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Results: 1-15 |
Results: 15
A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2
Authors: Holmes, SE O'Hearn, E Rosenblatt, A Callahan, C Hwang, HS Ingersoll-Ashworth, RG Fleisher, A Stevanin, G Brice, A Potter, NT Ross, CA Margolis, RL
Citation: Se. Holmes et al., A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2, NAT GENET, 29(4), 2001, pp. 377-378
Similarities between spinocerebellar ataxia type 7 (SCA7) cell models and human brain: proteins recruited in inclusions and activation of caspase-3
Authors: Zander, C Takahashi, J El Hachimi, KH Fujigasaki, H Albanese, V Lebre, AS Stevanin, G Duyckaerts, C Brice, A
Citation: C. Zander et al., Similarities between spinocerebellar ataxia type 7 (SCA7) cell models and human brain: proteins recruited in inclusions and activation of caspase-3, HUM MOL GEN, 10(22), 2001, pp. 2569-2579
CAG repeat expansion in the TATA box-binding protein gene causes autosomaldominant cerebellar ataxia
Authors: Fujigasaki, H Martin, JJ De Deyn, PP Camuzat, A Deffond, D Stevanin, G Dermaut, B Van Broeckhoven, C Durr, A Brice, A
Citation: H. Fujigasaki et al., CAG repeat expansion in the TATA box-binding protein gene causes autosomaldominant cerebellar ataxia, BRAIN, 124, 2001, pp. 1939-1947
Ancestral origins of the Machado-Joseph disease mutation: A worldwide haplotype study
Authors: Gaspar, C Lopes-Cendes, I Hayes, S Goto, J Arvidsson, K Dias, A Silveira, I Maciel, P Coutinho, P Lima, M Zhou, YX Soong, BW Watanabe, M Giunti, P Stevanin, G Riess, O Sasaki, H Hsieh, M Nicholson, GA Brunt, E Higgins, JJ Lauritzen, M Tranebjaerg, L Volpini, V Wood, N Ranum, L Tsuji, S Brice, A Sequeiros, J Rouleau, GA
Citation: C. Gaspar et al., Ancestral origins of the Machado-Joseph disease mutation: A worldwide haplotype study, AM J HU GEN, 68(2), 2001, pp. 523-528
Are (CTG)(n) expansions at the SCA8 locus rare polymorphisms?
Authors: Stevanin, G Herman, A Durr, A Jodice, C Frontali, M Agid, Y Brice, A
Citation: G. Stevanin et al., Are (CTG)(n) expansions at the SCA8 locus rare polymorphisms?, NAT GENET, 24(3), 2000, pp. 213-213
Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology
Authors: Stevanin, G Durr, A Brice, A
Citation: G. Stevanin et al., Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology, EUR J HUM G, 8(1), 2000, pp. 4-18
Clinical and genetic study of familial essential tremor in an isolate of Northern Tajikistan
Authors: Illarioshkin, SN Ivanova-Smolenskaya, IA Rahmonov, RA Markova, ED Stevanin, G Brice, A
Citation: Sn. Illarioshkin et al., Clinical and genetic study of familial essential tremor in an isolate of Northern Tajikistan, MOVEMENT D, 15(5), 2000, pp. 1020-1023
No evidence for long CAG/CTG repeats in families with spastic paraplegia linked to chromosome 2p21-24
Authors: Zander, C Yuan, QP Lindblad, K Stevanin, G Durr, A Davoine, CS Hazan, J Fontaine, B Brice, A Schalling, M
Citation: C. Zander et al., No evidence for long CAG/CTG repeats in families with spastic paraplegia linked to chromosome 2p21-24, NEUROSCI L, 279(1), 2000, pp. 41-44
Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation
Authors: Herman-Bert, A Stevanin, G Netter, JC Rascol, O Brassat, D Calvas, P Camuzat, A Yuan, QP Schalling, M Durr, A Brice, A
Citation: A. Herman-bert et al., Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation, AM J HU GEN, 67(1), 2000, pp. 229-235
Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism (G(3145)TG/A(3145)TG)
Authors: Stevanin, G David, G Durr, A Giunti, P Benomar, A Abada-Bendib, M Lee, MS Agid, Y Brice, A
Citation: G. Stevanin et al., Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism (G(3145)TG/A(3145)TG), EUR J HUM G, 7(8), 1999, pp. 889-896
French Machado-Joseph disease patients do not exhibit gametic segregation distortion: a sperm typing analysis
Authors: Grewal, RP Cancel, G Leeflang, EP Durr, A McPeek, MS Draghinas, D Yao, X Stevanin, G Alnot, MO Brice, A Arnheim, N
Citation: Rp. Grewal et al., French Machado-Joseph disease patients do not exhibit gametic segregation distortion: a sperm typing analysis, HUM MOL GEN, 8(9), 1999, pp. 1779-1784
Clinical and MRI findings in spinocerebellar ataxia type 5
Authors: Stevanin, G Herman, A Brice, A Durr, A
Citation: G. Stevanin et al., Clinical and MRI findings in spinocerebellar ataxia type 5, NEUROLOGY, 53(6), 1999, pp. 1355-1357
Spinocerebellar ataxia type 6: Evidence for a strong founder effect among German families
Authors: Dichgans, M Schols, L Herzog, J Stevanin, G Weirich-Schwaiger, H Rouleau, G Burk, K Klockgether, T Zuhlke, C Laccone, F Riess, O Gasser, T
Citation: M. Dichgans et al., Spinocerebellar ataxia type 6: Evidence for a strong founder effect among German families, NEUROLOGY, 52(4), 1999, pp. 849-851
Linkage disequilibrium at the SCA2 locus
Authors: Didierjean, O Cancel, G Stevanin, G Durr, A Burk, K Benomar, A Lezin, A Belal, S Abada-Bendid, M Klockgether, T Brice, A
Citation: O. Didierjean et al., Linkage disequilibrium at the SCA2 locus, J MED GENET, 36(5), 1999, pp. 415-417
Molecular and clinical study of 18 families with ADCA type II: Evidence for genetic heterogeneity and De Novo mutation
Authors: Giunti, P Stevanin, G Worth, PF David, G Brice, A Wood, NW
Citation: P. Giunti et al., Molecular and clinical study of 18 families with ADCA type II: Evidence for genetic heterogeneity and De Novo mutation, AM J HU GEN, 64(6), 1999, pp. 1594-1603
Risultati: 1-15 |