BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

223 related articles for article (PubMed ID: 22094483)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy.
    D'Avila F; Meregalli M; Lupoli S; Barcella M; Orro A; De Santis F; Sitzia C; Farini A; D'Ursi P; Erratico S; Cristofani R; Milanesi L; Braga D; Cusi D; Poletti A; Barlassina C; Torrente Y
    J Muscle Res Cell Motil; 2016 Jun; 37(3):101-15. PubMed ID: 27443559
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. Mutation in BAG3 causes severe dominant childhood muscular dystrophy.
    Selcen D; Muntoni F; Burton BK; Pegoraro E; Sewry C; Bite AV; Engel AG
    Ann Neurol; 2009 Jan; 65(1):83-9. PubMed ID: 19085932
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A Dominant C150Y Mutation in FHL1 Induces Structural Alterations in LIM2 Domain Causing Protein Aggregation In Human and Drosophila Indirect Flight Muscles.
    Santhoshkumar R; Preethish-Kumar V; Mangalaparthi KK; Unni S; Padmanabhan B; T S KP; Nongthomba U; Atchayaram N; Narayanappa G
    J Mol Neurosci; 2021 Nov; 71(11):2324-2335. PubMed ID: 33515430
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Reducing body myopathy associated with the LIM2 p.(His123Arg) FHL1 variant.
    Darki L; Jalali-Sohi A; Guzman S; Mathew AJ; Bucelli RC; Hurth KM; Beydoun SR
    Clin Neurol Neurosurg; 2021 Aug; 207():106795. PubMed ID: 34273663
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients.
    Waddell LB; Tran J; Zheng XF; Bönnemann CG; Hu Y; Evesson FJ; Lek M; Arbuckle S; Wang MX; Smith RL; North KN; Clarke NF
    Neuromuscul Disord; 2011 Nov; 21(11):776-81. PubMed ID: 21683594
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutations.
    Chen DH; Raskind WH; Parson WW; Sonnen JA; Vu T; Zheng Y; Matsushita M; Wolff J; Lipe H; Bird TD
    J Neurol Sci; 2010 Sep; 296(1-2):22-9. PubMed ID: 20633900
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Novel FHL1 mutation in a family with reducing body myopathy.
    Schreckenbach T; Henn W; Kress W; Roos A; Maschke M; Feiden W; Dillmann U; Schulz JB; Weis J; Claeys KG
    Muscle Nerve; 2013 Jan; 47(1):127-34. PubMed ID: 23169582
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 12.