Peter Hackman

The Kinase Domain of Titin Controls Muscle Gene Expression and Protein Turnover

Stephan Lange, Fengqing Xiang, Andrey R Yakovenko et al. · Science · 2005 · 585 citations

Nuclear Srf, Molecular Regulation, Protein Turnover +19

Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin

Peter Hackman, Anna Vihola, Henna Haravuori et al. · The American Journal of Human Genetics · 2002 · 479 citations · Full text

Developmental Biology, Skeletal Muscle, Genetic Disorder +8

Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin

Anna H. Hakonen, Silja Heiskanen, Vesa Juvonen et al. · The American Journal of Human Genetics · 2005 · 305 citations · Full text

Mendelian Disorder, Mitochondrial Function, Genetic Disorder +10

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

J. Sarparanta, Per Harald Jonson, Christelle Golzio et al. · Nature Genetics · 2012 · 272 citations

Genome Instability, Skeletal Muscle, Genetics +7

<i>POLG</i> mutations in neurodegenerative disorders with ataxia but no muscle involvement

G. Van Goethem, Petri Luoma, Maria Rantamäki et al. · Neurology · 2004 · 258 citations