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
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
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
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
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
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
Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy
Rikke S. Møller, Sarah Weckhuysen, Mathilde Chipaux, et al.

October 31, 2016
Article
Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation
Imen Dorboz, Hélene Dumay-Odelot, Karima Boussaid, et al.

December 03, 2018

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