Literature DB >> 8609529

Homozygosity for Machado-Joseph disease gene enhances phenotypic severity.

G Sobue, M Doyu, N Nakao, N Shimada, T Mitsuma, H Maruyama, S Kawakami, S Nakamura.   

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Year:  1996        PMID： 8609529      PMCID： PMC1073875          DOI： 10.1136/jnnp.60.3.354-a

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  7 in total

1.  Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease.

Authors:  D Ellis; S Malcolm
Journal:  Nat Genet       Date:  1994-04       Impact factor: 38.330

2.  CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1.

Authors:  Y Kawaguchi; T Okamoto; M Taniwaki; M Aizawa; M Inoue; S Katayama; H Kawakami; S Nakamura; M Nishimura; I Akiguchi
Journal:  Nat Genet       Date:  1994-11       Impact factor: 38.330

3.  Homozygous inheritance of the Machado-Joseph disease gene.

Authors:  A E Lang; E A Rogaeva; T Tsuda; J Hutterer; P St George-Hyslop
Journal:  Ann Neurol       Date:  1994-09       Impact factor: 10.422

4.  Joseph's disease: an autosomal dominant neurological disease in the Portuguese of the United States and the Azores Islands.

Authors:  R N Rosenberg; W L Nyhan; P Coutinho; C Bay
Journal:  Adv Neurol       Date:  1978

5.  Homozygous expression of a dominant gene for Charcot-Marie-Tooth neuropathy.

Authors:  J M Killian; H W Kloepfer
Journal:  Ann Neurol       Date:  1979-06       Impact factor: 10.422

6.  Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease.

Authors:  H Maruyama; S Nakamura; Z Matsuyama; T Sakai; M Doyu; G Sobue; M Seto; M Tsujihata; T Oh-i; T Nishio
Journal:  Hum Mol Genet       Date:  1995-05       Impact factor: 6.150

7.  The pathology of Machado-Joseph disease. Report of a possible homozygous case.

Authors:  P Coutinho; A Guimarães; F Scaravilli
Journal:  Acta Neuropathol       Date:  1982       Impact factor: 17.088
  7 in total
  10 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

Review 2.  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

3.  Chinese homozygous Machado-Joseph disease (MJD)/SCA3: a case report.

Authors:  Sheng Zeng; Junsheng Zeng; Miao He; Xianfeng Zeng; Yao Zhou; Zhen Liu; Hong Jiang; Beisha Tang; Junling Wang
Journal:  J Hum Genet       Date:  2015-01-08       Impact factor: 3.172

4.  Sequence analysis of 5' regulatory regions of the Machado-Joseph disease gene (ATXN3).

Authors:  Conceição Bettencourt; Mafalda Raposo; Nadiya Kazachkova; Cristina Santos; Teresa Kay; João Vasconcelos; Patrícia Maciel; Karina C Donis; Maria Luiza Saraiva-Pereira; Laura B Jardim; Jorge Sequeiros; Jácome Bruges-Armas; Manuela Lima
Journal:  Cerebellum       Date:  2012-12       Impact factor: 3.847

5.  A molecular investigation of true dominance in Huntington's disease.

Authors:  Y Narain; A Wyttenbach; J Rankin; R A Furlong; D C Rubinsztein
Journal:  J Med Genet       Date:  1999-10       Impact factor: 6.318

Review 6.  Huntington's Disease: Relationship Between Phenotype and Genotype.

Authors:  Yi-Min Sun; Yan-Bin Zhang; Zhi-Ying Wu
Journal:  Mol Neurobiol       Date:  2016-01-07       Impact factor: 5.590

7.  Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4).

Authors:  Giovanni Stevanin; Alexis Brice
Journal:  Cerebellum       Date:  2008       Impact factor: 3.847

Review 8.  Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations.

Authors:  Rita Guerreiro; José Brás; John Hardy; Andrew Singleton
Journal:  Hum Mol Genet       Date:  2014-05-02       Impact factor: 6.150

9.  Clinical features and genetic characteristics of homozygous spinocerebellar ataxia type 3.

Authors:  Quan-Fu Li; Hao-Ling Cheng; Lu Yang; Yin Ma; Jing-Jing Zhao; Yi Dong; Zhi-Ying Wu
Journal:  Mol Genet Genomic Med       Date:  2020-07-09       Impact factor: 2.183

10.  Allele-specific RNA silencing of mutant ataxin-3 mediates neuroprotection in a rat model of Machado-Joseph disease.

Authors:  Sandro Alves; Isabel Nascimento-Ferreira; Gwennaëlle Auregan; Raymonde Hassig; Noëlle Dufour; Emmanuel Brouillet; Maria C Pedroso de Lima; Philippe Hantraye; Luís Pereira de Almeida; Nicole Déglon
Journal:  PLoS One       Date:  2008-10-08       Impact factor: 3.240
  10 in total

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