Literature DB >> 8733063

Different origins of mutations at the Machado-Joseph locus (MJD1)

P Iughetti, M Zatz, M R Bueno, S K Marie.   

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Year:  1996        PMID： 8733063      PMCID： PMC1050622          DOI： 10.1136/jmg.33.5.439

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  13 in total

1.  [Clinical, genetic and pathological aspects of Machado-Joseph disease].

Authors:  P Coutinho; J Sequeiros
Journal:  J Genet Hum       Date:  1981-09

Review 2.  Machado-Joseph disease: an autosomal dominant motor system degeneration.

Authors:  R N Rosenberg
Journal:  Mov Disord       Date:  1992       Impact factor: 10.338

3.  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

4.  Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease.

Authors:  T Matilla; A McCall; S H Subramony; H Y Zoghbi
Journal:  Ann Neurol       Date:  1995-07       Impact factor: 10.422

5.  A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus.

Authors:  G Stevanin; E Le Guern; N Ravisé; H Chneiweiss; A Dürr; G Cancel; A Vignal; A L Boch; M Ruberg; C Penet
Journal:  Am J Hum Genet       Date:  1994-01       Impact factor: 11.025

6.  The gene for Machado-Joseph disease maps to human chromosome 14q.

Authors:  Y Takiyama; M Nishizawa; H Tanaka; S Kawashima; H Sakamoto; Y Karube; H Shimazaki; M Soutome; K Endo; S Ohta
Journal:  Nat Genet       Date:  1993-07       Impact factor: 38.330

7.  Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease.

Authors:  Y Takiyama; S Igarashi; E A Rogaeva; K Endo; E I Rogaev; H Tanaka; R Sherrington; K Sanpei; Y Liang; M Saito
Journal:  Hum Mol Genet       Date:  1995-07       Impact factor: 6.150

8.  The gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of approximately 3 cM on chromosome 14q24.3-q32.2.

Authors:  G Stevanin; G Cancel; A Dürr; H Chneiweiss; O Dubourg; J Weissenbach; H M Cann; Y Agid; A Brice
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025

9.  Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients.

Authors:  L Schöls; A M Vieira-Saecker; S Schöls; H Przuntek; J T Epplen; O Riess
Journal:  Hum Mol Genet       Date:  1995-06       Impact factor: 6.150

10.  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
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  3 in total

1.  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

2.  Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease.

Authors:  H S Lee; N Sambuughin; L Cervenakova; J Chapman; M Pocchiari; S Litvak; H Y Qi; H Budka; T del Ser; H Furukawa; P Brown; D C Gajdusek; J C Long; A D Korczyn; L G Goldfarb
Journal:  Am J Hum Genet       Date:  1999-04       Impact factor: 11.025

Review 3.  SCA3: neurological features, pathogenesis and animal models.

Authors:  Olaf Riess; Udo Rüb; Annalisa Pastore; Peter Bauer; Ludger Schöls
Journal:  Cerebellum       Date:  2008       Impact factor: 3.847
  3 in total

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