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2. Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease. Maruyama H; Nakamura S; Matsuyama Z; Sakai T; Doyu M; Sobue G; Seto M; Tsujihata M; Oh-i T; Nishio T Hum Mol Genet; 1995 May; 4(5):807-12. PubMed ID: 7633439 [TBL] [Abstract][Full Text] [Related]
3. Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease. Matilla T; McCall A; Subramony SH; Zoghbi HY Ann Neurol; 1995 Jul; 38(1):68-72. PubMed ID: 7611728 [TBL] [Abstract][Full Text] [Related]
4. Progressive atrophy of cerebellum and brainstem as a function of age and the size of the expanded CAG repeats in the MJD1 gene in Machado-Joseph disease. Onodera O; Idezuka J; Igarashi S; Takiyama Y; Endo K; Takano H; Oyake M; Tanaka H; Inuzuka T; Hayashi T; Yuasa T; Ito J; Miyatake T; Tsuji S Ann Neurol; 1998 Mar; 43(3):288-96. PubMed ID: 9506544 [TBL] [Abstract][Full Text] [Related]
5. Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features. Dürr A; Stevanin G; Cancel G; Duyckaerts C; Abbas N; Didierjean O; Chneiweiss H; Benomar A; Lyon-Caen O; Julien J; Serdaru M; Penet C; Agid Y; Brice A Ann Neurol; 1996 Apr; 39(4):490-9. PubMed ID: 8619527 [TBL] [Abstract][Full Text] [Related]
6. Dopa-responsive parkinsonism phenotype of Machado-Joseph disease: confirmation of 14q CAG expansion. Tuite PJ; Rogaeva EA; St George-Hyslop PH; Lang AE Ann Neurol; 1995 Oct; 38(4):684-7. PubMed ID: 7574470 [TBL] [Abstract][Full Text] [Related]
7. [Linkage disequilibrium between the Machado-Joseph disease and intragenic polymorphisms]. Ichikawa Y Nihon Rinsho; 1999 Apr; 57(4):832-7. PubMed ID: 10222775 [TBL] [Abstract][Full Text] [Related]
8. 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. Takiyama Y; Igarashi S; Rogaeva EA; Endo K; Rogaev EI; Tanaka H; Sherrington R; Sanpei K; Liang Y; Saito M Hum Mol Genet; 1995 Jul; 4(7):1137-46. PubMed ID: 8528200 [TBL] [Abstract][Full Text] [Related]
9. [Clinical and molecular genetic studies of Machado-Joseph disease]. Nishizawa M Nihon Rinsho; 1999 Apr; 57(4):826-31. PubMed ID: 10222774 [TBL] [Abstract][Full Text] [Related]
10. Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease. Lopes-Cendes I; Maciel P; Kish S; Gaspar C; Robitaille Y; Clark HB; Koeppen AH; Nance M; Schut L; Silveira I; Coutinho P; Sequeiros J; Rouleau GA Ann Neurol; 1996 Aug; 40(2):199-206. PubMed ID: 8773601 [TBL] [Abstract][Full Text] [Related]
11. Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3/Machado-Joseph disease. Cancel G; Gourfinkel-An I; Stevanin G; Didierjean O; Abbas N; Hirsch E; Agid Y; Brice A Hum Mutat; 1998; 11(1):23-7. PubMed ID: 9450899 [TBL] [Abstract][Full Text] [Related]
12. CAG repeat expansion of Machado-Joseph disease in the Japanese: analysis of the repeat instability for parental transmission, and correlation with disease phenotype. Sasaki H; Wakisaka A; Fukazawa T; Iwabuchi K; Hamada T; Takada A; Mukai E; Matsuura T; Yoshiki T; Tashiro K J Neurol Sci; 1995 Nov; 133(1-2):128-33. PubMed ID: 8583215 [TBL] [Abstract][Full Text] [Related]
13. Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia. Ranum LP; Lundgren JK; Schut LJ; Ahrens MJ; Perlman S; Aita J; Bird TD; Gomez C; Orr HT Am J Hum Genet; 1995 Sep; 57(3):603-8. PubMed ID: 7668288 [TBL] [Abstract][Full Text] [Related]
14. Machado-Joseph disease: correlation between the clinical features, the CAG repeat length and homozygosity for the mutation. Lerer I; Merims D; Abeliovich D; Zlotogora J; Gadoth N Eur J Hum Genet; 1996; 4(1):3-7. PubMed ID: 8800925 [TBL] [Abstract][Full Text] [Related]
15. Machado-Joseph disease in east Arnhem Land, Australia: chromosome 14q32.1 expanded repeat confirmed in four families. Burt T; Currie B; Kilburn C; Lethlean AK; Dempsey K; Blair I; Cohen A; Nicholson G Neurology; 1996 Apr; 46(4):1118-22. PubMed ID: 8780102 [TBL] [Abstract][Full Text] [Related]
17. Machado-Joseph disease: clinical, molecular, and metabolic characterization in Chinese kindreds. Soong B; Cheng C; Liu R; Shan D Ann Neurol; 1997 Apr; 41(4):446-52. PubMed ID: 9124801 [TBL] [Abstract][Full Text] [Related]
18. A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease. DeStefano AL; Cupples LA; Maciel P; Gaspar C; Radvany J; Dawson DM; Sudarsky L; Corwin L; Coutinho P; MacLeod P Am J Hum Genet; 1996 Jul; 59(1):119-27. PubMed ID: 8659514 [TBL] [Abstract][Full Text] [Related]
19. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Kawaguchi Y; Okamoto T; Taniwaki M; Aizawa M; Inoue M; Katayama S; Kawakami H; Nakamura S; Nishimura M; Akiguchi I Nat Genet; 1994 Nov; 8(3):221-8. PubMed ID: 7874163 [TBL] [Abstract][Full Text] [Related]
20. Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients. Schöls L; Vieira-Saecker AM; Schöls S; Przuntek H; Epplen JT; Riess O Hum Mol Genet; 1995 Jun; 4(6):1001-5. PubMed ID: 7655453 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]