Latest Articles

Subject

Abstracts
Proceedings of the 21st International Stroke Genetics Consortium Workshop
M. Fornage

May 01, 2018
Clinical/Scientific Notes
Expanding the global prevalence of spinocerebellar ataxia type 42
Kathie Ngo, Mamdouh Aker, Lauren E. Petty, et al.

April 05, 2018
Clinical/Scientific Notes
WDR45 mutations may cause a MECP2 mutation-negative Rett syndrome phenotype
Leonora Kulikovskaja, Adrijan Sarajlija, Dusanka Savic-Pavicevic, et al.

March 27, 2018
Article
Ataxia-telangiectasiaA new remitting form with a peculiar transcriptome signature
Vincenzo Leuzzi, Daniela D'Agnano, Michele Menotta, et al.

March 27, 2018
Article
Diagnostic odyssey of patients with mitochondrial diseaseResults of a survey
Johnston Grier, Michio Hirano, Amel Karaa, et al.

March 26, 2018
Article
Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies
Claire G. Salter, Danique Beijer, Holly Hardy, et al.

March 23, 2018
Clinical/Scientific Notes
Twenty-year-old African American woman with prion disease associated with the G114V PRNP variant
Jason Margolesky, Mario Saporta

March 22, 2018
Clinical/Scientific Notes
Mutation in the GCH1 gene with dopa-responsive dystonia and phenotypic variability
Elsa Krim, Jerome Aupy, Fabienne Clot, et al.

March 22, 2018
Article
Rare ABCA7 variants in 2 German families with Alzheimer disease
Patrick May, Sabrina Pichler, Daniela Hartl, et al.

March 21, 2018
Article
ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia
Christian G. Bouwkamp, Zaid Afawi, Aviva Fattal-Valevski, et al.

March 21, 2018

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