Peter Hackman

Research interests

Publications

• Congenital Titinopathy: Comprehensive characterization and pathogenic insights

  Annals of Neurology · 2018 · https://doi.org/10.1002/ana.25241

• TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

  Journal of Clinical Investigation · 2018 · 10.1172/jci97103

• Increasing Role of Titin Mutations in Neuromuscular Disorders

  Journal of Neuromuscular Diseases · 2016 · https://doi.org/10.3233/jnd-160158

• Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy

  Neurology · 2015 · 10.1212/wnl.0000000000002324

• Titin mutation segregates with hereditary myopathy with early respiratory failure

  Brain · 2012 · https://doi.org/10.1093/brain/aws102

• Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5

  Neurology · 2012 · 10.1212/wnl.0b013e31824c4682

• Welander distal myopathy is caused by a mutation in the RNA‐binding protein TIA1

  Annals of Neurology · 2012 · https://doi.org/10.1002/ana.23831

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

  Nature Genetics · 2012 · https://doi.org/10.1038/ng.1103

• Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy

  The American Journal of Human Genetics · 2011 · https://doi.org/10.1016/j.ajhg.2011.04.021

• Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland

  European Journal of Human Genetics · 2011 · 10.1038/ejhg.2011.23

• Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD)

  Neuromuscular Disorders · 2008 · 10.1016/j.nmd.2008.07.010

• Distal myopathy caused by homozygous missense mutations in the nebulin gene

  Brain · 2007 · https://doi.org/10.1093/brain/awm094

• Zaspopathy in a large classic late-onset distal myopathy family

  Brain · 2007 · 10.1093/brain/awm006

• Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J

  Neurology · 2005 · 10.1212/01.wnl.0000151853.50144.82

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

  Science · 2005 · https://doi.org/10.1126/science.1110463

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

  The American Journal of Human Genetics · 2005 · https://doi.org/10.1086/444548

• POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement

  Neurology · 2004 · https://doi.org/10.1212/01.wnl.0000140494.58732.83

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

  The American Journal of Human Genetics · 2002 · https://doi.org/10.1086/342380

• K‐ras mutations in human adenocarcinoma of the lung: Association with smoking and occupational exposure to asbestos

  International Journal of Cancer · 1993 · 10.1002/ijc.2910530213

Current projects

No projects listed.