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Results: 1 to 20 of 1535

1.

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
[PubMed - indexed for MEDLINE]
2.

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.

PMID:
18179888
[PubMed - indexed for MEDLINE]
Free PMC Article
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
[PubMed - indexed for MEDLINE]
4.

Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1).

Shalaby S, Hayashi YK, Goto K, Ogawa M, Nonaka I, Noguchi S, Nishino I.

Neuromuscul Disord. 2008 Dec;18(12):959-61. doi: 10.1016/j.nmd.2008.09.012. Epub 2008 Oct 25.

PMID:
18952429
[PubMed - indexed for MEDLINE]
5.

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.

PMID:
20633900
[PubMed - indexed for MEDLINE]
Free PMC Article
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.

PMID:
19181672
[PubMed - indexed for MEDLINE]
Free PMC Article
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. doi: 10.1016/j.spen.2011.10.007. Review.

PMID:
22172421
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

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.

PMID:
21629301
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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.

PMID:
23965743
[PubMed - indexed for MEDLINE]
11.

A mutation in myotilin causes spheroid body myopathy.

Foroud T, Pankratz N, Batchman AP, Pauciulo MW, Vidal R, Miravalle L, Goebel HH, Cushman LJ, Azzarelli B, Horak H, Farlow M, Nichols WC.

Neurology. 2005 Dec 27;65(12):1936-40.

PMID:
16380616
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

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.

PMID:
22094483
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Novel FHL1 mutations in fatal and benign reducing body myopathy.

Shalaby S, Hayashi YK, Nonaka I, Noguchi S, Nishino I.

Neurology. 2009 Jan 27;72(4):375-6. doi: 10.1212/01.wnl.0000341311.84347.a0. No abstract available.

PMID:
19171836
[PubMed - indexed for MEDLINE]
15.

Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.

Jungbluth H, Zhou H, Hartley L, Halliger-Keller B, Messina S, Longman C, Brockington M, Robb SA, Straub V, Voit T, Swash M, Ferreiro A, Bydder G, Sewry CA, Müller C, Muntoni F.

Neurology. 2005 Dec 27;65(12):1930-5.

PMID:
16380615
[PubMed - indexed for MEDLINE]
16.

Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H.

Cossée M, Lagier-Tourenne C, Seguela C, Mohr M, Leturcq F, Gundesli H, Chelly J, Tranchant C, Koenig M, Mandel JL.

Neuromuscul Disord. 2009 Apr;19(4):255-60. doi: 10.1016/j.nmd.2009.02.003. Epub 2009 Mar 19.

PMID:
19303295
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
18.

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.

Susman RD, Quijano-Roy S, Yang N, Webster R, Clarke NF, Dowling J, Kennerson M, Nicholson G, Biancalana V, Ilkovski B, Flanigan KM, Arbuckle S, Malladi C, Robinson P, Vucic S, Mayer M, Romero NB, Urtizberea JA, García-Bragado F, Guicheney P, Bitoun M, Carlier RY, North KN.

Neuromuscul Disord. 2010 Apr;20(4):229-37. doi: 10.1016/j.nmd.2010.02.016. Epub 2010 Mar 12.

PMID:
20227276
[PubMed - indexed for MEDLINE]
19.

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.

PMID:
18274675
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Spongious hypertrophic cardiomyopathy in patients with mutations in the four-and-a-half LIM domain 1 gene.

Binder JS, Weidemann F, Schoser B, Niemann M, Machann W, Beer M, Plank G, Schmidt A, Bisping E, Poparic I, Lafer I, Stojakovic T, Quasthoff S, Vincent JB, Rienmueller R, Speicher MR, Berghold A, Pieske B, Windpassinger C.

Circ Cardiovasc Genet. 2012 Oct 1;5(5):490-502. doi: 10.1161/CIRCGENETICS.111.962332. Epub 2012 Aug 25.

PMID:
22923418
[PubMed - indexed for MEDLINE]
Free Article

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