Literature DB >> 7561932

Machado-Joseph disease mutations as the genetic basis of most spinocerebellar ataxias in Germany.

L Schöls, G Amoiridis, M Langkafel, T Büttner, H Przuntek, O Riess, A M Vieira-Saecker, J T Epplen.   

Abstract

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Year:  1995        PMID： 7561932      PMCID： PMC486089          DOI： 10.1136/jnnp.59.4.449

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


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  13 in total

1.  Personality changes following temporal lobectomy for epilepsy.

Authors:  D HILL; D A POND; W MITCHELL; M A FALCONER
Journal:  J Ment Sci       Date:  1957-01

2.  A large Japanese family with Machado-Joseph disease: clinical and genetic studies.

Authors:  Y Takiyama; S Ikemoto; Y Tanaka; Y Mizuno; M Yoshida; N Yasuda
Journal:  Acta Neurol Scand       Date:  1989-03       Impact factor: 3.209

3.  Hypomania following increased epileptic activity.

Authors:  A Byrne
Journal:  Br J Psychiatry       Date:  1988-10       Impact factor: 9.319

4.  Prediction of non-survival after trauma: Innsbruck Coma Scale.

Authors:  A Benzer; G Mitterschiffthaler; M Marosi; G Luef; F Pühringer; K De La Renotiere; H Lehner; E Schmutzhard
Journal:  Lancet       Date:  1991-10-19       Impact factor: 79.321

Review 5.  Machado-Joseph disease: an autosomal dominant motor system degeneration.

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

6.  Machado-Joseph disease in New England: clinical description and distinction from the olivopontocerebellar atrophies.

Authors:  L Sudarsky; L Corwin; D M Dawson
Journal:  Mov Disord       Date:  1992       Impact factor: 10.338

7.  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

8.  A clinical and pathologic study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q.

Authors:  Y Takiyama; S Oyanagi; S Kawashima; H Sakamoto; K Saito; M Yoshida; S Tsuji; Y Mizuno; M Nishizawa
Journal:  Neurology       Date:  1994-07       Impact factor: 9.910

9.  Hypomania following complex partial seizures. A report of three cases.

Authors:  P Barczak; E Edmunds; T Betts
Journal:  Br J Psychiatry       Date:  1988-01       Impact factor: 9.319

10.  Psychosis following temporal lobe surgery: a report of six cases.

Authors:  C J Mace; M R Trimble
Journal:  J Neurol Neurosurg Psychiatry       Date:  1991-07       Impact factor: 10.154
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  7 in total

Review 1.  Machado-Joseph disease/spinocerebellar ataxia type 3.

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

Review 2.  The genetic defect causing Huntington's disease: repeated in other contexts?

Authors:  J F Gusella; F Persichetti; M E MacDonald
Journal:  Mol Med       Date:  1997-04       Impact factor: 6.354

3.  Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study.

Authors:  C Gaspar; I Lopes-Cendes; S Hayes; J Goto; K Arvidsson; A Dias; I Silveira; P Maciel; P Coutinho; M Lima; Y X Zhou; B W Soong; M Watanabe; P Giunti; G Stevanin; O Riess; H Sasaki; M Hsieh; G A Nicholson; E Brunt; J J Higgins; M Lauritzen; L Tranebjaerg; V Volpini; N Wood; L Ranum; S Tsuji; A Brice; J Sequeiros; G A Rouleau
Journal:  Am J Hum Genet       Date:  2000-12-20       Impact factor: 11.025

4.  Neuron-specific proteotoxicity of mutant ataxin-3 in C. elegans: rescue by the DAF-16 and HSF-1 pathways.

Authors:  Andreia Teixeira-Castro; Michael Ailion; Ana Jalles; Heather R Brignull; João L Vilaça; Nuno Dias; Pedro Rodrigues; João F Oliveira; Andreia Neves-Carvalho; Richard I Morimoto; Patrícia Maciel
Journal:  Hum Mol Genet       Date:  2011-05-05       Impact factor: 6.150

Review 5.  Neurodegenerative disorders associated with diabetes mellitus.

Authors:  Michael Ristow
Journal:  J Mol Med (Berl)       Date:  2004-06-03       Impact factor: 4.599

Review 6.  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

7.  A mutant ataxin-3 fragment results from processing at a site N-terminal to amino acid 190 in brain of Machado-Joseph disease-like transgenic mice.

Authors:  Veronica F Colomer Gould; Daniel Goti; Donna Pearce; Guillermo A Gonzalez; Hong Gao; Mario Bermudez de Leon; Nancy A Jenkins; Neal G Copeland; Christopher A Ross; Dale R Brown
Journal:  Neurobiol Dis       Date:  2007-06-13       Impact factor: 5.996
  7 in total

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