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
Clinical/Scientific Notes
The Alzheimer's Disease Sequencing Project: Study design and sample selection
Gary W. Beecham, J.C. Bis, E.R. Martin, et al.

October 13, 2017
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
Article
CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease
Mari Auranen, Emil Ylikallio, Maria Shcherbii, et al.

April 14, 2015
Clinical/Scientific Notes
GBA p.T369M substitution in Parkinson disease: Polymorphism or association? A meta-analysis
Victoria Mallett, Jay P. Ross, Roy N. Alcalay, et al.

September 08, 2016
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
The Clinical Outcome Study for dysferlinopathyAn international multicenter study
Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, et al.

August 04, 2016
Article
Genetic risk of Parkinson disease and progression:An analysis of 13 longitudinal cohorts
Hirotaka Iwaki, Cornelis Blauwendraat, Hampton L. Leonard, et al.

July 09, 2019
Article
Late-onset Alzheimer disease risk variants mark brain regulatory loci
Mariet Allen, Michaela Kachadoorian, Minerva M. Carrasquillo, et al.

July 23, 2015
Article
GNAO1 encephalopathyBroadening the phenotype and evaluating treatment and outcome
Federica Rachele Danti, Serena Galosi, Marta Romani, et al.

March 21, 2017

Pages