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

Notable This Week

April 2019; 5(2) Selected by Stefan M. Pulst, MD, Dr med, Editor

ARTICLE | Alzheimer Disease

Genomic variation in educational attainment modifies Alzheimer disease risk

ARTICLE | Neuromuscular Disorders

Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis

ARTICLE |Muscular Dystrophy

Lithium chloride corrects weakness and myopathology in a preclinical model of LGMD1D

ARTICLE |Muscular Dystrophy

Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES

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Latest Articles

Article
Oligogenic basis of sporadic ALSThe example of SOD1 p.Ala90Val mutation
Liina Kuuluvainen, Karri Kaivola, Saana Mönkäre, et al.

April 23, 2019
Article
Novel pathogenic XK mutations in McLeod syndrome and interaction between XK protein and chorein
Yuka Urata, Masayuki Nakamura, Natsuki Sasaki, et al.

April 22, 2019
Article
HTT haplogroups in Finnish patients with Huntington disease
Susanna Ylönen, Jussi O.T. Sipilä, Marja Hietala, et al.

April 22, 2019
Clinical/Scientific Notes
Double somatic mosaicism in a child with Dravet syndrome
Alison M. Muir, Chontelle King, Amy L. Schneider, et al.

April 19, 2019
Article
Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
Chong Sun, Jie Song, Yanjun Jiang, et al.

April 19, 2019
Article
Lithium chloride corrects weakness and myopathology in a preclinical model of LGMD1D
Andrew R. Findlay, Rocio Bengoechea, Sara K. Pittman, et al.

April 19, 2019

Advances in Neurologic Care*
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Advances in Global Neurology
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Gretchen L. Birbeck, MD, MPH
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