B Udd

Summary

Country: Finland

Publications

  1. ncbi Molecular biology of distal muscular dystrophies--sarcomeric proteins on top
    Bjarne Udd
    Department of Neurology, Tampere University Hospital and Vasa Central Hospital, University of Tampere Medical Scool, Finland
    Biochim Biophys Acta 1772:145-58. 2007
  2. doi The myotonic dystrophies: molecular, clinical, and therapeutic challenges
    Bjarne Udd
    Neuromuscular Research Unit, Tampere University and University Hospital, Tampere, Finland
    Lancet Neurol 11:891-905. 2012
  3. doi Distal myopathies--new genetic entities expand diagnostic challenge
    Bjarne Udd
    Neuromuscular Research Center, Tampere University and University Hospital, Tampere, Finland
    Neuromuscul Disord 22:5-12. 2012
  4. ncbi Report of the 115th ENMC workshop: DM2/PROMM and other myotonic dystrophies. 3rd Workshop, 14-16 February 2003, Naarden, The Netherlands
    B Udd
    Neurology Department, Vasa Central Hospital, 65130 Vasa, Finland
    Neuromuscul Disord 13:589-96. 2003
  5. ncbi 140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management
    B Udd
    Neurology Department, Tampere University Hospital and Tampere Medical School, Finland
    Neuromuscul Disord 16:403-13. 2006
  6. doi Genetics and pathogenesis of distal muscular dystrophies
    Bjarne Udd
    Neuromuscular Centre, Tampere University Hospital and University of Tampere, Helsinki, Finland
    Adv Exp Med Biol 652:23-38. 2009
  7. ncbi 104th European Neuromuscular Centre (ENMC) International Workshop: distal myopathies, 8-10th March 2002 in Naarden, The Netherlands
    B Udd
    Neurological Department, Vasa Central Hospital, 65130, Vasa, Finland
    Neuromuscul Disord 12:897-904. 2002
  8. doi Distal muscular dystrophies
    Bjarne Udd
    Department of Neurology, Tampere University and University Hospital, Tampere, Finland
    Handb Clin Neurol 101:239-62. 2011
  9. ncbi Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J
    B Udd
    Neurological Department, Vaasa Central Hospital, Finland
    Neurology 64:636-42. 2005
  10. ncbi Tibial muscular dystrophy--from clinical description to linkage on chromosome 2q31
    B Udd
    Neurological Department, Vasa Central Hospital, Finland
    Neuromuscul Disord 8:327-32. 1998

