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Journal of Neurology

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01-03-2012 | Letter to the Editors

Letter to the editors: comment on “Hereditary sensory and autonomic neuropathy II due to novel mutation in the HSN2 gene in Mexican families”

Authors: Masoud Shekarabi, Patrick A. Dion, Guy A. Rouleau

Published in: Journal of Neurology | Issue 3/2012

Excerpt

Dear Sirs, …

Pacheco-Cuellar G, Gonzalez-Huerta LM, Valdes-Miranda JM, Pelaez-Gonzalez H, Zenteno-Bacheron S, Cazarin-Barrientos J, Cuevas-Covarrubias SA (2011) Hereditary sensory and autonomic neuropathy II due to novel mutation in the HSN2 gene in Mexican families. J Neurol. doi:10.1007/s00415-011-6025-x

Shekarabi M, Girard N, Riviere JB, Dion P, Houle M, Toulouse A, Lafreniere RG, Vercauteren F, Hince P, Laganiere J, Rochefort D, Faivre L, Samuels M, Rouleau GA (2008) Mutations in the nervous system–specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II. J Clin Invest 118(7):2496–2505. doi:10.1172/JCI34088 PubMed

Lafreniere RG, MacDonald ML, Dube MP, MacFarlane J, O’Driscoll M, Brais B, Meilleur S, Brinkman RR, Dadivas O, Pape T, Platon C, Radomski C, Risler J, Thompson J, Guerra-Escobio AM, Davar G, Breakefield XO, Pimstone SN, Green R, Pryse-Phillips W, Goldberg YP, Younghusband HB, Hayden MR, Sherrington R, Rouleau GA, Samuels ME (2004) Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates. Am J Hum Genet 74(5):1064–1073. doi:10.1086/420795S0002-9297(07)64371-7 PubMedCrossRef

Wade JB, Fang L, Liu J, Li D, Yang CL, Subramanya AR, Maouyo D, Mason A, Ellison DH, Welling PA (2006) WNK1 kinase isoform switch regulates renal potassium excretion. Proc Natl Acad Sci USA 103(22):8558–8563. doi:10.1073/pnas.0603109103 PubMedCrossRef

Delaloy C, Lu J, Houot AM, Disse-Nicodeme S, Gasc JM, Corvol P, Jeunemaitre X (2003) Multiple promoters in the WNK1 gene: one controls expression of a kidney-specific kinase-defective isoform. Mol Cell Biol 23(24):9208–9221PubMedCrossRef

Title: Letter to the editors: comment on “Hereditary sensory and autonomic neuropathy II due to novel mutation in the HSN2 gene in Mexican families”
Authors: Masoud Shekarabi
Patrick A. Dion
Guy A. Rouleau
Publication date: 01-03-2012
Publisher: Springer-Verlag
Published in: Journal of Neurology / Issue 3/2012
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-011-6206-7

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Letter to the editors: comment on “Hereditary sensory and autonomic neuropathy II due to novel mutation in the HSN2 gene in Mexican families”

Excerpt

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Excerpt

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