BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

243 related articles for article (PubMed ID: 23965743)

  • 1. Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders.
    Malfatti E; Olivé M; Taratuto AL; Richard P; Brochier G; Bitoun M; Gueneau L; Laforêt P; Stojkovic T; Maisonobe T; Monges S; Lubieniecki F; Vasquez G; Streichenberger N; Lacène E; Saccoliti M; Prudhon B; Alexianu M; Figarella-Branger D; Schessl J; Bonnemann C; Eymard B; Fardeau M; Bonne G; Romero NB
    J Neuropathol Exp Neurol; 2013 Sep; 72(9):833-45. PubMed ID: 23965743
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Reducing body myopathy and other FHL1-related muscular disorders.
    Schessl J; Feldkirchner S; Kubny C; Schoser B
    Semin Pediatr Neurol; 2011 Dec; 18(4):257-63. PubMed ID: 22172421
    [TBL] [Abstract][Full Text] [Related]  

  • 3. FHL1-related myopathy may not be classified by reducing bodies in muscle biopsy.
    Chen T; Lu X; Shi Q; Guo J; Wang H; Wang Q; Yin X; Zhang Y; Pu C; Zhou D
    Neuromuscul Disord; 2020 Feb; 30(2):165-172. PubMed ID: 32001145
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Fhl1 W122S causes loss of protein function and late-onset mild myopathy.
    Emmanuele V; Kubota A; Garcia-Diaz B; Garone C; Akman HO; Sánchez-Gutiérrez D; Escudero LM; Kariya S; Homma S; Tanji K; Quinzii CM; Hirano M
    Hum Mol Genet; 2015 Feb; 24(3):714-26. PubMed ID: 25274776
    [TBL] [Abstract][Full Text] [Related]  

  • 5. X-linked Recessive Distal Myopathy With Hypertrophic Cardiomyopathy Caused by a Novel Mutation in the FHL1 Gene.
    D'Arcy C; Kanellakis V; Forbes R; Wilding B; McGrath M; Howell K; Ryan M; McLean C
    J Child Neurol; 2015 Aug; 30(9):1211-7. PubMed ID: 25246303
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Loss of FHL1 induces an age-dependent skeletal muscle myopathy associated with myofibrillar and intermyofibrillar disorganization in mice.
    Domenighetti AA; Chu PH; Wu T; Sheikh F; Gokhin DS; Guo LT; Cui Z; Peter AK; Christodoulou DC; Parfenov MG; Gorham JM; Li DY; Banerjee I; Lai X; Witzmann FA; Seidman CE; Seidman JG; Gomes AV; Shelton GD; Lieber RL; Chen J
    Hum Mol Genet; 2014 Jan; 23(1):209-25. PubMed ID: 23975679
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel FHL1 mutation variant identified in a patient with nonobstructive hypertrophic cardiomyopathy and myopathy - a case report.
    Giucă A; Mitu C; Popescu BO; Bastian AE; Capşa R; Mursă A; Rădoi V; Popescu BA; Jurcuţ R
    BMC Med Genet; 2020 Sep; 21(1):188. PubMed ID: 32993534
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.
    Gueneau L; Bertrand AT; Jais JP; Salih MA; Stojkovic T; Wehnert M; Hoeltzenbein M; Spuler S; Saitoh S; Verschueren A; Tranchant C; Beuvin M; Lacene E; Romero NB; Heath S; Zelenika D; Voit T; Eymard B; Ben Yaou R; Bonne G
    Am J Hum Genet; 2009 Sep; 85(3):338-53. PubMed ID: 19716112
    [TBL] [Abstract][Full Text] [Related]  

  • 9. FHL1 mutants that cause clinically distinct human myopathies form protein aggregates and impair myoblast differentiation.
    Wilding BR; McGrath MJ; Bonne G; Mitchell CA
    J Cell Sci; 2014 May; 127(Pt 10):2269-81. PubMed ID: 24634512
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene.
    Sarkozy A; Windpassinger C; Hudson J; Dougan CF; Lecky B; Hilton-Jones D; Eagle M; Charlton R; Barresi R; Lochmüller H; Bushby K; Straub V
    Eur J Hum Genet; 2011 Oct; 19(10):1038-44. PubMed ID: 21629301
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy.
    Selcen D; Bromberg MB; Chin SS; Engel AG
    Neurology; 2011 Nov; 77(22):1951-9. PubMed ID: 22094483
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Three novel FHL1 variants cause a mild phenotype of Emery-Dreifuss muscular dystrophy.
    Borch JDS; Krag T; Holm-Yildiz SD; Cetin H; Solheim TA; Fornander F; Straub V; Duno M; Vissing J
    Hum Mutat; 2022 Sep; 43(9):1234-1238. PubMed ID: 35607917
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.
    Schessl J; Taratuto AL; Sewry C; Battini R; Chin SS; Maiti B; Dubrovsky AL; Erro MG; Espada G; Robertella M; Saccoliti M; Olmos P; Bridges LR; Standring P; Hu Y; Zou Y; Swoboda KJ; Scavina M; Goebel HH; Mitchell CA; Flanigan KM; Muntoni F; Bönnemann CG
    Brain; 2009 Feb; 132(Pt 2):452-64. PubMed ID: 19181672
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Unclassifiable arrhythmic cardiomyopathy associated with Emery-Dreifuss caused by a mutation in FHL1.
    San Román I; Navarro M; Martínez F; Albert L; Polo L; Guardiola J; García-Molina E; Muñoz-Esparza C; López-Ayala JM; Sabater-Molina M; Gimeno JR
    Clin Genet; 2016 Aug; 90(2):171-6. PubMed ID: 26857240
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Consequences of mutations within the C terminus of the FHL1 gene.
    Schoser B; Goebel HH; Janisch I; Quasthoff S; Rother J; Bergmann M; Müller-Felber W; Windpassinger C
    Neurology; 2009 Aug; 73(7):543-51. PubMed ID: 19687455
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Cardiomyopathy and altered integrin-actin signaling in Fhl1 mutant female mice.
    Kubota A; Juanola-Falgarona M; Emmanuele V; Sanchez-Quintero MJ; Kariya S; Sera F; Homma S; Tanji K; Quinzii CM; Hirano M
    Hum Mol Genet; 2019 Jan; 28(2):209-219. PubMed ID: 30260394
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Myofibrillar myopathy caused by a novel FHL1 mutation presenting a mild myopathy with ankle contracture.
    Park YE; Kim DS; Shin JH
    Clin Neurol Neurosurg; 2019 May; 180():48-51. PubMed ID: 30928807
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: identification of a second LIM domain mutation in FHL1.
    Schessl J; Columbus A; Hu Y; Zou Y; Voit T; Goebel HH; Bönnemann CG
    Neuropediatrics; 2010 Feb; 41(1):43-6. PubMed ID: 20571991
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Muscle hypertrophy as the presenting sign in a patient with a complete FHL1 deletion.
    Willis TA; Wood CL; Hudson J; Polvikoski T; Barresi R; Lochmüller H; Bushby K; Straub V
    Clin Genet; 2016 Aug; 90(2):166-70. PubMed ID: 27409453
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features.
    Cowling BS; Cottle DL; Wilding BR; D'Arcy CE; Mitchell CA; McGrath MJ
    Neuromuscul Disord; 2011 Apr; 21(4):237-51. PubMed ID: 21310615
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.