Collaborators

Detail Information

Publications37

  1. ncbi Molecular biology of distal muscular dystrophies--sarcomeric proteins on top
    Bjarne Udd
    Department of Neurology, Tampere University Hospital and Vasa Central Hospital, University of Tampere Medical Scool, Finland
    Biochim Biophys Acta 1772:145-58. 2007
    ....
  2. doi The myotonic dystrophies: molecular, clinical, and therapeutic challenges
    Bjarne Udd
    Neuromuscular Research Unit, Tampere University and University Hospital, Tampere, Finland
    Lancet Neurol 11:891-905. 2012
    ..Despite clinical and genetic similarities, myotonic dystrophy type 1 and type 2 are distinct disorders requiring different diagnostic and management strategies...
  3. doi Distal myopathies--new genetic entities expand diagnostic challenge
    Bjarne Udd
    Neuromuscular Research Center, Tampere University and University Hospital, Tampere, Finland
    Neuromuscul Disord 22:5-12. 2012
    ....
  4. ncbi Report of the 115th ENMC workshop: DM2/PROMM and other myotonic dystrophies. 3rd Workshop, 14-16 February 2003, Naarden, The Netherlands
    B Udd
    Neurology Department, Vasa Central Hospital, 65130 Vasa, Finland
    Neuromuscul Disord 13:589-96. 2003
  5. ncbi 140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management
    B Udd
    Neurology Department, Tampere University Hospital and Tampere Medical School, Finland
    Neuromuscul Disord 16:403-13. 2006
  6. doi Genetics and pathogenesis of distal muscular dystrophies
    Bjarne Udd
    Neuromuscular Centre, Tampere University Hospital and University of Tampere, Helsinki, Finland
    Adv Exp Med Biol 652:23-38. 2009
    ..The highly selective involvement of muscles in many of the distal dystrophies is even less well understood...
  7. ncbi 104th European Neuromuscular Centre (ENMC) International Workshop: distal myopathies, 8-10th March 2002 in Naarden, The Netherlands
    B Udd
    Neurological Department, Vasa Central Hospital, 65130, Vasa, Finland
    Neuromuscul Disord 12:897-904. 2002
  8. doi Distal muscular dystrophies
    Bjarne Udd
    Department of Neurology, Tampere University and University Hospital, Tampere, Finland
    Handb Clin Neurol 101:239-62. 2011
    ..Strikingly, many of the genes involved in distal dystrophies code for sarcomeric proteins. However, the genetic programs leading to preferential involvement of distal muscles have remained unknown...
  9. ncbi Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J
    B Udd
    Neurological Department, Vaasa Central Hospital, Finland
    Neurology 64:636-42. 2005
    ....
  10. ncbi Tibial muscular dystrophy--from clinical description to linkage on chromosome 2q31
    B Udd
    Neurological Department, Vasa Central Hospital, Finland
    Neuromuscul Disord 8:327-32. 1998
    ..This indicates one major ancient founder mutation for TMD in Finland. There is one superior candidate gene on the 2q31 locus, the gene encoding a giant protein titin, expressed in heart and skeletal muscle...
  11. ncbi A distinct phenotype of distal myopathy in a large Finnish family
    I Mahjneh
    Department of Neurology, Oulu University Hospital, Finland
    Neurology 61:87-92. 2003
    ..The authors carried out clinical, histopathologic, immunocytochemical, electrophysiologic, and imaging investigations and molecular genetic analysis in seven patients with distal myopathy belonging to a Finnish family...
  12. doi Late-onset lower motor neuronopathy: a new autosomal dominant disorder
    M Jokela
    Department of Neurology, Turku University Hospital, PO Box 52, FIN 20521 Turku, Finland
    Neurology 77:334-40. 2011
    ..Characterization of a new type of late-onset autosomal dominant lower motor neuron disease...
  13. doi Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5
    S Penttilä
    Neuromuscular Research Unit, Tampere University and University Hospital, Tampere, Finland
    Neurology 78:897-903. 2012
    ..Description of 8 new ANO5 mutations and significant expansion of the clinical phenotype spectrum associated with previously known and unknown mutations to improve diagnostic accuracy...
  14. ncbi Proximal myotonic dystrophy--a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes?
    B Udd
    Neurological Department, Vasa Central Hospital, Finland
    Neuromuscul Disord 7:217-28. 1997
    ..These findings suggest phenotypic and probably genetic heterogeneity among the proximal myotonic syndromes...
  15. ncbi Muscle magnetic resonance imaging shows distinct diagnostic patterns in Welander and tibial muscular dystrophy
    I Mahjneh
    Department of Neurology, University of Oulu, Oulu, Finland
    Acta Neurol Scand 110:87-93. 2004
    ....
  16. doi Altered expression and splicing of Ca(2+) metabolism genes in myotonic dystrophies DM1 and DM2
    A Vihola
    Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland
    Neuropathol Appl Neurobiol 39:390-405. 2013
    ..Here we have further investigated the expression of genes and proteins involved in Ca(2+) metabolism in DM patients, including Ca(2+) channels and Ca(2+) binding proteins...
  17. ncbi Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2
    A Vihola
    Department of Neurology, Vaasa Central Hospital, Vaasa, Finland
    Neurology 60:1854-7. 2003
    ..Their results show that DM2 patients display a subpopulation of type 2 nuclear clump and other very small fibers and, hence, preferential type 2 fiber atrophy in contrast to type 1 fiber atrophy in DM1 patients...
  18. ncbi 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
    ....
  19. ncbi Distal myopathies
    B Udd
    Neuromuscular Unit, Vasa Central Hospital, Vasa and Department of Neurology, University of Tampere, Tampere, Finland
    Curr Opin Neurol 14:561-6. 2001
    ..Since most entities have been linked to specific chromosomal loci, it is likely that other distal myopathies will soon be better recognized by their molecular genetic definitions...
