Research Topics
Species | B UddSummaryCountry: Finland Publications
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Publications
Molecular biology of distal muscular dystrophies--sarcomeric proteins on topBjarne Udd
Department of Neurology, Tampere University Hospital and Vasa Central Hospital, University of Tampere Medical Scool, Finland
Biochim Biophys Acta 1772:145-58. 2007....
The myotonic dystrophies: molecular, clinical, and therapeutic challengesBjarne 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...- Distal myopathies--new genetic entities expand diagnostic challengeBjarne Udd
Neuromuscular Research Center, Tampere University and University Hospital, Tampere, Finland
Neuromuscul Disord 22:5-12. 2012.... - Report of the 115th ENMC workshop: DM2/PROMM and other myotonic dystrophies. 3rd Workshop, 14-16 February 2003, Naarden, The NetherlandsB Udd
Neurology Department, Vasa Central Hospital, 65130 Vasa, Finland
Neuromuscul Disord 13:589-96. 2003 - 140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on managementB Udd
Neurology Department, Tampere University Hospital and Tampere Medical School, Finland
Neuromuscul Disord 16:403-13. 2006 - Genetics and pathogenesis of distal muscular dystrophiesBjarne 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... - 104th European Neuromuscular Centre (ENMC) International Workshop: distal myopathies, 8-10th March 2002 in Naarden, The NetherlandsB Udd
Neurological Department, Vasa Central Hospital, 65130, Vasa, Finland
Neuromuscul Disord 12:897-904. 2002 - Distal muscular dystrophiesBjarne 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... - Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2JB Udd
Neurological Department, Vaasa Central Hospital, Finland
Neurology 64:636-42. 2005.... - Tibial muscular dystrophy--from clinical description to linkage on chromosome 2q31B 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... - A distinct phenotype of distal myopathy in a large Finnish familyI 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... - Late-onset lower motor neuronopathy: a new autosomal dominant disorderM 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... - Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5S 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... - 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... - Muscle magnetic resonance imaging shows distinct diagnostic patterns in Welander and tibial muscular dystrophyI Mahjneh
Department of Neurology, University of Oulu, Oulu, Finland
Acta Neurol Scand 110:87-93. 2004.... - Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2A 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... - Enrichment of the R77C alpha-sarcoglycan gene mutation in Finnish LGMD2D patientsP Hackman
Folkhälsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Biomedicum, Helsinki, Finland
Muscle Nerve 31:199-204. 2005.... - Distal myopathiesB 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... - Low prevalence of progranulin mutations in Finnish patients with frontotemporal lobar degenerationJ 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)... - Distal myopathy caused by homozygous missense mutations in the nebulin geneCarina 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... 
Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titinPeter Hackman
Department of Medical Genetics and The Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland
Am J Hum Genet 71:492-500. 2002....- Haploinsuffciency for Znf9 in Znf9+/- mice is associated with multiorgan abnormalities resembling myotonic dystrophyWei 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... - Myotilinopathy in a family with late onset myopathyIsabelle 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... - 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... - Tibial muscular dystrophy in a Belgian familyPeter 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... - Constitutive upregulations of titin-based signalling proteins in KY deficient musclesJane 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... - Report of the 84th ENMC workshop: PROMM (proximal myotonic myopathy) and other myotonic dystrophy-like syndromes: 2nd workshop. 13-15th October, 2000, Loosdrecht, The NetherlandsRichard T Moxley
Department of Neurology, University of Rochester, Box 673, 601 Elmwood Avenue, Rochester, NY 14642, USA
Neuromuscul Disord 12:306-17. 2002 - Welander distal myopathy outside the Swedish population: phenotype and genotypeDesiree von Tell
Department of Clinical Neuroscience, CMM L8 02, Karolinska Hospital, Stockholm, Sweden
Neuromuscul Disord 12:544-7. 2002.... - The kinase domain of titin controls muscle gene expression and protein turnoverStephan 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... - 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 effectLinda 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... - [The kinase domain of titin controls muscle gene expression and protein turnover]Peter Hackman
, Biomedicum Helsinki, Helsingin yliopisto
Duodecim 121:1279-80. 2005 - Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band: implications for hereditary myopathiesAtsushi 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.... - Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutationMarc 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... - Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma geneRita 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... - [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 - Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutationMaria 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...