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338 related items for PubMed ID: 8559377

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  • 6. 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
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  • 7. Spinocerebellar ataxia, type 3 (SCA3) is genetically identical to Machado-Joseph disease (MJD).
    Haberhausen G, Damian MS, Leweke F, Müller U.
    J Neurol Sci; 1995 Sep; 132(1):71-5. PubMed ID: 8523034
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  • 8. Mutation detection in Machado-Joseph disease using repeat expansion detection.
    Lindblad K, Lunkes A, Maciel P, Stevanin G, Zander C, Klockgether T, Ratzlaff T, Brice A, Rouleau GA, Hudson T, Auburger G, Schalling M.
    Mol Med; 1996 Jan; 2(1):77-85. PubMed ID: 8900536
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  • 9. Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients.
    Silveira I, Lopes-Cendes I, Kish S, Maciel P, Gaspar C, Coutinho P, Botez MI, Teive H, Arruda W, Steiner CE, Pinto-Júnior W, Maciel JA, Jerin S, Sack G, Andermann E, Sudarsky L, Rosenberg R, MacLeod P, Chitayat D, Babul R, Sequeiros J, Rouleau GA.
    Neurology; 1996 Jan; 46(1):214-8. PubMed ID: 8559378
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  • 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
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  • 11. Correlation between CAG repeat length and clinical features in Machado-Joseph disease.
    Maciel P, Gaspar C, DeStefano AL, Silveira I, Coutinho P, Radvany J, Dawson DM, Sudarsky L, Guimarães J, Loureiro JE.
    Am J Hum Genet; 1995 Jul; 57(1):54-61. PubMed ID: 7611296
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  • 12. 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
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  • 13. Sequence variation and size ranges of CAG repeats in the Machado-Joseph disease, spinocerebellar ataxia type 1 and androgen receptor genes.
    Rubinsztein DC, Leggo J, Coetzee GA, Irvine RA, Buckley M, Ferguson-Smith MA.
    Hum Mol Genet; 1995 Sep; 4(9):1585-90. PubMed ID: 8541843
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  • 14. Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients.
    Lopes-Cendes I, Teive HG, Calcagnotto ME, Da Costa JC, Cardoso F, Viana E, Maciel JA, Radvany J, Arruda WO, Trevisol-Bittencourt PC, Rosa Neto P, Silveira I, Steiner CE, Pinto Júnior W, Santos AS, Correa Neto Y, Werneck LC, Araújo AQ, Carakushansky G, Mello LR, Jardim LB, Rouleau GA.
    Arq Neuropsiquiatr; 1997 Sep; 55(3B):519-29. PubMed ID: 9629399
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  • 15. Machado Joseph-Disease Is Rare in the Peruvian Population.
    Cornejo-Olivas M, Solis-Ponce L, Araujo-Aliaga I, Milla-Neyra K, Ortega O, Illanes-Manrique M, Mazzetti P, Manrique-Enciso C, Cubas-Montecino D, Saraiva-Pereira ML, Jardim LB, Sarapura-Castro E.
    Cerebellum; 2023 Dec; 22(6):1192-1199. PubMed ID: 36323979
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  • 16. Machado Joseph disease is not an allele of the spinocerebellar ataxia 2 locus.
    Twist EC, Farrer LA, Macleod PM, Radvany J, Chamberlain S, Rosenberg RN, Rouleau GA.
    Hum Genet; 1994 Mar; 93(3):335-8. PubMed ID: 8125487
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  • 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
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  • 18. Expanded CAG repeats in spinocerebellar ataxia (SCA1) segregate with distinct haplotypes in South african families.
    Ramesar RS, Bardien S, Beighton P, Bryer A.
    Hum Genet; 1997 Jul; 100(1):131-7. PubMed ID: 9225982
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  • 19. Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus.
    Twist EC, Casaubon LK, Ruttledge MH, Rao VS, Macleod PM, Radvany J, Zhao Z, Rosenberg RN, Farrer LA, Rouleau GA.
    J Med Genet; 1995 Jan; 32(1):25-31. PubMed ID: 7897622
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  • 20. An expanded CAG repeat sequence in spinocerebellar ataxia type 7.
    Lindblad K, Savontaus ML, Stevanin G, Holmberg M, Digre K, Zander C, Ehrsson H, David G, Benomar A, Nikoskelainen E, Trottier Y, Holmgren G, Ptacek LJ, Anttinen A, Brice A, Schalling M.
    Genome Res; 1996 Oct; 6(10):965-71. PubMed ID: 8908515
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