Spinocerebellar ataxia type 3/Machado-Joseph disease starting before adolescence
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10048-016-0473-5.pdf
Reference27 articles.
1. Takiyama Y, Nishizawa M, Tanaka H, Kawashima S, Sakamoto H, Karube Y et al (1993) The gene for Machado-Joseph disease maps to human chromosome 14q. Nat Genet 4(3):300–304
2. Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S et al (1994) CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 8(3):221–228
3. Saute JAM, Jardim LB (2015) Machado Joseph disease: clinical and genetic aspects, and current treatment. Expert Opin Orphan Drugs 3:517–535
4. Jardim LB, Pereira ML, Silveira I et al (2001) Neurologic findings in Machado-Joseph disease: relation with disease duration, subtypes, and (CAG)n. Arch Neurol 58:899–904
5. Carvalho DR, La Rocque-Ferreira A, Rizzo IM et al (2008) Homozygosity enhances severity in spinocerebellar ataxia type 3. Pediatr Neurol 38:296–299
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