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Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion.
Del-Favero J, Krols L, Michalik A, Theuns J, Löfgren A, Goossens D, Wehnert A, Van den Bossche D, Van Zand K, Backhovens H, van Regenmorter N, Martin JJ, Van Broeckhoven C. Del-Favero J, et al. Among authors: lofgren a. Hum Mol Genet. 1998 Feb;7(2):177-86. doi: 10.1093/hmg/7.2.177. Hum Mol Genet. 1998. PMID: 9425224
Spinocerebellar ataxia type 7 (SCA7) - correlations between phenotype and genotype in one large Belgian family.
Martin J, Van Regemorter N, Del-Favero J, Löfgren A, Van Broeckhoven C. Martin J, et al. Among authors: lofgren a. J Neurol Sci. 1999 Sep 15;168(1):37-46. doi: 10.1016/s0022-510x(99)00176-8. J Neurol Sci. 1999. PMID: 10500272
The SCA7 gene was mapped to chromosome 3p12-13 [David G, Abbas N, Stevanin G, Durr A, Yvert G, Cancel G, et al. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 1997;17:65-70; Del-Favero J, Krols L, Michalik A, Theuns J, L
The SCA7 gene was mapped to chromosome 3p12-13 [David G, Abbas N, Stevanin G, Durr A, Yvert G, Cancel G, et al. Cloning of the SCA7 g …
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.
Nelis E, Van Broeckhoven C, De Jonghe P, Löfgren A, Vandenberghe A, Latour P, Le Guern E, Brice A, Mostacciuolo ML, Schiavon F, Palau F, Bort S, Upadhyaya M, Rocchi M, Archidiacono N, Mandich P, Bellone E, Silander K, Savontaus ML, Navon R, Goldberg-Stern H, Estivill X, Volpini V, Friedl W, Gal A, et al. Nelis E, et al. Among authors: lofgren a. Eur J Hum Genet. 1996;4(1):25-33. doi: 10.1159/000472166. Eur J Hum Genet. 1996. PMID: 8800924 Free article.
167 results