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Items: 1 to 20 of 97

1.

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy.

Schessl J, Zou Y, McGrath MJ, Cowling BS, Maiti B, Chin SS, Sewry C, Battini R, Hu Y, Cottle DL, Rosenblatt M, Spruce L, Ganguly A, Kirschner J, Judkins AR, Golden JA, Goebel HH, Muntoni F, Flanigan KM, Mitchell CA, Bönnemann CG.

J Clin Invest. 2008 Mar;118(3):904-12. doi: 10.1172/JCI34450.

2.

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. doi: 10.1093/brain/awn325. Epub 2009 Jan 29.

3.

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. doi: 10.1055/s-0030-1254101. Epub 2010 Jun 22.

PMID:
20571991
4.

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. doi: 10.1002/mus.23500. Epub 2012 Nov 21.

PMID:
23169582
5.

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 18;73(7):543-51. doi: 10.1212/WNL.0b013e3181b2a4b3.

PMID:
19687455
6.

An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1.

Windpassinger C, Schoser B, Straub V, Hochmeister S, Noor A, Lohberger B, Farra N, Petek E, Schwarzbraun T, Ofner L, Löscher WN, Wagner K, Lochmüller H, Vincent JB, Quasthoff S.

Am J Hum Genet. 2008 Jan;82(1):88-99. doi: 10.1016/j.ajhg.2007.09.004.

7.

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. doi: 10.1038/ejhg.2011.84. Epub 2011 Jun 1.

8.

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 15;127(Pt 10):2269-81. doi: 10.1242/jcs.140905. Epub 2014 Mar 14.

9.

Proteomic characterization of aggregate components in an intrafamilial variable FHL1-associated myopathy.

Feldkirchner S, Walter MC, Müller S, Kubny C, Krause S, Kress W, Hanisch FG, Schoser B, Schessl J.

Neuromuscul Disord. 2013 May;23(5):418-26. doi: 10.1016/j.nmd.2013.02.006. Epub 2013 Mar 13.

PMID:
23489660
10.

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. doi: 10.1016/j.spen.2011.10.007. Review.

PMID:
22172421
11.

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. doi: 10.1097/NEN.0b013e3182a23506.

12.

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 15;296(1-2):22-9. doi: 10.1016/j.jns.2010.06.017. Epub 2010 Jul 14.

13.

Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death.

Xue Y, Schoser B, Rao AR, Quadrelli R, Vaglio A, Rupp V, Beichler C, Nelson SF, Schapacher-Tilp G, Windpassinger C, Wilcox WR.

Circ Cardiovasc Genet. 2016 Apr;9(2):130-5. doi: 10.1161/CIRCGENETICS.115.001193. Epub 2016 Mar 1.

14.

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 1;24(3):714-26. doi: 10.1093/hmg/ddu490. Epub 2014 Sep 30.

15.

X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1.

Quinzii CM, Vu TH, Min KC, Tanji K, Barral S, Grewal RP, Kattah A, Camaño P, Otaegui D, Kunimatsu T, Blake DM, Wilhelmsen KC, Rowland LP, Hays AP, Bonilla E, Hirano M.

Am J Hum Genet. 2008 Jan;82(1):208-13. doi: 10.1016/j.ajhg.2007.09.013.

16.

Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy.

Selcen D, Bromberg MB, Chin SS, Engel AG.

Neurology. 2011 Nov 29;77(22):1951-9. doi: 10.1212/WNL.0b013e31823a0ebe. Epub 2011 Nov 16.

17.

Identification of FHL1 as a regulator of skeletal muscle mass: implications for human myopathy.

Cowling BS, McGrath MJ, Nguyen MA, Cottle DL, Kee AJ, Brown S, Schessl J, Zou Y, Joya J, Bönnemann CG, Hardeman EC, Mitchell CA.

J Cell Biol. 2008 Dec 15;183(6):1033-48. doi: 10.1083/jcb.200804077.

18.

Genes, proteins and complexes: the multifaceted nature of FHL family proteins in diverse tissues.

Shathasivam T, Kislinger T, Gramolini AO.

J Cell Mol Med. 2010 Dec;14(12):2702-20. doi: 10.1111/j.1582-4934.2010.01176.x. Review.

19.

Selective muscle involvement in a family affected by a second LIM domain mutation of fhl1: an imaging study using computed tomography.

Komagamine T, Kawai M, Kokubun N, Miyatake S, Ogata K, Hayashi YK, Nishino I, Hirata K.

J Neurol Sci. 2012 Jul 15;318(1-2):163-7. doi: 10.1016/j.jns.2012.04.007. Epub 2012 Apr 27.

PMID:
22541254
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. doi: 10.1016/j.nmd.2011.01.001. Review.

PMID:
21310615

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