Vihola A - 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: vihola a. Ann Neurol. 2013 Apr;73(4):500-9. doi: 10.1002/ana.23831. Epub 2013 Feb 11. Ann Neurol. 2013. PMID: 23401021

2

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: vihola a. Neurology. 2001 Apr 10;56(7):869-77. doi: 10.1212/wnl.56.7.869. Neurology. 2001. PMID: 11294923

3

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: vihola a. 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.

4

Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2.

Vihola A, Bassez G, Meola G, Zhang S, Haapasalo H, Paetau A, Mancinelli E, Rouche A, Hogrel JY, Laforêt P, Maisonobe T, Pellissier JF, Krahe R, Eymard B, Udd B. Vihola A, et al. Neurology. 2003 Jun 10;60(11):1854-7. doi: 10.1212/01.wnl.0000065898.61358.09. Neurology. 2003. PMID: 12796551 Free article.

5

[A new type of myotonic dystrophy].

Auvinen S, Vihola A, Krahe R, Kupila J, Hackman P, Hietaharju A, Udd B. Auvinen S, et al. Among authors: vihola a. Duodecim. 2003;119(8):707-13. Duodecim. 2003. PMID: 12806729 Review. Finnish. No abstract available.

6

New methods for molecular diagnosis and demonstration of the (CCTG)n mutation in myotonic dystrophy type 2 (DM2).

Sallinen R, Vihola A, Bachinski LL, Huoponen K, Haapasalo H, Hackman P, Zhang S, Sirito M, Kalimo H, Meola G, Horelli-Kuitunen N, Wessman M, Krahe R, Udd B. Sallinen R, et al. Among authors: vihola a. Neuromuscul Disord. 2004 Apr;14(4):274-83. doi: 10.1016/j.nmd.2004.01.002. Neuromuscul Disord. 2004. PMID: 15019706

7

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: vihola a. Neurology. 2005 Feb 22;64(4):636-42. doi: 10.1212/01.WNL.0000151853.50144.82. Neurology. 2005. PMID: 15728284

8

The kinase domain of titin controls muscle gene expression and protein turnover.

Lange S, Xiang F, Yakovenko A, Vihola A, Hackman P, Rostkova E, Kristensen J, Brandmeier B, Franzen G, Hedberg B, Gunnarsson LG, Hughes SM, Marchand S, Sejersen T, Richard I, Edström L, Ehler E, Udd B, Gautel M. Lange S, et al. Among authors: vihola a. Science. 2005 Jun 10;308(5728):1599-603. doi: 10.1126/science.1110463. Epub 2005 Mar 31. Science. 2005. PMID: 15802564

9

[The kinase domain of titin controls muscle gene expression and protein turnover].

Hackman P, Vihola A, Udd B. Hackman P, et al. Among authors: vihola a. Duodecim. 2005;121(12):1279-80. Duodecim. 2005. PMID: 16134506 Finnish. No abstract available.

10

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. Pénisson-Besnier I, et al. Among authors: vihola a. Neuromuscul Disord. 2006 Jul;16(7):427-31. doi: 10.1016/j.nmd.2006.04.009. Epub 2006 Jun 21. Neuromuscul Disord. 2006. PMID: 16793270

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