Mots-clés
 > MYOBASE > SANTE > médecine > maladie > maladie par appareil > maladie du système nerveux > maladie du système nerveux central > encéphalopathie > maladie cérébelleuse > ataxie cérébelleuse > ataxie cérébelleuse autosomique dominante > ataxie spinocérébelleuse > ataxie spinocérébelleuse autosomique dominante de type 3
ataxie spinocérébelleuse autosomique dominante de type 3Synonyme(s)Machado-Joseph disease ;maladie de Machado-Joseph ;MJD ;ASC3 ;ataxie spino-cérébelleuse autosomique dominante de type III ;dominant autosomal spino-cerebellar ataxia type III ;SCA3 autosomal dominant spinocerebellar ataxia type 3Voir aussi |
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The CAG-polyglutamine repeat diseases: a clinical, molecular, genetic, and pathophysiologic nosology
Stoyas CA, La Spada AR
Handbook of clinical neurology, 2018, 147, p 143
Nerve excitability testing and its clinical application to neuromuscular diseases
Nodera H, Kaji R
Clinical neurophysiology, 2006, 117, p. 1902-1916
RNA based gene therapy for dominantly inherited diseases
Pelletier R, Caron SOP, Puymirat J
Current gene therapy, 2006, 6, 1, p. 131-146
Allele-specific silencing of dominant disease genes
Miller VM, Xia H, Marrs GL, et al.
Proceedings of the national Academy of sciences of the United States of America, 2003, 100,12, p. 7195-7200
Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families
Silveira I, Coutinho P, Maciel P, et al.
American Journal of Medical Genetics, 1998, 81,2, p. 134-138
The complex pathology of trinucleotide repeats
Reedy PS, Housman DE
Current opinion in cell biology, 1997, 9, 3, p. 364-372
Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features
Durr A, Stevanin G, Cancel G, et al.
Annals of neurology, 1996, 39, 4, p 490
Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat
Igarashi S, Takiyama Y, Cancel G, et al.
Human molecular genetics, 1996, 5, 7, p 923
Repeat length and disease progression in spinocerebellar ataxia type 3
Lockgether T, Kramer B, Lüdtke R, et al.
Lancet (Ed. ang.), 1996, 348, p. 830
Maladies monogéniques et dysfonctions du système nerveux : progrès et perspectives
Mandel JL
médecine/sciences, 1996, 12, NSP, p. 100-108
Mutation detection in Machado-Joseph disease using repeat expansion detection
Lindblad K, Lunkes A, Maciel P, et al.
Molecular medicine, 1996, 2, 1, p 77
Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo
Ikeda H, Yamaguchi M, Sugai S, et al.
Nature genetics, 1996, 13, p. 219-222
Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus
Cancel G, Abbas N, Stevanin G, et al.
American journal of human genetics (The), 1995, 57, 4, p 809
Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation
Stevanin G, Cancel G, Didierjean O, et al.
American journal of human genetics (The), 1995, 57, 5, p 1247
Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease
Stevanin G, Cassa E, Cancel G, et al.
Journal of medical genetics, 1995, 32, 10, p 827
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias
Trottier Y, Lutz Y, Stevanin G, et al.
Nature, 1995, 378, 403-406, 6555 p.
Gender equality in Machado-Joseph disease
Durr A, Stevanin G, Cancel G, et al.
Nature genetics, 1995, 11, 2, p 118
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
Kawaguchi Y, Okamoto T, Taniwaki M, et al.
Nature genetics, 1994, 8, p. 221-227
