B Udd

Summary

Country: Finland

Publications

  1. ncbi request reprint 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
  2. doi request reprint 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
  3. ncbi request reprint 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
  4. doi request reprint High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany
    T Suominen
    University of Tampere, Neurogenetics, 33520 Tampere, Finland
    J Neurol 255:1731-6. 2008
  5. ncbi request reprint 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
  6. ncbi request reprint 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
  7. ncbi request reprint 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

Collaborators

Detail Information

Publications7

  1. ncbi request reprint 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...
  2. doi request reprint 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...
  3. ncbi request reprint 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...
  4. doi request reprint High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany
    T Suominen
    University of Tampere, Neurogenetics, 33520 Tampere, Finland
    J Neurol 255:1731-6. 2008
    ..DM2 patients with co-segregating CLCN1 mutation have an increased likelihood to be referred for molecular diagnostic testing compared to DM2 patients without co-segregating CLCN1 mutation...
  5. ncbi request reprint 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...
  6. ncbi request reprint 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
  7. ncbi request reprint 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