Similar articles for PMID: 22065612

Year	Number of Results
1988	1
1989	2
1991	1
1992	4
1993	1
1994	2
1995	1
1996	2
1997	4
1998	4
1999	3
2000	1
2002	1
2003	2
2004	1
2006	3
2007	2
2008	4
2009	2
2010	9
2011	8
2012	8
2013	3
2014	3
2015	5
2016	5
2017	7
2018	2
2019	6
2020	3
2021	1
2024	0

1

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.

2

Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation.

Berciano J, Baets J, Gallardo E, Zimoń M, García A, López-Laso E, Combarros O, Infante J, Timmerman V, Jordanova A, De Jonghe P. Berciano J, et al. J Neurol. 2011 Aug;258(8):1413-21. doi: 10.1007/s00415-011-5947-7. Epub 2011 Feb 19. J Neurol. 2011. PMID: 21336783

3

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

4

[Experience in molecular diagnostic in hereditary neuropathies in a pediatric tertiary hospital].

Fernández-Ramos JA, López-Laso E, Camino-León R, Gascón-Jiménez FJ, Jiménez-González MD. Fernández-Ramos JA, et al. Rev Neurol. 2015 Dec 1;61(11):490-8. Rev Neurol. 2015. PMID: 26602803 Free article. Spanish.

5

A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family.

Wang B, Li X, Huang S, Zhao H, Liu J, Hu Z, Lin Z, Liu L, Xie Y, Jin Q, Zhao H, Tang B, Niu Q, Zhang R. Wang B, et al. Clin Genet. 2019 Aug;96(2):176-182. doi: 10.1111/cge.13563. Epub 2019 May 27. Clin Genet. 2019. PMID: 31069783

6

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

Sullivan JM, Landouré G, Gaudet R, Sumner CJ. Sullivan JM, et al. Neurology. 2014 Nov 18;83(21):1991. doi: 10.1212/WNL.0000000000001041. Neurology. 2014. PMID: 25404646 Free PMC article. No abstract available.

7

Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls.

Fawcett KA, Murphy SM, Polke JM, Wray S, Burchell VS, Manji H, Quinlivan RM, Zdebik AA, Reilly MM, Houlden H. Fawcett KA, et al. J Neurol Neurosurg Psychiatry. 2012 Dec;83(12):1204-9. doi: 10.1136/jnnp-2012-303055. Epub 2012 Jul 31. J Neurol Neurosurg Psychiatry. 2012. PMID: 22851605

8

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.

9

The puzzle of TRPV4 channelopathies.

Nilius B, Voets T. Nilius B, et al. EMBO Rep. 2013 Feb;14(2):152-63. doi: 10.1038/embor.2012.219. Epub 2013 Jan 11. EMBO Rep. 2013. PMID: 23306656 Free PMC article. Review.

10

[Hereditary motor and sensory neuropathy type 4A].

Shagina OA, Dadali EL, Fedotov VP, Tiburkova TB, Poliakov AV. Shagina OA, et al. Zh Nevrol Psikhiatr Im S S Korsakova. 2010;110(5 Pt 1):13-6. Zh Nevrol Psikhiatr Im S S Korsakova. 2010. PMID: 21322820 Russian.

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