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405 related items for PubMed ID: 9403480
21. 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 [Abstract] [Full Text] [Related]
22. Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6). Matsuyama Z, Kawakami H, Maruyama H, Izumi Y, Komure O, Udaka F, Kameyama M, Nishio T, Kuroda Y, Nishimura M, Nakamura S. Hum Mol Genet; 1997 Aug; 6(8):1283-7. PubMed ID: 9259274 [Abstract] [Full Text] [Related]
23. Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset. Pulst SM, Santos N, Wang D, Yang H, Huynh D, Velazquez L, Figueroa KP. Brain; 2005 Oct; 128(Pt 10):2297-303. PubMed ID: 16000334 [Abstract] [Full Text] [Related]
24. Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. Gomez CM, Thompson RM, Gammack JT, Perlman SL, Dobyns WB, Truwit CL, Zee DS, Clark HB, Anderson JH. Ann Neurol; 1997 Dec; 42(6):933-50. PubMed ID: 9403487 [Abstract] [Full Text] [Related]
25. Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds. Schöls L, Krüger R, Amoiridis G, Przuntek H, Epplen JT, Riess O. J Neurol Neurosurg Psychiatry; 1998 Jan; 64(1):67-73. PubMed ID: 9436730 [Abstract] [Full Text] [Related]
26. An autopsy case of spinocerebellar ataxia type 6 with mental symptoms of schizophrenia and dementia. Tashiro H, Suzuki SO, Hitotsumatsu T, Iwaki T. Clin Neuropathol; 1999 Jan; 18(4):198-204. PubMed ID: 10442462 [Abstract] [Full Text] [Related]
27. [Molecular basis of heterogeneities of clinical presentation of dentatorubral pallidoluysian atrophy (DRPLA)]. Tsuji S. Rinsho Shinkeigaku; 1994 Dec; 34(12):1227-9. PubMed ID: 7774119 [Abstract] [Full Text] [Related]
28. Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat. Ikeuchi T, Koide R, Tanaka H, Onodera O, Igarashi S, Takahashi H, Kondo R, Ishikawa A, Tomoda A, Miike T. Ann Neurol; 1995 Jun; 37(6):769-75. PubMed ID: 7778850 [Abstract] [Full Text] [Related]
29. Meiotic CAG repeat instability in spinocerebellar ataxia type 6: maternally transmitted elongation in a presumed sporadic case. Lindquist SG, Nørremølle A, Hjermind LE, Hasholt L, Nielsen JE. J Neurol Sci; 2006 Feb 15; 241(1-2):95-8. PubMed ID: 16310805 [Abstract] [Full Text] [Related]
30. Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes? Schöls L, Amoiridis G, Büttner T, Przuntek H, Epplen JT, Riess O. Ann Neurol; 1997 Dec 15; 42(6):924-32. PubMed ID: 9403486 [Abstract] [Full Text] [Related]
31. [SCA1, SCA2, MJD/SCA3 (CAG)n mutation detection and analysis in patients with hereditary spinocerebellar ataxia from Chinese families]. Tang B, Wang D, Xia J. Zhonghua Yi Xue Za Zhi; 1997 Nov 15; 77(11):819-22. PubMed ID: 9772474 [Abstract] [Full Text] [Related]
33. Spinocerebellar ataxia type 6. Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion. Matsumura R, Futamura N, Fujimoto Y, Yanagimoto S, Horikawa H, Suzumura A, Takayanagi T. Neurology; 1997 Nov 15; 49(5):1238-43. PubMed ID: 9371900 [Abstract] [Full Text] [Related]
34. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC. Nat Genet; 1997 Jan 15; 15(1):62-9. PubMed ID: 8988170 [Abstract] [Full Text] [Related]
35. Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: clinical and molecular correlations. Dubourg O, Dürr A, Cancel G, Stevanin G, Chneiweiss H, Penet C, Agid Y, Brice A. Ann Neurol; 1995 Feb 15; 37(2):176-80. PubMed ID: 7847859 [Abstract] [Full Text] [Related]
36. Dentatorubral-pallidoluysian atrophy (DRPLA). Molecular basis for wide clinical features of DRPLA. Ikeuchi T, Koide R, Onodera O, Tanaka H, Oyake M, Takano H, Tsuji S. Clin Neurosci; 1995 Feb 15; 3(1):23-7. PubMed ID: 7614090 [Abstract] [Full Text] [Related]
37. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Sanpei K, Takano H, Igarashi S, Sato T, Oyake M, Sasaki H, Wakisaka A, Tashiro K, Ishida Y, Ikeuchi T, Koide R, Saito M, Sato A, Tanaka T, Hanyu S, Takiyama Y, Nishizawa M, Shimizu N, Nomura Y, Segawa M, Iwabuchi K, Eguchi I, Tanaka H, Takahashi H, Tsuji S. Nat Genet; 1996 Nov 15; 14(3):277-84. PubMed ID: 8896556 [Abstract] [Full Text] [Related]
38. Genetics of the SCA6 gene in a large family segregating an autosomal dominant "pure" cerebellar ataxia. García-Planells J, Cuesta A, Vilchez JJ, Martínez F, Prieto F, Palau F. J Med Genet; 1999 Feb 15; 36(2):148-51. PubMed ID: 10051016 [Abstract] [Full Text] [Related]
39. Mendelian segregation of normal CAG trinucleotide repeat alleles at three autosomal loci. MacMillan JC, Voisey J, Healey SC, Martin NG. J Med Genet; 1999 Mar 15; 36(3):258-9. PubMed ID: 10204858 [Abstract] [Full Text] [Related]
40. [An apparently sporadic case with spinocerebellar ataxia type 1 (SCA1)]. Futamura N, Matsumura R, Murata K, Suzumura A, Takayanagi T. Rinsho Shinkeigaku; 1997 Aug 15; 37(8):708-10. PubMed ID: 9404150 [Abstract] [Full Text] [Related] Page: [Previous] [Next] [New Search]