Literature DB >> 15316811

Large de novo expansion of CAG repeats in patient with sporadic spinocerebellar ataxia type 7.

Peter Bauer, Josef Kraus, Vaclav Matoska, Martina Brouckova, Alena Zumrova, Petr Goetz.   

Abstract

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Year:  2004        PMID： 15316811     DOI： 10.1007/s00415-004-0482-4

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  7 in total

Review 1.  Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology.

Authors:  G Stevanin; A Dürr; A Brice
Journal:  Eur J Hum Genet       Date:  2000-01       Impact factor: 4.246

2.  Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission.

Authors:  L G Gouw; M A Castañeda; C K McKenna; K B Digre; S M Pulst; S Perlman; M S Lee; C Gomez; K Fischbeck; D Gagnon; E Storey; T Bird; F R Jeri; L J Ptácek
Journal:  Hum Mol Genet       Date:  1998-03       Impact factor: 6.150

3.  De novo expansion of intermediate alleles in spinocerebellar ataxia 7.

Authors:  G Stevanin; P Giunti; G D Belal; A Dürr; M Ruberg; N Wood; A Brice
Journal:  Hum Mol Genet       Date:  1998-10       Impact factor: 6.150

4.  Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.

Authors:  G David; N Abbas; G Stevanin; A Dürr; G Yvert; G Cancel; C Weber; G Imbert; F Saudou; E Antoniou; H Drabkin; R Gemmill; P Giunti; A Benomar; N Wood; M Ruberg; Y Agid; J L Mandel; A Brice
Journal:  Nat Genet       Date:  1997-09       Impact factor: 38.330

5.  Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7).

Authors:  G David; A Dürr; G Stevanin; G Cancel; N Abbas; A Benomar; S Belal; A S Lebre; M Abada-Bendib; D Grid; M Holmberg; M Yahyaoui; F Hentati; T Chkili; Y Agid; A Brice
Journal:  Hum Mol Genet       Date:  1998-02       Impact factor: 6.150

6.  The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1.

Authors:  A Benomar; L Krols; G Stevanin; G Cancel; E LeGuern; G David; H Ouhabi; J J Martin; A Dürr; A Zaim
Journal:  Nat Genet       Date:  1995-05       Impact factor: 38.330

7.  Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype.

Authors:  C S Benton; R de Silva; S L Rutledge; S Bohlega; T Ashizawa; H Y Zoghbi
Journal:  Neurology       Date:  1998-10       Impact factor: 9.910
  7 in total
  3 in total

1.  Spinocerebellar ataxias type 8, 12, and 17 and dentatorubro-pallidoluysian atrophy in Czech ataxic patients.

Authors:  Zuzana Musova; Zdenek Sedlacek; Radim Mazanec; Jiri Klempir; Jan Roth; Pavlina Plevova; Martin Vyhnalek; Marta Kopeckova; Ludmila Apltova; Anna Krepelova; Alena Zumrova
Journal:  Cerebellum       Date:  2013-04       Impact factor: 3.847

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

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

3.  De novo mutations in ataxin-2 gene and ALS risk.

Authors:  José Miguel Laffita-Mesa; Jorge Michel Rodríguez Pupo; Raciel Moreno Sera; Yaimee Vázquez Mojena; Vivian Kourí; Leonides Laguna-Salvia; Michael Martínez-Godales; José A Valdevila Figueira; Peter O Bauer; Roberto Rodríguez-Labrada; Yanetza González Zaldívar; Martin Paucar; Per Svenningsson; Luís Velázquez Pérez
Journal:  PLoS One       Date:  2013-08-06       Impact factor: 3.240
  3 in total

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