  20. doi Low prevalence of progranulin mutations in Finnish patients with frontotemporal lobar degeneration
    J Kruger
    Department of Neurology, University of Oulu, Oulu, Finland
    Eur J Neurol 16:27-30. 2009
    ..The frequency of these mutations varies between populations. The aim of this study was to determine mutations and genetic variations of the PGRN gene in Finnish patients with FTLD and FTLD with associated motor neuron disease (FTLD-MND)...
  21. ncbi 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...
  22. 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
    ....
  23. ncbi Haploinsuffciency for Znf9 in Znf9+/- mice is associated with multiorgan abnormalities resembling myotonic dystrophy
    Wei Chen
    Department of Cytokine Biology, The Forsyth Institute, Boston, MA 02115, USA
    J Mol Biol 368:8-17. 2007
    ..Znf9 transgenic mice raised Znf9 and Clc1 expression and rescued the myotonic dystrophy phenotype in Znf9+/- mice. Our results suggest that the Znf9 haploinsufficiency contributes to the myotonic dystrophy phenotype in Znf9+/- mice...
  24. ncbi 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...
  25. ncbi Myotilinopathy in a family with late onset myopathy
    Isabelle Pénisson-Besnier
    Departement de Neurologie, Centre Hospitalier Universitaire d Angers, 4 rue Larrey, 49033 Angers, France
    Neuromuscul Disord 16:427-31. 2006
    ..Extended morphological characteristics of muscle biopsy findings in myotilinopathy indicate that immunohistochemistry may be important for selection of molecular genetic approach in myofibrillar myopathy...
  26. ncbi Tibial muscular dystrophy in a Belgian family
    Peter Y K Van den Bergh
    Centre de Référence Neuromusculaire, Cliniques Universitaires St Luc, Universite Catholique de Louvain, Brussels, Belgium
    Ann Neurol 54:248-51. 2003
    ..This is the third mutation found in TMD and the second European family with TMD outside the Finnish population, suggesting that titinopathies may occur in various populations...
  27. ncbi Constitutive upregulations of titin-based signalling proteins in KY deficient muscles
    Jane Beatham
    MRC Mammalian Genetics Unit, Harwell OX11 0RD, UK
    Neuromuscul Disord 16:437-45. 2006
    ..Based on the role of this family as titin-based stress response molecules, it is suggested that titin structural/signalling instability is common to ky and titin mouse mutants and eccentric contractions...
  28. ncbi The kinase domain of titin controls muscle gene expression and protein turnover
    Stephan Lange
    Muscle Signalling and Development, Randall Division, King s College London, London SE1 1UL, UK
    Science 308:1599-603. 2005
    ..A human mutation in the titin protein kinase domain causes hereditary muscle disease by disrupting this pathway...
  29. ncbi Report of the 84th ENMC workshop: PROMM (proximal myotonic myopathy) and other myotonic dystrophy-like syndromes: 2nd workshop. 13-15th October, 2000, Loosdrecht, The Netherlands
    Richard T Moxley
    Department of Neurology, University of Rochester, Box 673, 601 Elmwood Avenue, Rochester, NY 14642, USA
    Neuromuscul Disord 12:306-17. 2002
  30. ncbi Welander distal myopathy outside the Swedish population: phenotype and genotype
    Desiree von Tell
    Department of Clinical Neuroscience, CMM L8 02, Karolinska Hospital, Stockholm, Sweden
    Neuromuscul Disord 12:544-7. 2002
    ....
  31. pmc Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect
    Linda L Bachinski
    Section of Cancer Genetics, Department of Molecular Genetics, University of Texas M D Anderson Cancer Center, Houston, TX 77030, USA
    Am J Hum Genet 73:835-48. 2003
    ..Taken together, these data suggest a single founding mutation in DM2 patients of European origin. We estimate the age of the founding haplotype and of the DM2 (CCTG) expansion mutation to be approximately 200-540 generations...
  32. ncbi [The kinase domain of titin controls muscle gene expression and protein turnover]
    Peter Hackman
    Folkhälsanin Tutkimuskeskus, Biomedicum Helsinki, Helsingin yliopisto
    Duodecim 121:1279-80. 2005
  33. ncbi Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene
    Rita Horvath
    Metabolic Diseases Centre, Munich Schwabing, Institutes of Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics, Academic Hospital Schwabing Munich, Germany
    Brain 129:1674-84. 2006
    ..1399G-->A (A467T) is common in children, but complete POLG1 sequencing is required to identify multiple mutations that can have complex implications for genetic counselling...
  34. doi Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band: implications for hereditary myopathies
    Atsushi Fukuzawa
    King s College London, The Randall Division for Cell and Molecular Biophysics, and Cardiovascular Division, New Hunt s House, London, UK
    J Cell Sci 121:1841-51. 2008
    ....
  35. doi Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation
    Marc Bartoli
    Genethon, CNRS FRE3018, Evry 91000, France
    Hum Mol Genet 17:1214-21. 2008
    ..This suggests a therapeutic approach for LGMD2D patients carrying mutations that impair alpha-sarcoglycan trafficking...
  36. ncbi [A new type of myotonic dystrophy]
    Satu Auvinen
    Ohio State University, Department of Molecular Virology, Immunology and Medical Genetics, Columbus, OH, USA
    Duodecim 119:707-13. 2003
  37. ncbi Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation
    Maria T Rantamäki
    Department of Physical Medicine and Rehabilitation, Seinajoki Central Hospital, Seinajoki, Finland
    Ann Neurol 58:337-40. 2005
    ..Our findings suggest that the 8993T-->C mtDNA mutation should be considered in the differential diagnosis of nondominant adult-onset ataxia and axonal neuropathy...