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Items: 1 to 20 of 199

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
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.

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.

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
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
6.

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
7.

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
8.

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
9.

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.

10.

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
11.

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
12.

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

Lange S, Edström L, Udd B, Gautel M.

Brain. 2014 Jun;137(Pt 6):e279. doi: 10.1093/brain/awu033. Epub 2014 Feb 24. No abstract available.

13.

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

Pfeffer G, Chinnery PF.

Brain. 2014 Jun;137(Pt 6):e280. doi: 10.1093/brain/awu034. Epub 2014 Feb 27. No abstract available.

14.

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.

15.

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
16.

New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure.

Yue D, Gao M, Zhu W, Luo S, Xi J, Wang B, Li Y, Cai S, Li J, Wang Y, Lu J, Zhao C.

Neuromuscul Disord. 2015 Feb;25(2):172-6. doi: 10.1016/j.nmd.2014.11.005. Epub 2014 Nov 18.

PMID:
25500009
17.

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
18.

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
19.

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
20.

Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.

Uruha A, Hayashi YK, Oya Y, Mori-Yoshimura M, Kanai M, Murata M, Kawamura M, Ogata K, Matsumura T, Suzuki S, Takahashi Y, Kondo T, Kawarabayashi T, Ishii Y, Kokubun N, Yokoi S, Yasuda R, Kira J, Mitsuhashi S, Noguchi S, Nonaka I, Nishino I.

J Neurol Neurosurg Psychiatry. 2015 May;86(5):483-9. doi: 10.1136/jnnp-2014-309009. Epub 2014 Sep 24.

PMID:
25253871

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