Literature DB >> 6536725

Machado-Joseph disease in an American-Italian family.

I R Livingstone, J Sequeiros.   

Abstract

An American-Italian family is described as affected by an autosomal dominant inherited ataxia which meets the clinical diagnostic criteria for Machado-Joseph disease. This disorder no longer appears to be limited to individuals of known Portuguese ancestry.

Entities:  

Mesh：

Year:  1984        PMID： 6536725     DOI： 10.3109/01677068409107084

Source DB:  PubMed          Journal:  J Neurogenet        ISSN： 0167-7063            Impact factor:   1.250


  5 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.  Delirium associated with Joseph disease.

Authors:  Y Fukutani; K Katsukawa; R Matsubara; K Kobayashi; I Nakamura; N Yamaguchi
Journal:  J Neurol Neurosurg Psychiatry       Date:  1993-11       Impact factor: 10.154

4.  Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus.

Authors:  E C Twist; L K Casaubon; M H Ruttledge; V S Rao; P M Macleod; J Radvany; Z Zhao; R N Rosenberg; L A Farrer; G A Rouleau
Journal:  J Med Genet       Date:  1995-01       Impact factor: 6.318

5.  Machado Joseph disease is not an allele of the spinocerebellar ataxia 2 locus.

Authors:  E C Twist; L A Farrer; P M Macleod; J Radvany; S Chamberlain; R N Rosenberg; G A Rouleau
Journal:  Hum Genet       Date:  1994-03       Impact factor: 4.132
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.