Literature DB >> 21847616

Letter to the editors: comment on "hereditary sensory and autonomic neuropathy II due to novel mutation in the HSN2 gene in Mexican families".

Masoud Shekarabi, Patrick A Dion, Guy A Rouleau.   

Abstract

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Year:  2011        PMID： 21847616     DOI： 10.1007/s00415-011-6206-7

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


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  5 in total

1.  Multiple promoters in the WNK1 gene: one controls expression of a kidney-specific kinase-defective isoform.

Authors:  Celine Delaloy; Jingyu Lu; Anne-Marie Houot; Sandra Disse-Nicodeme; Jean-Marie Gasc; Pierre Corvol; Xavier Jeunemaitre
Journal:  Mol Cell Biol       Date:  2003-12       Impact factor: 4.272

2.  Hereditary sensory and autonomic neuropathy II due to novel mutation in the HSN2 gene in Mexican families.

Authors:  G Pacheco-Cuellar; L M González-Huerta; J M Valdés-Miranda; H Peláez-González; S Zenteno-Bacheron; J Cazarin-Barrientos; S A Cuevas-Covarrubias
Journal:  J Neurol       Date:  2011-04-06       Impact factor: 4.849

3.  WNK1 kinase isoform switch regulates renal potassium excretion.

Authors:  James B Wade; Liang Fang; Jie Liu; Dimin Li; Chao-Ling Yang; Arohan R Subramanya; Djikolngar Maouyo; Amanda Mason; David H Ellison; Paul A Welling
Journal:  Proc Natl Acad Sci U S A       Date:  2006-05-18       Impact factor: 11.205

4.  Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II.

Authors:  Masoud Shekarabi; Nathalie Girard; Jean-Baptiste Rivière; Patrick Dion; Martin Houle; André Toulouse; Ronald G Lafrenière; Freya Vercauteren; Pascale Hince; Janet Laganiere; Daniel Rochefort; Laurence Faivre; Mark Samuels; Guy A Rouleau
Journal:  J Clin Invest       Date:  2008-07       Impact factor: 14.808

5.  Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates.

Authors:  Ronald G Lafreniere; Marcia L E MacDonald; Marie-Pierre Dube; Julie MacFarlane; Mary O'Driscoll; Bernard Brais; Sebastien Meilleur; Ryan R Brinkman; Owen Dadivas; Terry Pape; Christele Platon; Chris Radomski; Jenni Risler; Jay Thompson; Ana-Maria Guerra-Escobio; Gudarz Davar; Xandra O Breakefield; Simon N Pimstone; Roger Green; William Pryse-Phillips; Y Paul Goldberg; H Banfield Younghusband; Michael R Hayden; Robin Sherrington; Guy A Rouleau; Mark E Samuels
Journal:  Am J Hum Genet       Date:  2004-04-01       Impact factor: 11.025
  5 in total
  1 in total

Review 1.  Inherited neuropathies: an update.

Authors:  Anna Sagnelli; Giuseppe Piscosquito; Davide Pareyson
Journal:  J Neurol       Date:  2013-09-24       Impact factor: 4.849
  1 in total

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