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Page 1
Genotype-phenotype correlations in recessive titinopathies.
Savarese M, Vihola A, Oates EC, Barresi R, Fiorillo C, Tasca G, Jokela M, Sarkozy A, Luo S, Díaz-Manera J, Ehrstedt C, Rojas-García R, Sáenz A, Muelas N, Lonardo F, Fodstad H, Qureshi T, Johari M, Välipakka S, Luque H, Petiot P, de Munain AL, Pane M, Mercuri E, Torella A, Nigro V, Astrea G, Santorelli FM, Bruno C, Kuntzer T, Illa I, Vílchez JJ, Julien C, Ferreiro A, Malandrini A, Zhao CB, Casar-Borota O, Davis M, Muntoni F, Hackman P, Udd B. Savarese M, et al. Among authors: hackman p. Genet Med. 2020 Dec;22(12):2029-2040. doi: 10.1038/s41436-020-0914-2. Epub 2020 Aug 11. Genet Med. 2020. PMID: 32778822 Free article.
[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: hackman p. Duodecim. 2003;119(8):707-13. Duodecim. 2003. PMID: 12806729 Review. Finnish. No abstract available.
Tibial muscular dystrophy in a Belgian family.
Van den Bergh PY, Bouquiaux O, Verellen C, Marchand S, Richard I, Hackman P, Udd B. Van den Bergh PY, et al. Among authors: hackman p. Ann Neurol. 2003 Aug;54(2):248-51. doi: 10.1002/ana.10647. Ann Neurol. 2003. PMID: 12891679
Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin.
Hakonen AH, Heiskanen S, Juvonen V, Lappalainen I, Luoma PT, Rantamaki M, Goethem GV, Lofgren A, Hackman P, Paetau A, Kaakkola S, Majamaa K, Varilo T, Udd B, Kaariainen H, Bindoff LA, Suomalainen A. Hakonen AH, et al. Among authors: hackman p. Am J Hum Genet. 2005 Sep;77(3):430-41. doi: 10.1086/444548. Epub 2005 Jul 27. Am J Hum Genet. 2005. PMID: 16080118 Free PMC article.
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: hackman p. 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
Hartia-lantiodystrofioiden molekyyligenetiikka Suomessa.
Raheem O, Suominen T, Hackman P, Vihola A, Auranen M, Kalimo H, Mahjneh I, Kärppä M, Haapasalo H, Udd B. Raheem O, et al. Among authors: hackman p. Duodecim. 2006;122(17):2130-6. Duodecim. 2006. PMID: 17115630 Finnish. No abstract available.
116 results