Literature DB >> 26048687

Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation.

Georgios Koutsis1, David Lynch, Andreea Manole, Andreea Manone, Georgia Karadima, Mary M Reilly, Henry Houlden, Marios Panas.   

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Year:  2015        PMID： 26048687     DOI： 10.1007/s00415-015-7800-x

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


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  13 in total

1.  A large New England kindred with autosomal dominant neurogenic scapuloperoneal amyotrophy with unique features.

Authors:  R DeLong; T Siddique
Journal:  Arch Neurol       Date:  1992-09

Review 2.  TRPV4 axonal neuropathy spectrum disorder.

Authors:  Meriel McEntagart
Journal:  J Clin Neurosci       Date:  2012-05-20       Impact factor: 1.961

3.  Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy.

Authors:  Andoni Echaniz-Laguna; Odile Dubourg; Pierre Carlier; Robert-Yves Carlier; Pascal Sabouraud; Yann Péréon; Françoise Chapon; Christel Thauvin-Robinet; Pascal Laforêt; Bruno Eymard; Philippe Latour; Tanya Stojkovic
Journal:  Neurology       Date:  2014-04-30       Impact factor: 9.910

4.  CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene.

Authors:  D-H Chen; Y Sul; M Weiss; A Hillel; H Lipe; J Wolff; M Matsushita; W Raskind; T Bird
Journal:  Neurology       Date:  2010-11-30       Impact factor: 9.910

5.  Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.

Authors:  Magdalena Zimoń; Jonathan Baets; Michaela Auer-Grumbach; José Berciano; Antonio Garcia; Eduardo Lopez-Laso; Luciano Merlini; David Hilton-Jones; Meriel McEntagart; Andrew H Crosby; Nina Barisic; Eugen Boltshauser; Christopher E Shaw; Guida Landouré; Christy L Ludlow; Rachelle Gaudet; Henry Houlden; Mary M Reilly; Kenneth H Fischbeck; Charlotte J Sumner; Vincent Timmerman; Albena Jordanova; Peter De Jonghe
Journal:  Brain       Date:  2010-05-11       Impact factor: 13.501

Review 6.  The puzzle of TRPV4 channelopathies.

Authors:  Bernd Nilius; Thomas Voets
Journal:  EMBO Rep       Date:  2013-01-11       Impact factor: 8.807

7.  Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.

Authors:  Michaela Auer-Grumbach; Andrea Olschewski; Lea Papić; Hannie Kremer; Meriel E McEntagart; Sabine Uhrig; Carina Fischer; Eleonore Fröhlich; Zoltán Bálint; Bi Tang; Heimo Strohmaier; Hanns Lochmüller; Beate Schlotter-Weigel; Jan Senderek; Angelika Krebs; Katherine J Dick; Richard Petty; Cheryl Longman; Neil E Anderson; George W Padberg; Helenius J Schelhaas; Conny M A van Ravenswaaij-Arts; Thomas R Pieber; Andrew H Crosby; Christian Guelly
Journal:  Nat Genet       Date:  2009-12-27       Impact factor: 38.330

8.  Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.

Authors:  Han-Xiang Deng; Christopher J Klein; Jianhua Yan; Yong Shi; Yanhong Wu; Faisal Fecto; Hau-Jie Yau; Yi Yang; Hong Zhai; Nailah Siddique; E Tessa Hedley-Whyte; Robert Delong; Marco Martina; Peter J Dyck; Teepu Siddique
Journal:  Nat Genet       Date:  2009-12-27       Impact factor: 38.330

9.  Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.

Authors:  Guida Landouré; Anselm A Zdebik; Tara L Martinez; Barrington G Burnett; Horia C Stanescu; Hitoshi Inada; Yijun Shi; Addis A Taye; Lingling Kong; Clare H Munns; Shelly S Choo; Christopher B Phelps; Reema Paudel; Henry Houlden; Christy L Ludlow; Michael J Caterina; Rachelle Gaudet; Robert Kleta; Kenneth H Fischbeck; Charlotte J Sumner
Journal:  Nat Genet       Date:  2009-12-27       Impact factor: 38.330

10.  Phenotypic variability of TRPV4 related neuropathies.

Authors:  Teresinha Evangelista; Boglarka Bansagi; Angela Pyle; Helen Griffin; Konstantinos Douroudis; Tuomo Polvikoski; Thalia Antoniadi; Kate Bushby; Volker Straub; Patrick F Chinnery; Hanns Lochmüller; Rita Horvath
Journal:  Neuromuscul Disord       Date:  2015-03-18       Impact factor: 4.296
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  1 in total

1.  Exploring and expanding the phenotype and genotype diversity in seven Chinese families with spondylo-epi-metaphyseal dysplasia.

Authors:  Shanshan Lv; Jiao Zhao; Li Liu; Chun Wang; Hua Yue; Hao Zhang; Shanshan Li; Zhenlin Zhang
Journal:  Front Genet       Date:  2022-08-31       Impact factor: 4.772
  1 in total

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