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Items: 1 to 20 of 82

1.

Mutations in the TRPV4 gene are not associated with sporadic progressive muscular atrophy.

Vlam L, Schelhaas HJ, van Blitterswijk M, van Vught PW, de Visser M, van der Kooi AJ, van der Pol WL, van den Berg LH.

Arch Neurol. 2012 Jun;69(6):790-1. doi: 10.1001/archneurol.2012.148. No abstract available.

PMID:
22689196
2.

Intrafamilial variable hearing loss in TRPV4 induced spinal muscular atrophy.

Oonk AM, Ekker MS, Huygen PL, Kunst HP, Kremer H, Schelhaas JJ, Pennings RJ.

Ann Otol Rhinol Laryngol. 2014 Dec;123(12):859-65. doi: 10.1177/0003489414539130. Epub 2014 Jun 24.

PMID:
24963089
3.

Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells.

Oates EC, Reddel S, Rodriguez ML, Gandolfo LC, Bahlo M, Hawke SH, Lamandé SR, Clarke NF, North KN.

Brain. 2012 Jun;135(Pt 6):1714-23. doi: 10.1093/brain/aws108.

PMID:
22628388
4.

TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature.

Biasini F, Portaro S, Mazzeo A, Vita G, Fabrizi GM, Taioli F, Toscano A, Rodolico C.

Neuromuscul Disord. 2016 Apr-May;26(4-5):312-5. doi: 10.1016/j.nmd.2016.02.010. Epub 2016 Feb 23. Review.

PMID:
26948711
5.

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

Deng HX, Klein CJ, Yan J, Shi Y, Wu Y, Fecto F, Yau HJ, Yang Y, Zhai H, Siddique N, Hedley-Whyte ET, Delong R, Martina M, Dyck PJ, Siddique T.

Nat Genet. 2010 Feb;42(2):165-9. doi: 10.1038/ng.509. Epub 2009 Dec 27.

6.

Phenotypic variability of TRPV4 related neuropathies.

Evangelista T, Bansagi B, Pyle A, Griffin H, Douroudis K, Polvikoski T, Antoniadi T, Bushby K, Straub V, Chinnery PF, Lochmüller H, Horvath R.

Neuromuscul Disord. 2015 Jun;25(6):516-21. doi: 10.1016/j.nmd.2015.03.007. Epub 2015 Mar 18.

7.

TRPV4 mutations in children with congenital distal spinal muscular atrophy.

Fiorillo C, Moro F, Brisca G, Astrea G, Nesti C, Bálint Z, Olschewski A, Meschini MC, Guelly C, Auer-Grumbach M, Battini R, Pedemonte M, Romano A, Menchise V, Biancheri R, Santorelli FM, Bruno C.

Neurogenetics. 2012 Aug;13(3):195-203. doi: 10.1007/s10048-012-0328-7. Epub 2012 Apr 25.

PMID:
22526352
8.

Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?

Unger S, Lausch E, Stanzial F, Gillessen-Kaesbach G, Stefanova I, Di Stefano CM, Bertini E, Dionisi-Vici C, Nilius B, Zabel B, Superti-Furga A.

Am J Med Genet A. 2011 Nov;155A(11):2860-4. doi: 10.1002/ajmg.a.34268. Epub 2011 Sep 30.

PMID:
21964829
9.

A case of congenital spinal muscular atrophy with pain due to a mutation in TRPV4.

Fleming J, Quan D.

Neuromuscul Disord. 2016 Dec;26(12):841-843. doi: 10.1016/j.nmd.2016.09.013. Epub 2016 Sep 16.

PMID:
27751652
10.

Channelopathies converge on TRPV4.

Nilius B, Owsianik G.

Nat Genet. 2010 Feb;42(2):98-100. doi: 10.1038/ng0210-98.

PMID:
20104247
11.

TRPV4-associated skeletal dysplasias.

Nishimura G, Lausch E, Savarirayan R, Shiba M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A, Unger S.

Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):190-204. doi: 10.1002/ajmg.c.31335. Epub 2012 Jul 12. Review.

PMID:
22791502
12.

TRPV4-pathy, a novel channelopathy affecting diverse systems.

Dai J, Cho TJ, Unger S, Lausch E, Nishimura G, Kim OH, Superti-Furga A, Ikegawa S.

J Hum Genet. 2010 Jul;55(7):400-2. doi: 10.1038/jhg.2010.37. Epub 2010 May 27. Review.

PMID:
20505684
13.

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.

Nat Genet. 2010 Feb;42(2):160-4. doi: 10.1038/ng.508. Epub 2009 Dec 27.

14.

Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis.

Guenther UP, Varon R, Schlicke M, Dutrannoy V, Volk A, Hübner C, von Au K, Schuelke M.

Hum Mutat. 2007 Aug;28(8):808-15.

PMID:
17431882
15.
16.

Long-Term Observations in an Affected Family with Neurogenic Scapuloperoneal Syndrome Caused by Mutation R269C in the TRPV4 Gene.

Vill K, Kuhn M, Gläser D, Walter MC, Müller-Felber W.

Neuropediatrics. 2015 Aug;46(4):282-6. doi: 10.1055/s-0035-1554100. Epub 2015 Jun 25.

PMID:
26110311
17.

[Point mutation analysis of SMN1 gene in patients with spinal muscular atrophy].

QU YJ, DU J, LI EZ, YANG YL, ZOU LP, BAI JL, WANG H, JIN YW, SONG F.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Apr;28(2):121-6. doi: 10.3760/cma.j.issn.1003-9406.2011.02.001. Chinese.

PMID:
21462119
18.

TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients.

Cho TJ, Matsumoto K, Fano V, Dai J, Kim OH, Chae JH, Yoo WJ, Tanaka Y, Matsui Y, Takigami I, Monges S, Zabel B, Shimizu K, Nishimura G, Lausch E, Ikegawa S.

Am J Med Genet A. 2012 Apr;158A(4):795-802. doi: 10.1002/ajmg.a.35268. Epub 2012 Mar 14.

PMID:
22419508
19.

TRPV4-mediated channelopathies.

Verma P, Kumar A, Goswami C.

Channels (Austin). 2010 Jul-Aug;4(4):319-28. Epub 2010 Jul 6. Review.

PMID:
20676052
20.

Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.

Sun Y, Grimmler M, Schwarzer V, Schoenen F, Fischer U, Wirth B.

Hum Mutat. 2005 Jan;25(1):64-71.

PMID:
15580564

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