20037588 21115951 22065612 24789864 31041394 31191204 32579787[uid] - Search Results

Year	Number of Results
2009	1
2010	2
2011	1
2014	1
2018	1
2019	2
2020	1
2024	0

1

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

Auer-Grumbach M, Olschewski A, Papić L, Kremer H, McEntagart ME, Uhrig S, Fischer C, Fröhlich E, Bálint Z, Tang B, Strohmaier H, Lochmüller H, Schlotter-Weigel B, Senderek J, Krebs A, Dick KJ, Petty R, Longman C, Anderson NE, Padberg GW, Schelhaas HJ, van Ravenswaaij-Arts CM, Pieber TR, Crosby AH, Guelly C. Auer-Grumbach M, et al. Nat Genet. 2010 Feb;42(2):160-4. doi: 10.1038/ng.508. Epub 2009 Dec 27. Nat Genet. 2010. PMID: 20037588 Free PMC article.

2

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

Chen DH, Sul Y, Weiss M, Hillel A, Lipe H, Wolff J, Matsushita M, Raskind W, Bird T. Chen DH, et al. Neurology. 2010 Nov 30;75(22):1968-75. doi: 10.1212/WNL.0b013e3181ffe4bb. Neurology. 2010. PMID: 21115951 Free PMC article.

3

Striking phenotypic variability in familial TRPV4-axonal neuropathy spectrum disorder.

Aharoni S, Harlalka G, Offiah A, Shuper A, Crosby AH, McEntagart M. Aharoni S, et al. Am J Med Genet A. 2011 Dec;155A(12):3153-6. doi: 10.1002/ajmg.a.34327. Epub 2011 Nov 7. Am J Med Genet A. 2011. PMID: 22065612 No abstract available.

4

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

Echaniz-Laguna A, Dubourg O, Carlier P, Carlier RY, Sabouraud P, Péréon Y, Chapon F, Thauvin-Robinet C, Laforêt P, Eymard B, Latour P, Stojkovic T. Echaniz-Laguna A, et al. Neurology. 2014 May 27;82(21):1919-26. doi: 10.1212/WNL.0000000000000450. Epub 2014 Apr 30. Neurology. 2014. PMID: 24789864

5

Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis.

Velilla J, Marchetti MM, Toth-Petroczy A, Grosgogeat C, Bennett AH, Carmichael N, Estrella E, Darras BT, Frank NY, Krier J, Gaudet R, Gupta VA. Velilla J, et al. Neurol Genet. 2019 Mar 7;5(2):e312. doi: 10.1212/NXG.0000000000000312. eCollection 2019 Apr. Neurol Genet. 2019. PMID: 31041394 Free PMC article.

6

Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant.

Faye E, Modaff P, Pauli R, Legare J. Faye E, et al. Mol Syndromol. 2019 May;10(3):154-160. doi: 10.1159/000495778. Epub 2018 Dec 21. Mol Syndromol. 2019. PMID: 31191204 Free PMC article. Review.

7

Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database.

Tunca C, Şeker T, Akçimen F, Coşkun C, Bayraktar E, Palvadeau R, Zor S, Koçoğlu C, Kartal E, Şen NE, Hamzeiy H, Özoğuz Erimiş A, Norman U, Karakahya O, Olgun G, Akgün T, Durmuş H, Şahin E, Çakar A, Başar Gürsoy E, Babacan Yıldız G, İşak B, Uluç K, Hanağası H, Bilgiç B, Turgut N, Aysal F, Ertaş M, Boz C, Kotan D, İdrisoğlu H, Soysal A, Uzun Adatepe N, Akalın MA, Koç F, Tan E, Oflazer P, Deymeer F, Taştan Ö, Çiçek AE, Kavak E, Parman Y, Başak AN. Tunca C, et al. Hum Mutat. 2020 Aug;41(8):e7-e45. doi: 10.1002/humu.24055. Epub 2020 Jun 24. Hum Mutat. 2020. PMID: 32579787

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