium Workshop: St. Louis, MO
Jin-Moo Lee, Carlos Cruchaga

May 21, 2020
Abstracts
Proceedings of the 25th International Stroke Genetics Consortium Workshop: Cambridge, UK
Jemma C. Hopewell, Matthew Traylor, Hugh S. Markus

May 21, 2020
Article
Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort
Dona Aboud Syriani, Darice Wong, Sameer Andani, et al.

May 20, 2020
Article
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy
Majida Charif, Arnaud Chevrollier, Naïg Gueguen, et al.

May 20, 2020
Editorial
Intronic pentanucleotide expansion in the replication factor 1 gene (RFC1) is a major cause of adult-onset ataxia
Sylvia M. Boesch, Martha A. Nance

May 20, 2020
Clinical/Scientific Notes
Adult-onset leukoencephalopathy with homozygous LAMB1 missense mutation
Rei Yasuda, Tomokatsu Yoshida, Ikuko Mizuta, et al.

May 19, 2020

Advancing EDI Awareness
New Post
COVID-19: A grim reminder of my roots
Joshua Budhu, MD, MS
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Advances in Neurologic Care*
New Post
Together, apart: Effective communication in inpatient neurology during COVID-19
By Tarini Goyal, MD
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Advances in Global Neurology
New Post
When last we heard from Dr. Nightingale…
Gretchen L. Birbeck, MD, MPH
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