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Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin
Authors: Hakonen, Anna H. Heiskanen, Silja Juvonen, Vesa Lappaleinen, Ilse Luoma, Petri T. Rantamäki, Maria Van Goethem, Gert Löfgren, Ann Hackman, Peter Paetau, Anders Kaakkola, Seppo Majamaa, Kari Varilo, Teppo Udd, Bjarne Kääriäinen, Helena Bindoff, Laurence A. Soumaleinen, Anu
Citation: H. Hakonen, Anna et al., Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin, American journal of human genetics , 77(3), 2005, pp. 430-441
Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin
Authors: Hackman, Peter Vihola, Anna Haravouri, Henna Marchand, Sylvie Sarparanta, Jaakko de Seze, Jerome Labeit, Siegfried Witt, Christian Peltonen, Leena Richard, Isabelle Udd, Bjarne
Citation: Hackman, Peter et al., Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin, American journal of human genetics , 71(3), 2002, pp. 492-500
Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy
Authors: Duff, Rachael M. Tay, Valerie Hackman, Peter Ravenscroft, Gianina Laing, Nigel G.
Citation: M. Duff, Rachael et al., Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy, American journal of human genetics (Online) AJHG , 88(6), 2011, pp. 729-740
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