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Items: 1 to 20 of 264

1.

Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).

Hackman P, Marchand S, Sarparanta J, Vihola A, Pénisson-Besnier I, Eymard B, Pardal-Fernández JM, Hammouda el-H, Richard I, Illa I, Udd B.

Neuromuscul Disord. 2008 Dec;18(12):922-8. doi: 10.1016/j.nmd.2008.07.010.

PMID:
18948003
2.

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.

3.

Atypical phenotypes in titinopathies explained by second titin mutations.

Evilä A, Vihola A, Sarparanta J, Raheem O, Palmio J, Sandell S, Eymard B, Illa I, Rojas-Garcia R, Hankiewicz K, Negrão L, Löppönen T, Nokelainen P, Kärppä M, Penttilä S, Screen M, Suominen T, Richard I, Hackman P, Udd B.

Ann Neurol. 2014 Feb;75(2):230-40. doi: 10.1002/ana.24102.

PMID:
24395473
4.

Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J.

Udd B, Vihola A, Sarparanta J, Richard I, Hackman P.

Neurology. 2005 Feb 22;64(4):636-42.

PMID:
15728284
5.

Dysferlin mutation in a Chinese pedigree with Miyoshi myopathy.

Shunchang S, Fan Q, Huacheng W, Leturcq F, Yongjian S, Bingfeng Z, Wen Y, Deburgrave N.

Clin Neurol Neurosurg. 2006 Jun;108(4):369-73.

PMID:
16023782
6.

Tibial muscular dystrophy in a Belgian family.

Van den Bergh PY, Bouquiaux O, Verellen C, Marchand S, Richard I, Hackman P, Udd B.

Ann Neurol. 2003 Aug;54(2):248-51.

PMID:
12891679
7.

Myotilinopathy in a family with late onset myopathy.

Pénisson-Besnier I, Talvinen K, Dumez C, Vihola A, Dubas F, Fardeau M, Hackman P, Carpen O, Udd B.

Neuromuscul Disord. 2006 Jul;16(7):427-31.

PMID:
16793270
8.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
9.

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
10.

Novel DYSF mutations in Thai patients with distal myopathy.

Liewluck T, Pongpakdee S, Witoonpanich R, Sangruchi T, Pho-Iam T, Limwongse C, Thongnoppakhun W, Boonyapisit K, Sopassathit V, Phudhichareonrat S, Suthiponpaisan U, Raksadawan N, Goto K, Hayashi YK, Nishino I.

Clin Neurol Neurosurg. 2009 Sep;111(7):613-8. doi: 10.1016/j.clineuro.2009.05.001.

PMID:
19493611
11.

Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype.

Pénisson-Besnier I, Hackman P, Suominen T, Sarparanta J, Huovinen S, Richard-Crémieux I, Udd B.

J Neurol Neurosurg Psychiatry. 2010 Nov;81(11):1200-2. doi: 10.1136/jnnp.2009.178434.

PMID:
20571043
12.

Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies.

Charton K, Danièle N, Vihola A, Roudaut C, Gicquel E, Monjaret F, Tarrade A, Sarparanta J, Udd B, Richard I.

Hum Mol Genet. 2010 Dec 1;19(23):4608-24. doi: 10.1093/hmg/ddq388.

13.

Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy.

Gerull B, Atherton J, Geupel A, Sasse-Klaassen S, Heuser A, Frenneaux M, McNabb M, Granzier H, Labeit S, Thierfelder L.

J Mol Med (Berl). 2006 Jun;84(6):478-83.

PMID:
16733766
14.

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
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.

PMID:
11788824
16.

CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.

Charton K, Sarparanta J, Vihola A, Milic A, Jonson PH, Suel L, Luque H, Boumela I, Richard I, Udd B.

Hum Mol Genet. 2015 Jul 1;24(13):3718-31. doi: 10.1093/hmg/ddv116.

17.

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.

PMID:
19911250
18.

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

Pelin K, Hilpelä P, Donner K, Sewry C, Akkari PA, Wilton SD, Wattanasirichaigoon D, Bang ML, Centner T, Hanefeld F, Odent S, Fardeau M, Urtizberea JA, Muntoni F, Dubowitz V, Beggs AH, Laing NG, Labeit S, de la Chapelle A, Wallgren-Pettersson C.

Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):2305-10.

19.

Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect.

Jaiswal JK, Marlow G, Summerill G, Mahjneh I, Mueller S, Hill M, Miyake K, Haase H, Anderson LV, Richard I, Kiuru-Enari S, McNeil PL, Simon SM, Bashir R.

Traffic. 2007 Jan;8(1):77-88.

20.

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
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