Latest Articles

Subject

Article
Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
Chong Sun, Jie Song, Yanjun Jiang, et al.

April 19, 2019
Article
Lithium chloride corrects weakness and myopathology in a preclinical model of LGMD1D
Andrew R. Findlay, Rocio Bengoechea, Sara K. Pittman, et al.

April 19, 2019
Clinical/Scientific Notes
A novel cathepsin D mutation in 2 siblings with late infantile neuronal ceroid lipofuscinosis
Jineesh Thottath, Shamsudheen Karuthedath Vellarikkal, Rijith Jayarajan, et al.

April 11, 2019
Clinical/Scientific Notes
First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness
Chiara La Morgia, Leonardo Caporali, Francesca Tagliavini, et al.

April 08, 2019
Abstracts
Proceedings of the 23rd International Stroke Genetics Consortium Workshop: Kyoto, Japan
Yoichiro Kamatani, Stéphanie Debette

April 08, 2019
Abstracts
Proceedings of the 24th International Stroke Genetics Consortium Workshop: Washington, DC, USA
Paul A. Nyquist, John W. Cole

April 08, 2019
Article
Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
Willem De Ridder, Isabelle Nelson, Bob Asselbergh, et al.

April 01, 2019
Views and Reviews
Antisense oligonucleotidesA primer
Daniel R. Scoles, Eric V. Minikel, Stefan M. Pulst

April 01, 2019
Article
Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy
Alejandro Horga, Enrico Bugiardini, Andreea Manole, et al.

April 01, 2019
Article
Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ
Ilona Kalasova, Hana Hanzlikova, Neerja Gupta, et al.

March 25, 2019

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