Literature DB >> 8559417

Machado-Joseph disease and SCA3: the genotype meets the phenotypes.

L Junck, J F Fink.   

Abstract

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Year:  1996        PMID： 8559417     DOI： 10.1212/wnl.46.1.4

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  4 in total

1.  Progressive ataxia due to a missense mutation in a calcium-channel gene.

Authors:  Q Yue; J C Jen; S F Nelson; R W Baloh
Journal:  Am J Hum Genet       Date:  1997-11       Impact factor: 11.025

2.  Meiotic instability associated with the CAGR1 trinucleotide repeat at 13q13.

Authors:  N T Potter
Journal:  J Med Genet       Date:  1997-05       Impact factor: 6.318

3.  Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1.

Authors:  K Flanigan; K Gardner; K Alderson; B Galster; B Otterud; M F Leppert; C Kaplan; L J Ptácek
Journal:  Am J Hum Genet       Date:  1996-08       Impact factor: 11.025

4.  Physiological and pathophysiological characteristics of ataxin-3 isoforms.

Authors:  Daniel Weishäupl; Juliane Schneider; Barbara Peixoto Pinheiro; Corinna Ruess; Sandra Maria Dold; Felix von Zweydorf; Christian Johannes Gloeckner; Jana Schmidt; Olaf Riess; Thorsten Schmidt
Journal:  J Biol Chem       Date:  2018-11-19       Impact factor: 5.157
  4 in total

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