Literature DB >> 12150575

Friedreich's ataxia.

Jacek Pilch1, Ewa Jamroz, Elzbieta Marszał.   

Abstract

Friedreich's ataxia is one of the most frequent hereditary ataxias of childhood. The disease is inherited in an autosomal recessive mode. The current state of knowledge concerning genetics, pathophysiology, pathology, clinical course, differential diagnosis, genotype-phenotype correlation, and therapy is presented.

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Year:  2002        PMID: 12150575     DOI: 10.1177/088307380201700501

Source DB:  PubMed          Journal:  J Child Neurol        ISSN: 0883-0738            Impact factor:   1.987


  2 in total

Review 1.  Neurological disorders presenting mainly in adolescence.

Authors:  S Macleod; R E Appleton
Journal:  Arch Dis Child       Date:  2007-02       Impact factor: 3.791

2.  Impact of diabetes in the Friedreich ataxia clinical outcome measures study.

Authors:  Ashley McCormick; Jennifer Farmer; Susan Perlman; Martin Delatycki; George Wilmot; Katherine Matthews; Grace Yoon; Chad Hoyle; Sub H Subramony; Theresa Zesiewicz; David R Lynch; Shana E McCormack
Journal:  Ann Clin Transl Neurol       Date:  2017-07-26       Impact factor: 4.511

  2 in total

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