Literature DB >> 487312

A cluster of Friedreich's ataxia in Rimouski, Québec.

J P Bouchard, A Barbeau, R Bouchard, M Paquet, R W Bouchard.   

Abstract

We described a cluster of 8 independent sibships of Friedreich's ataxia in the St-Fabien parish of Rimouski and have shown that they are all related within 6 generations. The study of this geographic and genetic isolate permitted the investigation of certain unusual features of the disease such as constant myopia, delayed reaction times to pain, flexor spasms, and a rapid evolution.

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Year:  1979        PMID： 487312     DOI： 10.1017/s0317167100119651

Source DB:  PubMed          Journal:  Can J Neurol Sci        ISSN： 0317-1671            Impact factor:   2.104


  7 in total

1.  High frequency of Friedreich's ataxia carriers in the Paphos district of Cyprus.

Authors:  E Zamba-Papanicolaou; P Koutsou; C Daiou; E Gaglia; A Georghiou; K Christodoulou
Journal:  Acta Myol       Date:  2009-07

2.  Re: Savtchenko et al. (1988): "Embryonic Expression of the Human 40-kD Keratin: Evidence from a Processed Pseudogene Sequence".

Authors:  C E Boklage
Journal:  Am J Hum Genet       Date:  1989-04       Impact factor: 11.025

3.  Linkage studies of Friedreich ataxia by means of blood-group and protein markers.

Authors:  B J Keats; L J Ward; M Lu; S Krieger; M A Wilensky; C J Forster-Gibson; M Roy; M Monté; A Barbeau; N E Simpson
Journal:  Am J Hum Genet       Date:  1987-10       Impact factor: 11.025

Review 4.  Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.

Authors:  Renata Santos; Sophie Lefevre; Dominika Sliwa; Alexandra Seguin; Jean-Michel Camadro; Emmanuel Lesuisse
Journal:  Antioxid Redox Signal       Date:  2010-09-01       Impact factor: 8.401

5.  Genetic homogeneity at the Friedreich ataxia locus on chromosome 9.

Authors:  S Chamberlain; J Shaw; J Wallis; A Rowland; L Chow; M Farrall; B Keats; A Richter; M Roy; S Melancon
Journal:  Am J Hum Genet       Date:  1989-04       Impact factor: 11.025

6.  Role of the cerebellum in complex human behavior.

Authors:  M I Botez; T Botez; R Elie; E Attig
Journal:  Ital J Neurol Sci       Date:  1989-06

7.  Friedreich Ataxia: Diagnostic Yield and Minimal Frequency in South Brazil.

Authors:  Helena Fussiger; Maria Luiza Saraiva-Pereira; Sandra Leistner-Segal; Laura Bannach Jardim
Journal:  Cerebellum       Date:  2019-02       Impact factor: 3.847
  7 in total

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