Huntington disease-like 2 (HDL2) in Venezuela: frequency and ethnic origin
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/jhg2012111.pdf
Reference25 articles.
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2. Holmes, S. E., O’Hearn, E., Rosenblatt, A., Callahan, C., Hwang, H. S., Ingersoll-Ashworth, R. G. et al. A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. Nat. Genet. 29, 377–378 (2001).
3. Kambouris, M., Bohega, S., Al-Tahan, A. & Meyer, B. F. Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3. Am. J. Hum. Genet. 66, 445–452 (2000).
4. Rolfs, A., Koeppen, A., Bauer, I., Bauer, P., Buhlmann, S., Topka, H. et al. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann. Neurol. 54, 367–375 (2003).
5. Schneider, A., Walker, R. & Bhatia, K. The Huntington’s disease-like syndromes: what to consider in patients with a negative Huntington’s disease gene test. Nat. Clin. Pract. Neurol. 3, 517–525 (2007).
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