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Literature DB >> 8421964

Epidemiology and clinical aspects of Machado-Joseph disease.

J Sequeiros¹, P Coutinho.

Abstract

Entities: Disease

Mesh：

Year: 1993 PMID： 8421964

Source DB: PubMed Journal: Adv Neurol ISSN： 0091-3952

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46 in total

Review 1. Toward understanding Machado-Joseph disease.

Authors: Maria do Carmo Costa; Henry L Paulson
Journal: Prog Neurobiol Date: 2011-11-23 Impact factor: 11.685

2. A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease.

Authors: A L DeStefano; L A Cupples; P Maciel; C Gaspar; J Radvany; D M Dawson; L Sudarsky; L Corwin; P Coutinho; P MacLeod
Journal: Am J Hum Genet Date: 1996-07 Impact factor: 11.025

3. Consensus paper: the cerebellum's role in movement and cognition.

Authors: Leonard F Koziol; Deborah Budding; Nancy Andreasen; Stefano D'Arrigo; Sara Bulgheroni; Hiroshi Imamizu; Masao Ito; Mario Manto; Cherie Marvel; Krystal Parker; Giovanni Pezzulo; Narender Ramnani; Daria Riva; Jeremy Schmahmann; Larry Vandervert; Tadashi Yamazaki
Journal: Cerebellum Date: 2014-02 Impact factor: 3.847

4. Choosing not to know: accounts of non-engagement with pre-symptomatic testing for Machado-Joseph disease.

Authors: Álvaro Mendes; Milena Paneque; Angus Clarke; Jorge Sequeiros
Journal: Eur J Hum Genet Date: 2018-12-20 Impact factor: 4.246

Review 5. Machado-Joseph disease/spinocerebellar ataxia type 3.

Authors: Henry Paulson
Journal: Handb Clin Neurol Date: 2012

6. Linkage disequilibrium between the spinocerebellar ataxia 3/Machado-Joseph disease mutation and two intragenic polymorphisms, one of which, X359Y, affects the stop codon.

Authors: G Stevanin; A S Lebre; C Mathieux; G Cancel; N Abbas; O Didierjean; A Dürr; Y Trottier; Y Agid; A Brice
Journal: Am J Hum Genet Date: 1997-06 Impact factor: 11.025

Epidemiology and clinical aspects of Machado-Joseph disease.

Review 1. Toward understanding Machado-Joseph disease.

2. A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease.

3. Consensus paper: the cerebellum's role in movement and cognition.

4. Choosing not to know: accounts of non-engagement with pre-symptomatic testing for Machado-Joseph disease.

Review 5. Machado-Joseph disease/spinocerebellar ataxia type 3.

6. Linkage disequilibrium between the spinocerebellar ataxia 3/Machado-Joseph disease mutation and two intragenic polymorphisms, one of which, X359Y, affects the stop codon.

7. Relations between genotype and phenotype in German patients with the Machado-Joseph disease mutation.

8. High frequency of Machado-Joseph disease identified in southeastern Chinese kindreds with spinocerebellar ataxia.

Review 9. Polyglutamine spinocerebellar ataxias - from genes to potential treatments.

10. Nucleocytoplasmic shuttling activity of ataxin-3.