These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

143 related articles for article (PubMed ID: 33075594)

  • 1. Novel TRPV4 mutation in a large Chinese family with congenital distal spinal muscular atrophy, skeletal dysplasia and scaly skin.
    Liu Y; Yan X; Chen Y; He Z; Ouyang Y
    J Neurol Sci; 2020 Dec; 419():117153. PubMed ID: 33075594
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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. PubMed ID: 25900305
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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. PubMed ID: 22526352
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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. PubMed ID: 21964829
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head.
    Mah W; Sonkusare SK; Wang T; Azeddine B; Pupavac M; Carrot-Zhang J; Hong K; Majewski J; Harvey EJ; Russell L; Chalk C; Rosenblatt DS; Nelson MT; Séguin C
    J Med Genet; 2016 Oct; 53(10):705-9. PubMed ID: 27330106
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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. PubMed ID: 20505684
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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. PubMed ID: 22419508
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2.
    Deng S; Feely SME; Shi Y; Zhai H; Zhan L; Siddique T; Deng HX; Shy ME
    Neuromolecular Med; 2020 Mar; 22(1):68-72. PubMed ID: 31468327
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 26(4-5):312-5. PubMed ID: 26948711
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 82(21):1919-26. PubMed ID: 24789864
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene.
    Jędrzejowska M; Dębek E; Kowalczyk B; Halat P; Kostera-Pruszczyk A; Ciara E; Jezela-Stanek A; Rydzanicz M; Gasperowicz P; Gos M
    Muscle Nerve; 2019 Jan; 59(1):129-133. PubMed ID: 30230566
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 160C(3):190-204. PubMed ID: 22791502
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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. PubMed ID: 24963089
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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. PubMed ID: 20460441
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Homozygous TRPV4 Mutation Broadens the Phenotypic Spectrum of Congenital Spinal Muscular Atrophy and Arthrogryposis: A Case Report.
    Lugo E; Graulau E; Ramos Cortes E; Carlo S; Ramírez N
    Cureus; 2023 Aug; 15(8):e43413. PubMed ID: 37706131
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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. PubMed ID: 27751652
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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. PubMed ID: 22628388
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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. PubMed ID: 20037588
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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. PubMed ID: 26110311
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature review.
    Chen H; Sun C; Zheng Y; Yin J; Gao M; Zhao C; Lin J
    BMC Neurol; 2023 Jun; 23(1):250. PubMed ID: 37391745
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.