Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 111

1.

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

Zimoń M, Baets J, Auer-Grumbach M, Berciano J, Garcia A, Lopez-Laso E, Merlini L, Hilton-Jones D, McEntagart M, Crosby AH, Barisic N, Boltshauser E, Shaw CE, Landouré G, Ludlow CL, Gaudet R, Houlden H, Reilly MM, Fischbeck KH, Sumner CJ, Timmerman V, Jordanova A, Jonghe PD.

Brain. 2010 Jun;133(Pt 6):1798-809. doi: 10.1093/brain/awq109. Epub 2010 May 11.

2.

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.

Neurology. 2014 May 27;82(21):1919-26. doi: 10.1212/WNL.0000000000000450. Epub 2014 Apr 30.

PMID:
24789864
3.

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.

4.

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
5.

Channelopathies converge on TRPV4.

Nilius B, Owsianik G.

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

PMID:
20104247
6.

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.

Safka Brozkova D, Deconinck T, Griffin LB, Ferbert A, Haberlova J, Mazanec R, Lassuthova P, Roth C, Pilunthanakul T, Rautenstrauss B, Janecke AR, Zavadakova P, Chrast R, Rivolta C, Zuchner S, Antonellis A, Beg AA, De Jonghe P, Senderek J, Seeman P, Baets J.

Brain. 2015 Aug;138(Pt 8):2161-72. doi: 10.1093/brain/awv158. Epub 2015 Jun 13.

7.

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.

8.

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
9.

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
10.

TRPV4 axonal neuropathy spectrum disorder.

McEntagart M.

J Clin Neurosci. 2012 Jul;19(7):927-33. doi: 10.1016/j.jocn.2011.12.003. Epub 2012 May 20. Review.

PMID:
22617546
11.

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.

J Neurol. 2011 Aug;258(8):1413-21. doi: 10.1007/s00415-011-5947-7. Epub 2011 Feb 19.

PMID:
21336783
12.

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.

Rossor AM, Oates EC, Salter HK, Liu Y, Murphy SM, Schule R, Gonzalez MA, Scoto M, Phadke R, Sewry CA, Houlden H, Jordanova A, Tournev I, Chamova T, Litvinenko I, Zuchner S, Herrmann DN, Blake J, Sowden JE, Acsadi G, Rodriguez ML, Menezes MP, Clarke NF, Auer Grumbach M, Bullock SL, Muntoni F, Reilly MM, North KN.

Brain. 2015 Feb;138(Pt 2):293-310. doi: 10.1093/brain/awu356. Epub 2014 Dec 14.

13.

Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.

Chung KW, Kim SB, Park KD, Choi KG, Lee JH, Eun HW, Suh JS, Hwang JH, Kim WK, Seo BC, Kim SH, Son IH, Kim SM, Sunwoo IN, Choi BO.

Brain. 2006 Aug;129(Pt 8):2103-18. Epub 2006 Jul 10.

PMID:
16835246
14.

Genetic epidemiology of Charcot-Marie-Tooth disease.

Braathen GJ.

Acta Neurol Scand Suppl. 2012;(193):iv-22. doi: 10.1111/ane.12013.

PMID:
23106488
15.

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.

Neurology. 2010 Nov 30;75(22):1968-75. doi: 10.1212/WNL.0b013e3181ffe4bb.

16.

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.

17.

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.

Bonne G, Mercuri E, Muchir A, Urtizberea A, Bécane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson-Besnier I, Cuisset JM, Ferrer X, Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D, Fardeau M, Schwartz K, Muntoni F.

Ann Neurol. 2000 Aug;48(2):170-80.

PMID:
10939567
18.

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
19.

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.

J Neurol Neurosurg Psychiatry. 2012 Dec;83(12):1204-9. doi: 10.1136/jnnp-2012-303055. Epub 2012 Jul 31.

PMID:
22851605
20.

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

Landouré G, Zdebik AA, Martinez TL, Burnett BG, Stanescu HC, Inada H, Shi Y, Taye AA, Kong L, Munns CH, Choo SS, Phelps CB, Paudel R, Houlden H, Ludlow CL, Caterina MJ, Gaudet R, Kleta R, Fischbeck KH, Sumner CJ.

Nat Genet. 2010 Feb;42(2):170-4. doi: 10.1038/ng.512. Epub 2009 Dec 27.

Supplemental Content

Support Center