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Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.
Savarese M, Maggi L, Vihola A, Jonson PH, Tasca G, Ruggiero L, Bello L, Magri F, Giugliano T, Torella A, Evilä A, Di Fruscio G, Vanakker O, Gibertini S, Vercelli L, Ruggieri A, Antozzi C, Luque H, Janssens S, Pasanisi MB, Fiorillo C, Raimondi M, Ergoli M, Politano L, Bruno C, Rubegni A, Pane M, Santorelli FM, Minetti C, Angelini C, De Bleecker J, Moggio M, Mongini T, Comi GP, Santoro L, Mercuri E, Pegoraro E, Mora M, Hackman P, Udd B, Nigro V. Savarese M, et al. Among authors: vihola a. JAMA Neurol. 2018 May 1;75(5):557-565. doi: 10.1001/jamaneurol.2017.4899. JAMA Neurol. 2018. PMID: 29435569 Free PMC article.
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.
The role of titin in muscular disorders.
Hackman JP, Vihola AK, Udd AB. Hackman JP, et al. Among authors: vihola ak. Ann Med. 2003;35(6):434-41. doi: 10.1080/07853890310012797. Ann Med. 2003. PMID: 14572168
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
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
Zaspopathy in a large classic late-onset distal myopathy family.
Griggs R, Vihola A, Hackman P, Talvinen K, Haravuori H, Faulkner G, Eymard B, Richard I, Selcen D, Engel A, Carpen O, Udd B. Griggs R, et al. Among authors: vihola a. Brain. 2007 Jun;130(Pt 6):1477-84. doi: 10.1093/brain/awm006. Epub 2007 Mar 2. Brain. 2007. PMID: 17337483
60 results