Latest Articles

Subject

Article
Novel pathogenic XK mutations in McLeod syndrome and interaction between XK protein and chorein
Yuka Urata, Masayuki Nakamura, Natsuki Sasaki, et al.

April 22, 2019
Article
HTT haplogroups in Finnish patients with Huntington disease
Susanna Ylönen, Jussi O.T. Sipilä, Marja Hietala, et al.

April 22, 2019
Clinical/Scientific Notes
Double somatic mosaicism in a child with Dravet syndrome
Alison M. Muir, Chontelle King, Amy L. Schneider, et al.

April 19, 2019
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
Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy
Alejandro Horga, Enrico Bugiardini, Andreea Manole, et al.

April 01, 2019

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