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

Announcements

Dr. José G. Merino

New Editor-in-Chief of Neurology in April 2020

Most Read Article

Clinical and experimental studies of a novel P525R FUS mutation in amyotrophic lateral sclerosis

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Notable This Week

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

ARTICLE | Next-Generation Sequencing

Congenital myopathies in the adult neuromuscular clinic Diagnostic challenges and pitfalls

ARTICLE | Spinal Muscular Atrophy

Impaired kidney structure and function in spinal muscular atrophy

ARTICLE |Spinocerebellar Ataxia

A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an ELOVL4 mutation

ARTICLE |Dystonia

Epidemiology of DYT1 dystonia

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Latest Articles

Clinical/Scientific Notes
Further supporting evidence for REEP1 phenotypic and allelic heterogeneity
Reza Maroofian, Mahdiyeh Behnam, Rauan Kaiyrzhanov, et al.

November 15, 2019
Article
Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism
Stéphane Roche, Camille Dion, Natacha Broucqsault, et al.

November 14, 2019
Article
Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS
Maria-Del-Mar Amador, François Muratet, Elisa Teyssou, et al.

November 13, 2019
Clinical/Scientific Notes
Galloping tongue syndrome in a PRRT2 mutation carrier
Dolores Vilas, Anna Marcé-Grau, Alfons Macaya, et al.

November 12, 2019
Article
Identification of TYW3/CRYZ and FGD4 as susceptibility genes for amyotrophic lateral sclerosis
Ling Wei, Yanghua Tian, Yongping Chen, et al.

November 08, 2019
Clinical/Scientific Notes
Myelopathy in a patient with leukodystrophy due to CSF1R mutation
Victoria M. Ho, Dominic A. Hovsepian, Perry B. Shieh

November 08, 2019

Advances in Neurologic Care*
New Post
Outcome Measures for Premanifest Alzheimer Disease Trials
By Albin Rogers, MD and Vikas Kotagal, MD, MS
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Advances in Global Neurology
New Post
Death follows disabilities--Insights from Kenya highlight the vulnerability of neurologically impaired children
Gretchen L. Birbeck, MD, MPH
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