Literature DB >> 21625937

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

G Pacheco-Cuellar, L M González-Huerta, J M Valdés-Miranda, H Peláez-González, S Zenteno-Bacheron, J Cazarin-Barrientos, S A Cuevas-Covarrubias.   

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Year:  2011        PMID： 21625937     DOI： 10.1007/s00415-011-6025-x

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


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  12 in total

1.  New HSN2 mutation in Japanese patient with hereditary sensory and autonomic neuropathy type 2.

Authors:  M Takagi; T Ozawa; K Hara; S Naruse; T Ishihara; J Shimbo; S Igarashi; K Tanaka; O Onodera; M Nishizawa
Journal:  Neurology       Date:  2006-04-25       Impact factor: 9.910

2.  Somatic and germinal mosaicism for the steroid sulfatase gene deletion in a steroid sulfatase deficiency carrier.

Authors:  Sergio Alberto Cuevas-Covarrubias; Ana Luisa Jiménez-Vaca; Luz María González-Huerta; Margarita Valdes-Flores; Maria Del Refugio Rivera-Vega; Guadalupe Maya-Nunez; Susana H Kofman-Alfaro
Journal:  J Invest Dermatol       Date:  2002-10       Impact factor: 8.551

3.  Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians.

Authors:  K Roddier; T Thomas; G Marleau; A M Gagnon; M J Dicaire; A St-Denis; I Gosselin; A M Sarrazin; A Larbrisseau; M Lambert; M Vanasse; D Gaudet; G A Rouleau; B Brais
Journal:  Neurology       Date:  2005-05-24       Impact factor: 9.910

4.  Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.

Authors:  Ingo Kurth; Torsten Pamminger; J Christopher Hennings; Désirée Soehendra; Antje K Huebner; Annelies Rotthier; Jonathan Baets; Jan Senderek; Haluk Topaloglu; Sandra A Farrell; Gudrun Nürnberg; Peter Nürnberg; Peter De Jonghe; Andreas Gal; Christoph Kaether; Vincent Timmerman; Christian A Hübner
Journal:  Nat Genet       Date:  2009-10-18       Impact factor: 38.330

5.  Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II.

Authors:  K Coen; D Pareyson; M Auer-Grumbach; G Buyse; N Goemans; K G Claeys; N Verpoorten; M Laurà; V Scaioli; W Salmhofer; T R Pieber; E Nelis; P De Jonghe; V Timmerman
Journal:  Neurology       Date:  2006-03-14       Impact factor: 9.910

6.  A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family.

Authors:  Jean-Baptiste Rivière; Dominique J Verlaan; Masoud Shekarabi; Ronald G Lafrenière; Mélanie Bénard; Vazken M Der Kaloustian; Zuhayr Shbaklo; Guy A Rouleau
Journal:  Ann Neurol       Date:  2004-10       Impact factor: 10.422

7.  The GPR54 gene as a regulator of puberty.

Authors:  Stephanie B Seminara; Sophie Messager; Emmanouella E Chatzidaki; Rosemary R Thresher; James S Acierno; Jenna K Shagoury; Yousef Bo-Abbas; Wendy Kuohung; Kristine M Schwinof; Alan G Hendrick; Dirk Zahn; John Dixon; Ursula B Kaiser; Susan A Slaugenhaupt; James F Gusella; Stephen O'Rahilly; Mark B L Carlton; William F Crowley; Samuel A J R Aparicio; William H Colledge
Journal:  N Engl J Med       Date:  2003-10-23       Impact factor: 91.245

8.  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

9.  A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene causing, respectively, nonclassic and classic 3beta-HSD deficiency congenital adrenal hyperplasia.

Authors:  Songya Pang; Weihua Wang; Barry Rich; Raphael David; Ying Tai Chang; Goldy Carbunaru; Susan E Myers; A Forbes Howie; Karen J Smillie; J Ian Mason
Journal:  J Clin Endocrinol Metab       Date:  2002-06       Impact factor: 5.958

10.  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
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  8 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

2.  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
Journal:  J Neurol       Date:  2011-08-17       Impact factor: 4.849

Review 3.  Recent advances in clinical neurogenetics.

Authors:  José Berciano
Journal:  J Neurol       Date:  2012-11-16       Impact factor: 4.849

Review 4.  Clinical neurogenetics: recent advances.

Authors:  Davide Pareyson; Ettore Salsano
Journal:  J Neurol       Date:  2012-07-21       Impact factor: 4.849

5.  A novel nonsense mutation in WNK1/HSN2 associated with sensory neuropathy and limb destruction in four siblings of a large Iranian pedigree.

Authors:  Behrouz Rahmani; Fatemeh Fekrmandi; Keivan Ahadi; Tannaz Ahadi; Afagh Alavi; Abolhassan Ahmadiani; Sareh Asadi
Journal:  BMC Neurol       Date:  2018-11-29       Impact factor: 2.474

6.  WNK1/HSN2 isoform and the regulation of KCC2 activity.

Authors:  Valérie Bercier
Journal:  Rare Dis       Date:  2013-09-19

7.  Pathogenesis of spinal cord injury induced edema and neuropathic pain: expression of multiple isoforms of wnk1.

Authors:  Mostafa M Ahmed; HyunKyung Lee; Zach Clark; Gurwattan S Miranpuri; Carrie Nacht; Kush Patel; Lisa Liu; Jiliian Joslin; Douglus Kintner; Daniel K Resnick
Journal:  Ann Neurosci       Date:  2014-07

Review 8.  Physiological Processes Modulated by the Chloride-Sensitive WNK-SPAK/OSR1 Kinase Signaling Pathway and the Cation-Coupled Chloride Cotransporters.

Authors:  Adrián Rafael Murillo-de-Ozores; María Chávez-Canales; Paola de Los Heros; Gerardo Gamba; María Castañeda-Bueno
Journal:  Front Physiol       Date:  2020-10-20       Impact factor: 4.566
  8 in total

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