Latest Articles

Subject

Clinical/Scientific Notes
GLRA1 mutation and long-term follow-up of the first hyperekplexia family
Martin Paucar, Josefine Waldthaler, Per Svenningsson

August 07, 2018
Article
Impaired transmissibility of atypical prions from genetic CJD^G114V
Ignazio Cali, Fadi Mikhail, Kefeng Qin, et al.

August 07, 2018
Article
Axon reflex–mediated vasodilation is reduced in proportion to disease severity in TTR-FAP
Irène Calero-Romero, Marc R. Suter, Bernard Waeber, et al.

August 03, 2018
Clinical/Scientific Notes
De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity
Emma Ladds, Andrea Whitney, Eszter Dombi, et al.

August 03, 2018
Article
Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23)
Guido Zagnoli-Vieira, Francesco Bruni, Kyle Thompson, et al.

August 01, 2018
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

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