Peter Hackman

Summary

Affiliation: University of Helsinki
Country: Finland

Publications

  1. pmc Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin
    Peter Hackman
    Department of Medical Genetics and The Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland
    Am J Hum Genet 71:492-500. 2002
  2. doi request reprint Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD)
    Peter Hackman
    Folkhalsan Institute of Genetics, Department of Medical Genetics, University of Helsinki, Haartmaninkatu 8, PB 63, 00014 Helsinki, Finland
    Neuromuscul Disord 18:922-8. 2008
  3. doi request reprint Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus
    Peter Hackman
    Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland
    Neuromuscul Disord 21:338-44. 2011
  4. ncbi request reprint Enrichment of the R77C alpha-sarcoglycan gene mutation in Finnish LGMD2D patients
    P Hackman
    Folkhälsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Biomedicum, Helsinki, Finland
    Muscle Nerve 31:199-204. 2005
  5. pmc Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies
    Jaakko Sarparanta
    Department of Medical Genetics, Folkhalsan Institute of Genetics, University of Helsinki, 00014 Helsinki, Finland
    J Biol Chem 285:30304-15. 2010
  6. ncbi request reprint Distal myopathy caused by homozygous missense mutations in the nebulin gene
    Carina Wallgren-Pettersson
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Brain 130:1465-76. 2007
  7. pmc Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy
    Jaakko Sarparanta
    Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland
    Nat Genet 44:450-5, S1-2. 2012
  8. doi request reprint Expression of multiple nebulin isoforms in human skeletal muscle and brain
    Jenni Laitila
    Department of Biosciences, Division of Genetics, PO Box 56, University of Helsinki, Helsinki FI 00014, Finland
    Muscle Nerve 46:730-7. 2012
  9. ncbi request reprint Linkage to two separate loci in a family with a novel distal myopathy phenotype (MPD3)
    Henna Haravuori
    Department of Molecular Medicine, National Public Health Institute, P O Box 104, Fin 00251 Helsinki, Finland
    Neuromuscul Disord 14:183-7. 2004
  10. pmc Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin
    Anna H Hakonen
    Research Program of Neurosciences, Biomedicum Helsinki, Helsinki, Finland
    Am J Hum Genet 77:430-41. 2005

Detail Information

Publications10

  1. pmc Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin
    Peter Hackman
    Department of Medical Genetics and The Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland
    Am J Hum Genet 71:492-500. 2002
    ....
  2. doi request reprint Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD)
    Peter Hackman
    Folkhalsan Institute of Genetics, Department of Medical Genetics, University of Helsinki, Haartmaninkatu 8, PB 63, 00014 Helsinki, Finland
    Neuromuscul Disord 18:922-8. 2008
    ..The third was a nonsense mutation g.293379C>T (p.Q33396X) in Mex6. Patients with the upstream Mex5 mutation showed a more severe phenotype with earlier onset implying a genotype-phenotype correlation...
  3. doi request reprint Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus
    Peter Hackman
    Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland
    Neuromuscul Disord 21:338-44. 2011
    ..The linked region was narrowed down from <6.3 to <3.4Mb. Sequencing of the genes in the area is ongoing, aiming to identify the genetic defect...
  4. ncbi request reprint Enrichment of the R77C alpha-sarcoglycan gene mutation in Finnish LGMD2D patients
    P Hackman
    Folkhälsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Biomedicum, Helsinki, Finland
    Muscle Nerve 31:199-204. 2005
    ....
  5. pmc Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies
    Jaakko Sarparanta
    Department of Medical Genetics, Folkhalsan Institute of Genetics, University of Helsinki, 00014 Helsinki, Finland
    J Biol Chem 285:30304-15. 2010
    ..The novel interactions indicate a role for myospryn in the sarcomeric M-band and may be relevant for the molecular pathomechanisms of TMD/LGMD2J and LGMD2A...
  6. ncbi request reprint Distal myopathy caused by homozygous missense mutations in the nebulin gene
    Carina Wallgren-Pettersson
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Brain 130:1465-76. 2007
    ..We conclude that homozygous missense mutations in NEB cause a novel distal myopathy, predominantly involving lower leg extensor muscles, finger extensors and neck flexors...
  7. pmc Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy
    Jaakko Sarparanta
    Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland
    Nat Genet 44:450-5, S1-2. 2012
    ....
  8. doi request reprint Expression of multiple nebulin isoforms in human skeletal muscle and brain
    Jenni Laitila
    Department of Biosciences, Division of Genetics, PO Box 56, University of Helsinki, Helsinki FI 00014, Finland
    Muscle Nerve 46:730-7. 2012
    ..Multiple isoforms of nebulin are produced from the 183-exon-containing nebulin gene (NEB). Mutations in NEB cause nemaline myopathy, distal myopathy, and core-rod myopathy...
  9. ncbi request reprint Linkage to two separate loci in a family with a novel distal myopathy phenotype (MPD3)
    Henna Haravuori
    Department of Molecular Medicine, National Public Health Institute, P O Box 104, Fin 00251 Helsinki, Finland
    Neuromuscul Disord 14:183-7. 2004
    ..No mutations were identified in the coding sequence...
  10. pmc Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin
    Anna H Hakonen
    Research Program of Neurosciences, Biomedicum Helsinki, Helsinki, Finland
    Am J Hum Genet 77:430-41. 2005
    ....