Most cited article(s)

Article
KCNQ2 encephalopathyFeatures, mutational hot spots, and ezogabine treatment of 11 patients
John J. Millichap, Kristen L. Park, Tammy Tsuchida, et al.

August 22, 2016
Article
CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease
Mari Auranen, Emil Ylikallio, Maria Shcherbii, et al.

April 14, 2015
Article
The Clinical Outcome Study for dysferlinopathyAn international multicenter study
Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, et al.

August 04, 2016
Article
Mendelian randomization shows a causal effect of low vitamin D on multiple sclerosis risk
Brooke Rhead, Maria Bäärnhielm, Milena Gianfrancesco, et al.

September 13, 2016
Views & Reviews
Redefining the phenotype of ALSP and AARS2 mutation–related leukodystrophy
Rahul Lakshmanan, Matthew E. Adams, David S. Lynch, et al.

February 15, 2017
Article
Phenotypic and molecular analyses of primary lateral sclerosis
Hiroshi Mitsumoto, Peter L. Nagy, Chris Gennings, et al.

April 16, 2015
Clinical/Scientific Notes
A novel DYNC1H1 mutation causing spinal muscular atrophy with lower extremity predominance
Qi Niu, Xingxia Wang, Mingchao Shi, et al.

July 16, 2015
Article
Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood
David Lewis-Smith, Kimberli J. Kamer, Helen Griffin, et al.

March 03, 2016
Article
Analysis of rare copy number variation in absence epilepsies
Laura Addis, Richard E. Rosch, Antonio Valentin, et al.

March 22, 2016
Article
Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy
Jeremy M. Sullivan, Christina M. Zimanyi, William Aisenberg, et al.

October 22, 2015

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