Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 103

1.

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
2.

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
3.

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
4.

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
5.

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.

6.

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.

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.

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
9.

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.

10.

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.

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.

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.

14.

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
15.

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. doi: 10.1177/0883073814549807. Epub 2014 Sep 22.

PMID:
25246303
16.

Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy.

Maerkens A, Kley RA, Olivé M, Theis V, van der Ven PF, Reimann J, Milting H, Schreiner A, Uszkoreit J, Eisenacher M, Barkovits K, Güttsches AK, Tonillo J, Kuhlmann K, Meyer HE, Schröder R, Tegenthoff M, Fürst DO, Müller T, Goldfarb LG, Vorgerd M, Marcus K.

J Proteomics. 2013 Sep 2;90:14-27. doi: 10.1016/j.jprot.2013.04.026. Epub 2013 Apr 30.

17.

Patient-specific protein aggregates in myofibrillar myopathies: laser microdissection and differential proteomics for identification of plaque components.

Feldkirchner S, Schessl J, Müller S, Schoser B, Hanisch FG.

Proteomics. 2012 Dec;12(23-24):3598-609. doi: 10.1002/pmic.201100559. Epub 2012 Nov 5.

PMID:
23044792
18.

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.

19.

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
20.

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.

Supplemental Content

Support Center