Bjarne Udd

Research interests

Publications

• Congenital Titinopathy: Comprehensive characterization and pathogenic insights

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

• 229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017

  Neuromuscular Disorders · 2018 · https://doi.org/10.1016/j.nmd.2018.05.007

• 229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017

  Neuromuscular Disorders · 2018 · https://doi.org/10.1016/j.nmd.2018.05.007

• 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 · https://doi.org/10.1212/wnl.0000000000002324

• Late onset spinal motor neuronopathy is caused by mutation in CHCHD 10

  Annals of Neurology · 2014 · https://doi.org/10.1002/ana.24319

• Recessive TTN truncating mutations define novel forms of core myopathy with heart disease

  Human Molecular Genetics · 2013 · https://doi.org/10.1093/hmg/ddt494

• 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

• Titin mutation segregates with hereditary myopathy with early respiratory failure

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

• 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

• Distal myopathies – New genetic entities expand diagnostic challenge

  Neuromuscular Disorders · 2011 · https://doi.org/10.1016/j.nmd.2011.10.003

• 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

• Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band – implications for hereditary myopathies

  Journal of Cell Science · 2008 · https://doi.org/10.1242/jcs.028019

• EFNS guidelines for the use of intravenous immunoglobulin in treatment of neurological diseases

  European Journal of Neurology · 2008 · https://doi.org/10.1111/j.1468-1331.2008.02246.x

• 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 · https://doi.org/10.1093/brain/awm006

• 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

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

  Neurology · 2005 · https://doi.org/10.1212/01.wnl.0000151853.50144.82

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

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

• Secondary calpain3 deficiency in 2q-linked muscular dystrophy

  Neurology · 2001 · https://doi.org/10.1212/wnl.56.7.869

• Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans

  Proceedings of the National Academy of Sciences · 2001 · https://doi.org/10.1073/pnas.98.4.2017

• Proximal myotonic dystrophy—a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes?

  Neuromuscular Disorders · 1997 · https://doi.org/10.1016/s0960-8966(97)00041-2

• Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation: A clinical and genealogical study of 36 patients

  Brain · 1996 · https://doi.org/10.1093/brain/119.4.1153

• Tibial Muscular Dystrophy

  Archives of Neurology · 1993 · https://doi.org/10.1001/archneur.1993.00540060044015

Current projects

No projects listed.