Literature DB >> 5061839

Machado disease. A hereditary ataxia in Portuguese emigrants to Massachusetts.

K K Nakano, D M Dawson, A Spence.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1972        PMID： 5061839     DOI： 10.1212/wnl.22.1.49

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


× No keyword cloud information.
  30 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.  The perceived advantages and disadvantages of presymptomatic testing for Machado-Joseph disease: development of a new self-response inventory.

Authors:  Luísa Rolim; José A Zagalo-Cardoso; Constança Paúl; Jorge Sequeiros; Manuela Fleming
Journal:  J Genet Couns       Date:  2006-09-27       Impact factor: 2.537

3.  A Comparative Optical Coherence Tomography Study of Spinocerebellar Ataxia Types 3 and 10.

Authors:  Fernando Spina Tensini; Mario T Sato; Naoye Shiokawa; Tetsuo Ashizawa; Hélio A G Teive
Journal:  Cerebellum       Date:  2017-08       Impact factor: 3.847

4.  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

Review 5.  Machado-Joseph Disease: from first descriptions to new perspectives.

Authors:  Conceição Bettencourt; Manuela Lima
Journal:  Orphanet J Rare Dis       Date:  2011-06-02       Impact factor: 4.123

6.  Ubiquitin-immunoreactive inclusions in anterior horn cells and hypoglossal neurons in a case with Joseph's disease.

Authors:  T Suenaga; H Matsushima; S Nakamura; I Akiguchi; J Kimura
Journal:  Acta Neuropathol       Date:  1993       Impact factor: 17.088

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

Authors:  L Schöls; G Amoiridis; J T Epplen; M Langkafel; H Przuntek; O Riess
Journal:  J Neurol Neurosurg Psychiatry       Date:  1996-11       Impact factor: 10.154

8.  Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal).

Authors:  Conceição Bettencourt; Raquel Nunes Fialho; Cristina Santos; Rafael Montiel; Jácome Bruges-Armas; Patrícia Maciel; Manuela Lima
Journal:  J Hum Genet       Date:  2008-02-20       Impact factor: 3.172

9.  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

10.  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
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.