Labeit S - Search Results

1

Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene.

Haravuori H, Vihola A, Straub V, Auranen M, Richard I, Marchand S, Voit T, Labeit S, Somer H, Peltonen L, Beckmann JS, Udd B. Haravuori H, et al. Among authors: labeit s. Neurology. 2001 Apr 10;56(7):869-77. doi: 10.1212/wnl.56.7.869. Neurology. 2001. PMID: 11294923

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. Hackman P, et al. Among authors: labeit s. Am J Hum Genet. 2002 Sep;71(3):492-500. doi: 10.1086/342380. Epub 2002 Jul 26. Am J Hum Genet. 2002. PMID: 12145747 Free PMC article.

3

C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.

Carmignac V, Salih MA, Quijano-Roy S, Marchand S, Al Rayess MM, Mukhtar MM, Urtizberea JA, Labeit S, Guicheney P, Leturcq F, Gautel M, Fardeau M, Campbell KP, Richard I, Estournet B, Ferreiro A. Carmignac V, et al. Among authors: labeit s. Ann Neurol. 2007 Apr;61(4):340-51. doi: 10.1002/ana.21089. Ann Neurol. 2007. PMID: 17444505

4

Molecular tools for the study of titin's differential expression.

Centner T, Fougerousse F, Freiburg A, Witt C, Beckmann JS, Granzier H, Trombitás K, Gregorio CC, Labeit S. Centner T, et al. Among authors: labeit s. Adv Exp Med Biol. 2000;481:35-49; discussion 50-2. doi: 10.1007/978-1-4615-4267-4_3. Adv Exp Med Biol. 2000. PMID: 10987065 Review.

5

Series of exon-skipping events in the elastic spring region of titin as the structural basis for myofibrillar elastic diversity.

Freiburg A, Trombitas K, Hell W, Cazorla O, Fougerousse F, Centner T, Kolmerer B, Witt C, Beckmann JS, Gregorio CC, Granzier H, Labeit S. Freiburg A, et al. Among authors: labeit s. Circ Res. 2000 Jun 9;86(11):1114-21. doi: 10.1161/01.res.86.11.1114. Circ Res. 2000. PMID: 10850961 Free article.

6

Refined localisation of the genes for nebulin and titin on chromosome 2q allows the assignment of nebulin as a candidate gene for autosomal recessive nemaline myopathy.

Pelin K, Ridanpää M, Donner K, Wilton S, Krishnarajah J, Laing N, Kolmerer B, Millevoi S, Labeit S, de la Chapelle A, Wallgren-Petterson C. Pelin K, et al. Among authors: labeit s. Eur J Hum Genet. 1997 Jul-Aug;5(4):229-34. Eur J Hum Genet. 1997. PMID: 9359044

7

Titin antibodies in myasthenia gravis: identification of a major immunogenic region of titin.

Gautel M, Lakey A, Barlow DP, Holmes Z, Scales S, Leonard K, Labeit S, Mygland A, Gilhus NE, Aarli JA. Gautel M, et al. Among authors: labeit s. Neurology. 1993 Aug;43(8):1581-5. doi: 10.1212/wnl.43.8.1581. Neurology. 1993. PMID: 8351016

8

Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy.

Bonne G, Carrier L, Bercovici J, Cruaud C, Richard P, Hainque B, Gautel M, Labeit S, James M, Beckmann J, Weissenbach J, Vosberg HP, Fiszman M, Komajda M, Schwartz K. Bonne G, et al. Among authors: labeit s. Nat Genet. 1995 Dec;11(4):438-40. doi: 10.1038/ng1295-438. Nat Genet. 1995. PMID: 7493026

9

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. Pelin K, et al. Among authors: labeit s. Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):2305-10. doi: 10.1073/pnas.96.5.2305. Proc Natl Acad Sci U S A. 1999. PMID: 10051637 Free PMC article.

10

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. Gerull B, et al. Among authors: labeit s. Nat Genet. 2002 Feb;30(2):201-4. doi: 10.1038/ng815. Epub 2002 Jan 14. Nat Genet. 2002. PMID: 11788824

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