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Results: 1 to 20 of 165

1.

Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin.

Ohlsson M, Hedberg C, Brådvik B, Lindberg C, Tajsharghi H, Danielsson O, Melberg A, Udd B, Martinsson T, Oldfors A.

Brain. 2012 Jun;135(Pt 6):1682-94. doi: 10.1093/brain/aws103. Epub 2012 May 9.

PMID:
22577218
[PubMed - indexed for MEDLINE]
Free Article
2.

Titin mutation segregates with hereditary myopathy with early respiratory failure.

Pfeffer G, Elliott HR, Griffin H, Barresi R, Miller J, Marsh J, Evilä A, Vihola A, Hackman P, Straub V, Dick DJ, Horvath R, Santibanez-Koref M, Udd B, Chinnery PF.

Brain. 2012 Jun;135(Pt 6):1695-713. doi: 10.1093/brain/aws102. Epub 2012 May 9.

PMID:
22577215
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins.

Toro C, Olivé M, Dalakas MC, Sivakumar K, Bilbao JM, Tyndel F, Vidal N, Farrero E, Sambuughin N, Goldfarb LG.

BMC Neurol. 2013 Mar 20;13:29. doi: 10.1186/1471-2377-13-29.

PMID:
23514108
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure.

Izumi R, Niihori T, Aoki Y, Suzuki N, Kato M, Warita H, Takahashi T, Tateyama M, Nagashima T, Funayama R, Abe K, Nakayama K, Aoki M, Matsubara Y.

J Hum Genet. 2013 May;58(5):259-66. doi: 10.1038/jhg.2013.9. Epub 2013 Feb 28.

PMID:
23446887
[PubMed - indexed for MEDLINE]
5.

Hereditary myopathy with early respiratory failure: occurrence in various populations.

Palmio J, Evilä A, Chapon F, Tasca G, Xiang F, Brådvik B, Eymard B, Echaniz-Laguna A, Laporte J, Kärppä M, Mahjneh I, Quinlivan R, Laforêt P, Damian M, Berardo A, Taratuto AL, Bueri JA, Tommiska J, Raivio T, Tuerk M, Gölitz P, Chevessier F, Sewry C, Norwood F, Hedberg C, Schröder R, Edström L, Oldfors A, Hackman P, Udd B.

J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):345-53. doi: 10.1136/jnnp-2013-304965. Epub 2013 Apr 19.

PMID:
23606733
[PubMed - indexed for MEDLINE]
6.

Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.

Pfeffer G, Barresi R, Wilson IJ, Hardy SA, Griffin H, Hudson J, Elliott HR, Ramesh AV, Radunovic A, Winer JB, Vaidya S, Raman A, Busby M, Farrugia ME, Ming A, Everett C, Emsley HC, Horvath R, Straub V, Bushby K, Lochmüller H, Chinnery PF, Sarkozy A.

J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):331-8. doi: 10.1136/jnnp-2012-304728. Epub 2013 Mar 13.

PMID:
23486992
[PubMed - indexed for MEDLINE]
7.

Trusting new age weapons to tackle titin.

Nowak KJ.

Brain. 2012 Jun;135(Pt 6):1665-7. doi: 10.1093/brain/aws123. Epub 2012 May 9. No abstract available.

PMID:
22577220
[PubMed - indexed for MEDLINE]
Free Article
8.

Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.

Hedberg C, Melberg A, Dahlbom K, Oldfors A.

Brain. 2014 Apr;137(Pt 4):e270. doi: 10.1093/brain/awt305. Epub 2013 Nov 14. No abstract available.

PMID:
24231549
[PubMed - indexed for MEDLINE]
9.

Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.

Pfeffer G, Griffin H, Pyle A, Horvath R, Chinnery PF.

Brain. 2014 Apr;137(Pt 4):e271. doi: 10.1093/brain/awt306. Epub 2013 Nov 21. No abstract available.

PMID:
24271327
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.

Kley RA, Hellenbroich Y, van der Ven PF, Fürst DO, Huebner A, Bruchertseifer V, Peters SA, Heyer CM, Kirschner J, Schröder R, Fischer D, Müller K, Tolksdorf K, Eger K, Germing A, Brodherr T, Reum C, Walter MC, Lochmüller H, Ketelsen UP, Vorgerd M.

Brain. 2007 Dec;130(Pt 12):3250-64. Review.

PMID:
18055494
[PubMed - indexed for MEDLINE]
Free Article
11.

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.

Hackman P, Vihola A, Haravuori H, Marchand S, Sarparanta J, De Seze J, Labeit S, Witt C, Peltonen L, Richard I, Udd B.

Am J Hum Genet. 2002 Sep;71(3):492-500. Epub 2002 Jul 26.

PMID:
12145747
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation.

Tasca G, Mirabella M, Broccolini A, Monforte M, Sabatelli M, Biscione GL, Piluso G, Gualandi F, Tonali PA, Udd B, Ricci E.

Neuromuscul Disord. 2010 Nov;20(11):730-4. doi: 10.1016/j.nmd.2010.07.269. Epub 2010 Aug 13.

PMID:
20708934
[PubMed - indexed for MEDLINE]
13.

Desmin-related myopathy: clinical, electrophysiological, radiological, neuropathological and genetic studies.

Olivé M, Goldfarb L, Moreno D, Laforet E, Dagvadorj A, Sambuughin N, Martínez-Matos JA, Martínez F, Alió J, Farrero E, Vicart P, Ferrer I.

J Neurol Sci. 2004 Apr 15;219(1-2):125-37.

PMID:
15050448
[PubMed - indexed for MEDLINE]
14.

Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.

Gerull B, Gramlich M, Atherton J, McNabb M, Trombitás K, Sasse-Klaassen S, Seidman JG, Seidman C, Granzier H, Labeit S, Frenneaux M, Thierfelder L.

Nat Genet. 2002 Feb;30(2):201-4. Epub 2002 Jan 14.

PMID:
11788824
[PubMed - indexed for MEDLINE]
15.

Phenotypic features and genetic findings in 2 chinese families with Miyoshi distal myopathy.

Ro LS, Lee-Chen GJ, Lin TC, Wu YR, Chen CM, Lin CY, Chen ST.

Arch Neurol. 2004 Oct;61(10):1594-9.

PMID:
15477515
[PubMed - indexed for MEDLINE]
16.

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]
17.

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]
18.

The first Italian family with tibial muscular dystrophy caused by a novel titin mutation.

Pollazzon M, Suominen T, Penttilä S, Malandrini A, Carluccio MA, Mondelli M, Marozza A, Federico A, Renieri A, Hackman P, Dotti MT, Udd B.

J Neurol. 2010 Apr;257(4):575-9. doi: 10.1007/s00415-009-5372-3. Epub 2009 Nov 13.

PMID:
19911250
[PubMed - indexed for MEDLINE]
19.

Myopathy with respiratory failure and typical myofibrillar lesions.

Edström L, Thornell LE, Albo J, Landin S, Samuelsson M.

J Neurol Sci. 1990 May;96(2-3):211-28.

PMID:
2376753
[PubMed - indexed for MEDLINE]
20.

Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype?

Gamez J, Armstrong J, Shatunov A, Selva-O'Callaghan A, Dominguez-Oronoz R, Ortega A, Goldfarb L, Ferrer I, Olivé M.

J Neurol Sci. 2009 Feb 15;277(1-2):167-71. doi: 10.1016/j.jns.2008.10.019. Epub 2008 Nov 22.

PMID:
19027924
[PubMed - indexed for MEDLINE]
Free PMC Article

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