Sarparanta J - Search Results

1

Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1.

Hackman P, Sarparanta J, Lehtinen S, Vihola A, Evilä A, Jonson PH, Luque H, Kere J, Screen M, Chinnery PF, Åhlberg G, Edström L, Udd B. Hackman P, et al. Among authors: sarparanta j. Ann Neurol. 2013 Apr;73(4):500-9. doi: 10.1002/ana.23831. Epub 2013 Feb 11. Ann Neurol. 2013. PMID: 23401021

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: sarparanta j. 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

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

Udd B, Vihola A, Sarparanta J, Richard I, Hackman P. Udd B, et al. Among authors: sarparanta j. Neurology. 2005 Feb 22;64(4):636-42. doi: 10.1212/01.WNL.0000151853.50144.82. Neurology. 2005. PMID: 15728284

4

Enrichment of the R77C alpha-sarcoglycan gene mutation in Finnish LGMD2D patients.

Hackman P, Juvonen V, Sarparanta J, Penttinen M, Aärimaa T, Uusitalo M, Auranen M, Pihko H, Alén R, Junes M, Lönnqvist T, Kalimo H, Udd B. Hackman P, et al. Among authors: sarparanta j. Muscle Nerve. 2005 Feb;31(2):199-204. doi: 10.1002/mus.20267. Muscle Nerve. 2005. PMID: 15736300

5

Constitutive upregulations of titin-based signalling proteins in KY deficient muscles.

Beatham J, Gehmlich K, van der Ven PF, Sarparanta J, Williams D, Underhill P, Geier C, Fürst DO, Udd B, Blanco G. Beatham J, et al. Among authors: sarparanta j. Neuromuscul Disord. 2006 Jul;16(7):437-45. doi: 10.1016/j.nmd.2006.05.013. Epub 2006 Jun 30. Neuromuscul Disord. 2006. PMID: 16806927

6

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. Hackman P, et al. Among authors: sarparanta j. Neuromuscul Disord. 2008 Dec;18(12):922-8. doi: 10.1016/j.nmd.2008.07.010. Epub 2008 Oct 22. Neuromuscul Disord. 2008. PMID: 18948003

7

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. Pénisson-Besnier I, et al. Among authors: sarparanta j. J Neurol Neurosurg Psychiatry. 2010 Nov;81(11):1200-2. doi: 10.1136/jnnp.2009.178434. Epub 2010 Jun 22. J Neurol Neurosurg Psychiatry. 2010. PMID: 20571043

8

Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies.

Sarparanta J, Blandin G, Charton K, Vihola A, Marchand S, Milic A, Hackman P, Ehler E, Richard I, Udd B. Sarparanta J, et al. J Biol Chem. 2010 Sep 24;285(39):30304-15. doi: 10.1074/jbc.M110.108720. Epub 2010 Jul 15. J Biol Chem. 2010. PMID: 20634290 Free PMC article.

9

The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy.

Sandell S, Huovinen S, Sarparanta J, Luque H, Raheem O, Haapasalo H, Hackman P, Udd B. Sandell S, et al. Among authors: sarparanta j. J Neurol Neurosurg Psychiatry. 2010 Aug;81(8):834-9. doi: 10.1136/jnnp.2009.192351. J Neurol Neurosurg Psychiatry. 2010. PMID: 20682716

10

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. Charton K, et al. Among authors: sarparanta j. Hum Mol Genet. 2010 Dec 1;19(23):4608-24. doi: 10.1093/hmg/ddq388. Epub 2010 Sep 20. Hum Mol Genet. 2010. PMID: 20855473

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