B
Bjarne Udd
Researcher at University of Helsinki
Publications - 292
Citations - 12924
Bjarne Udd is an academic researcher from University of Helsinki. The author has contributed to research in topics: Myopathy & Muscular dystrophy. The author has an hindex of 58, co-authored 271 publications receiving 11299 citations. Previous affiliations of Bjarne Udd include UCL Institute of Neurology & University of Rochester Medical Center.
Papers
More filters
Journal ArticleDOI
The Kinase Domain of Titin Controls Muscle Gene Expression and Protein Turnover
Stephan Lange,Fengqing Xiang,Andrey Yakovenko,Anna Vihola,Peter Hackman,Elena Rostkova,Jakob Kristensen,Birgit Brandmeier,Gereon Franzen,Birgitta Hedberg,Lars-Gunnar Gunnarsson,Simon M. Hughes,Sylvie Marchand,Thomas Sejersen,Isabelle Richard,Lars Edström,Elisabeth Ehler,Bjarne Udd,Mathias Gautel +18 more
TL;DR: In this paper, a protein kinase domain (TK) was identified where TK interacts with the zinc-finger protein nbr1 through a mechanically inducible conformation.
Journal ArticleDOI
Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin
Peter Hackman,Anna Vihola,Henna Haravuori,Sylvie Marchand,Jaakko Sarparanta,Jerome de Seze,Siegfried Labeit,Christian Witt,Leena Peltonen,Isabelle Richard,Bjarne Udd +10 more
TL;DR: Immunohistochemical analysis using two exon-specific antibodies directed to the M-line region of titin demonstrated the specific loss of carboxy-terminal titin epitopes in the TMD muscle samples that were studied, thus implicating a functional defect of theM-line titin in the genesis of the T MD disease phenotype.
Journal ArticleDOI
The myotonic dystrophies: molecular, clinical, and therapeutic challenges
Bjarne Udd,Ralf Krahe +1 more
TL;DR: Despite clinical and genetic similarities, myotonic dystrophy type 1 and type 2 are distinct disorders requiring different diagnostic and management strategies.
Journal ArticleDOI
Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene
Rita Horvath,Gavin Hudson,Gianfrancesco Ferrari,N Futterer,Sofia Ahola,Eleonora Lamantea,Holger Prokisch,Hanns Lochmüller,Robert McFarland,Ramesh,Thomas Klopstock,Peter Freisinger,Fabrizio Salvi,Johannes A. Mayr,Roger D. Santer,Marketa Tesarova,Jiri Zeman,Bjarne Udd,Robert W. Taylor,Douglass M. Turnbull,Michael G. Hanna,Doreen Fialho,Anu Suomalainen,M Zeviani,Patrick F. Chinnery +24 more
TL;DR: POLGI was sequenced in patients from different European diagnostic and research centres to define the phenotypic spectrum and advance understanding of the recurrence risks and identify multiple mutations that can have complex implications for genetic counselling.
Journal Article
Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene. Commentary
Salvatore DiMauro,Guido Davidzon,Michio Hirano,Rita Horvath,Gavin Hudson,Gianfrancesco Ferrari,Nancy Fütterer,Sofia Ahola,Eleonora Lamantea,Holger Prokisch,Hanns Lochmüller,Robert McFarland,Venkateswaran Ramesh,Thomas Klopstock,Peter Freisinger,Fabrizio Salvi,Johannes A Mayr,René Santer,Marketa Tesarova,Jiri Zeman,Bjarne Udd,Robert W. Taylor,Douglass M. Turnbull,Michael G. Hanna,Doreen Fialho,Anu Suomalainen,Massimo Zeviani,Patrick F. Chinnery +27 more
TL;DR: In this article, DNA sequence changes were identified, including 2 predicted to alter a splice site, I predicted to cause a premature stop codon and 13 predicted to causing novel amino acid substitutions.