Latest Articles

Subject

Editorial
These violent repeats have violent extends
Julien Couthouis, Aaron D. Gitler

August 01, 2018
Article
Population genealogy resource shows evidence of familial clustering for Alzheimer disease
Lisa Anne Cannon-Albright, Sue Dintelman, Tim Maness, et al.

August 01, 2018
Article
Noncoding repeat expansions for ALS in Japan are associated with the ATXN8OS gene
Makito Hirano, Makoto Samukawa, Chiharu Isono, et al.

August 01, 2018
Article
Association study between multiple system atrophy and TREM2 p.R47H
Kotaro Ogaki, Michael G. Heckman, Shunsuke Koga, et al.

August 01, 2018
Clinical/Scientific Notes
Case of late-onset Sandhoff disease due to a novel mutation in the HEXB gene
Angela R. Sung, Paolo Moretti, Aziz Shaibani

July 30, 2018
Article
ASFMR1 splice variantA predictor of fragile X-associated tremor/ataxia syndrome
Padmaja Vittal, Shrikant Pandya, Kevin Sharp, et al.

July 30, 2018
Clinical/Scientific Notes
Novel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34)
Pierre R. Bourque, Jodi Warman-Chardon, Daniel A. Lelli, et al.

July 26, 2018
Article
Longitudinal analysis of contrast acuity in Friedreich ataxia
Ali G. Hamedani, Lauren A. Hauser, Susan Perlman, et al.

July 23, 2018
Clinical/Scientific Notes
Independent NF1 mutations underlie café-au-lait macule development in a woman with segmental NF1
Morgan E. Freret, Corina Anastasaki, David H. Gutmann

July 23, 2018
Article
Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy
Carola Hedberg-Oldfors, Christopher Lindberg, Anders Oldfors

July 23, 2018

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