Sarparanta J - Search Results

1

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.

Sarparanta J, Jonson PH, Golzio C, Sandell S, Luque H, Screen M, McDonald K, Stajich JM, Mahjneh I, Vihola A, Raheem O, Penttilä S, Lehtinen S, Huovinen S, Palmio J, Tasca G, Ricci E, Hackman P, Hauser M, Katsanis N, Udd B. Sarparanta J, et al. Nat Genet. 2012 Feb 26;44(4):450-5, S1-2. doi: 10.1038/ng.1103. Nat Genet. 2012. PMID: 22366786 Free PMC article.

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

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

6

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

7

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.

8

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

9

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

10

Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus.

Hackman P, Sandell S, Sarparanta J, Luque H, Huovinen S, Palmio J, Paetau A, Kalimo H, Mahjneh I, Udd B. Hackman P, et al. Among authors: sarparanta j. Neuromuscul Disord. 2011 May;21(5):338-44. doi: 10.1016/j.nmd.2011.02.008. Epub 2011 Mar 3. Neuromuscul Disord. 2011. PMID: 21376592

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