Most read article(s)

Views & Reviews
Genotype-structure-phenotype relationships diverge in paralogs ATP1A1, ATP1A2, and ATP1A3
Kathleen J. Sweadner, Elena Arystarkhova, John T. Penniston, et al.

February 04, 2019
Article
Disease-modifying effects of an SCAF4 structural variant in a predominantly SOD1 ALS cohort
Julia Pytte, Loren L. Flynn, Ryan S. Anderton, et al.

July 01, 2020
Article
Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation
Imen Dorboz, Hélene Dumay-Odelot, Karima Boussaid, et al.

December 03, 2018
Clinical/Scientific Notes
Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing
Martin Krenn, Ivan Milenkovic, Gertrud Eckstein, et al.

June 25, 2019
Article
Genotyping single nucleotide polymorphisms for allele-selective therapy in Huntington disease
Daniel O. Claassen, Jody Corey-Bloom, E. Ray Dorsey, et al.

May 14, 2020
Article
Cerebellar ataxia, neuropathy, hearing loss, and intellectual disability due to AIFM1 mutation
Massimo Pandolfo, Myriam Rai, Gauthier Remiche, et al.

April 09, 2020
Clinical/Scientific Notes
GLUT1 deficiencyRetinal detrimental effects of gliovascular modulation
Matt Henry, John Kitchens, Juan M. Pascual, et al.

June 25, 2020
Article
SLC12A2 mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia
Tommy Stödberg, Måns Magnusson, Nicole Lesko, et al.

July 02, 2020
Views and Reviews
Antisense oligonucleotidesA primer
Daniel R. Scoles, Eric V. Minikel, Stefan M. Pulst

April 01, 2019
Article
Polygenic risk scores of several subtypes of epilepsies in a founder population
Claudia Moreau, Rose-Marie Rébillard, Stefan Wolking, et al.

March 27, 2020

Pages