A Systematic Review of the Huntington Disease-Like 2 Phenotype-Reference-Cited by-同舟云学术

A Systematic Review of the Huntington Disease-Like 2 Phenotype

Published:2017-03-28 Issue:1 Volume:6 Page:37-46
ISSN:1879-6397
Container-title:Journal of Huntington's Disease
language:
Short-container-title:JHD

Author:

Anderson David G.¹²,Walker Ruth H.³⁴,Connor Myles⁵⁶,Carr Jonathan⁷,Margolis Russell L.⁸,Krause Amanda²

Affiliation:

1. The University of the Witwatersrand Donald Gordon Medical Centre, Neurology, Johannesburg, South Africa

2. Division of Human Genetics, National Health Laboratory Service & School of Pathology, The University of the Witwatersrand, Johannesburg, South Africa

3. Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, NY, USA

4. Department of Neurology, Mount Sinai School of Medicine, New York City, NY, USA

5. NHS Borders, United Kingdom; Centre for Clinical Brain Sciences, University of Edinburgh, UK

6. School of Public Health, University of the Witwatersrand, Johannesburg, South Africa

7. Department of Neurology, University of Stellenbosch, Cape Town, South Africa

8. Department of Psychiatry, Division of Neurobiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA

Publisher

IOS Press

Subject

Cellular and Molecular Neuroscience,Neurology (clinical)

Reference55 articles.

1. A disorder similar to Huntington’s disease is associated with a novel CAG repeat expansion;Margolis;Ann Neurol,2001

2. Huntington’s disease phenocopies are clinically and genetically heterogeneous;Wild;Mov Disord,2008

3. A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2;Holmes;Nat Genet,2001

4. Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype;Krause;Am J Med Genet B Neuropsychiatr Genet,2015

5. Junctophilins: A novel family of junctional membrane complex proteins;Takeshima;Mol Cell,2000

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