Full text
PDFImages in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Cancel G., Abbas N., Stevanin G., Dürr A., Chneiweiss H., Néri C., Duyckaerts C., Penet C., Cann H. M., Agid Y. Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus. Am J Hum Genet. 1995 Oct;57(4):809–816. [PMC free article] [PubMed] [Google Scholar]
- Dürr A., Brice A. Genetics of movement disorders. Curr Opin Neurol. 1996 Aug;9(4):290–297. doi: 10.1097/00019052-199608000-00009. [DOI] [PubMed] [Google Scholar]
- Dürr A., Stevanin G., Cancel G., Duyckaerts C., Abbas N., Didierjean O., Chneiweiss H., Benomar A., Lyon-Caen O., Julien J. Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features. Ann Neurol. 1996 Apr;39(4):490–499. doi: 10.1002/ana.410390411. [DOI] [PubMed] [Google Scholar]
- Endo K., Sasaki H., Wakisaka A., Tanaka H., Saito M., Igarashi S., Takiyama Y., Sanpei K., Iwabuchi K., Suzuki Y. Strong linkage disequilibrium and haplotype analysis in Japanese pedigrees with Machado-Joseph disease. Am J Med Genet. 1996 Sep 20;67(5):437–444. doi: 10.1002/(SICI)1096-8628(19960920)67:5<437::AID-AJMG1>3.0.CO;2-H. [DOI] [PubMed] [Google Scholar]
- Gaspar C., Lopes-Cendes I., DeStefano A. L., Maciel P., Silveira I., Coutinho P., MacLeod P., Sequeiros J., Farrer L. A., Rouleau G. A. Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins. Hum Genet. 1996 Nov;98(5):620–624. doi: 10.1007/s004390050270. [DOI] [PubMed] [Google Scholar]
- Goldberg-Stern H., D'jaldetti R., Melamed E., Gadoth N. Machado-Joseph (Azorean) disease in a Yemenite Jewish family in Israel. Neurology. 1994 Jul;44(7):1298–1301. doi: 10.1212/wnl.44.7.1298. [DOI] [PubMed] [Google Scholar]
- Harding A. E. Clinical features and classification of inherited ataxias. Adv Neurol. 1993;61:1–14. [PubMed] [Google Scholar]
- Igarashi S., Takiyama Y., Cancel G., Rogaeva E. A., Sasaki H., Wakisaka A., Zhou Y. X., Takano H., Endo K., Sanpei K. Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat. Hum Mol Genet. 1996 Jul;5(7):923–932. doi: 10.1093/hmg/5.7.923. [DOI] [PubMed] [Google Scholar]
- Imbert G., Kretz C., Johnson K., Mandel J. L. Origin of the expansion mutation in myotonic dystrophy. Nat Genet. 1993 May;4(1):72–76. doi: 10.1038/ng0593-72. [DOI] [PubMed] [Google Scholar]
- Iughetti P., Zatz M., Bueno M. R., Marie S. K. Different origins of mutations at the Machado-Joseph locus (MJD1) J Med Genet. 1996 May;33(5):439–439. doi: 10.1136/jmg.33.5.439. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Kawaguchi Y., Okamoto T., Taniwaki M., Aizawa M., Inoue M., Katayama S., Kawakami H., Nakamura S., Nishimura M., Akiguchi I. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet. 1994 Nov;8(3):221–228. doi: 10.1038/ng1194-221. [DOI] [PubMed] [Google Scholar]
- Myers R. H., MacDonald M. E., Koroshetz W. J., Duyao M. P., Ambrose C. M., Taylor S. A., Barnes G., Srinidhi J., Lin C. S., Whaley W. L. De novo expansion of a (CAG)n repeat in sporadic Huntington's disease. Nat Genet. 1993 Oct;5(2):168–173. doi: 10.1038/ng1093-168. [DOI] [PubMed] [Google Scholar]
- Sequeiros J., Coutinho P. Epidemiology and clinical aspects of Machado-Joseph disease. Adv Neurol. 1993;61:139–153. [PubMed] [Google Scholar]
- Squitieri F., Andrew S. E., Goldberg Y. P., Kremer B., Spence N., Zeisler J., Nichol K., Theilmann J., Greenberg J., Goto J. DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence. Hum Mol Genet. 1994 Dec;3(12):2103–2114. doi: 10.1093/hmg/3.12.2103. [DOI] [PubMed] [Google Scholar]
- Stevanin G., Cancel G., Didierjean O., Dürr A., Abbas N., Cassa E., Feingold J., Agid Y., Brice A. Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation. Am J Hum Genet. 1995 Nov;57(5):1247–1250. [PMC free article] [PubMed] [Google Scholar]
- Stevanin G., Cassa E., Cancel G., Abbas N., Dürr A., Jardim E., Agid Y., Sousa P. S., Brice A. Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease. J Med Genet. 1995 Oct;32(10):827–830. doi: 10.1136/jmg.32.10.827. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Stevanin G., Le Guern E., Ravisé N., Chneiweiss H., Dürr A., Cancel G., Vignal A., Boch A. L., Ruberg M., Penet C. A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus. Am J Hum Genet. 1994 Jan;54(1):11–20. [PMC free article] [PubMed] [Google Scholar]
- Stevanin G., Sousa P. S., Cancel G., Dürr A., Dubourg O., Nicholson G. A., Weissenbach J., Jardim E., Agid Y., Cassa E. The gene for Machado-Joseph disease maps to the same 3-cM interval as the spinal cerebellar ataxia 3 gene on chromosome 14q. Neurobiol Dis. 1994 Nov;1(1-2):79–82. doi: 10.1006/nbdi.1994.0010. [DOI] [PubMed] [Google Scholar]
- Takiyama Y., Igarashi S., Rogaeva E. A., Endo K., Rogaev E. I., Tanaka H., Sherrington R., Sanpei K., Liang Y., Saito M. Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease. Hum Mol Genet. 1995 Jul;4(7):1137–1146. doi: 10.1093/hmg/4.7.1137. [DOI] [PubMed] [Google Scholar]
- Takiyama Y., Nishizawa M., Tanaka H., Kawashima S., Sakamoto H., Karube Y., Shimazaki H., Soutome M., Endo K., Ohta S. The gene for Machado-Joseph disease maps to human chromosome 14q. Nat Genet. 1993 Jul;4(3):300–304. doi: 10.1038/ng0793-300. [DOI] [PubMed] [Google Scholar]
- Trottier Y., Lutz Y., Stevanin G., Imbert G., Devys D., Cancel G., Saudou F., Weber C., David G., Tora L. Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature. 1995 Nov 23;378(6555):403–406. doi: 10.1038/378403a0. [DOI] [PubMed] [Google Scholar]