Most read article(s)

Article
A gain-of-function mutation in the GRIK2 gene causes neurodevelopmental deficits
Yomayra F. Guzmán, Keri Ramsey, Jacob R. Stolz, et al.

January 31, 2017
Article
Copy number loss in SFMBT1 is common among Finnish and Norwegian patients with iNPH
Ville E. Korhonen, Seppo Helisalmi, Aleksi Jokinen, et al.

December 03, 2018
Views and Reviews
Antisense oligonucleotidesA primer
Daniel R. Scoles, Eric V. Minikel, Stefan M. Pulst

April 01, 2019
Article
Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype
Nataly I. Montes-Chinea, Zhuo Guan, Marcella Coutts, et al.

October 22, 2018
Article
Next-generation sequencing approach to hyperCKemiaA 2-year cohort study
Anna Rubegni, Alessandro Malandrini, Claudia Dosi, et al.

August 16, 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
Epidemiology of DYT1 dystoniaEstimating prevalence via genetic ascertainment
Joseph Park, Scott M. Damrauer, Aris Baras, et al.

September 13, 2019
Article
Critical exon indexing improves clinical interpretation of copy number variants in neurodevelopmental disorders
E. Robert Wassman, Karen S. Ho, Diana Bertrand, et al.

December 06, 2019
Article
Clinical and experimental studies of a novel P525R FUS mutation in amyotrophic lateral sclerosis
Lisha Kuang, Marisa Kamelgarn, Alexandra Arenas, et al.

July 20, 2017
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

Pages