Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Birgitta Hedberg"'
Autor:
Birgitta Hedberg, Shi-Jin Zhang, Johanna Balogh, Håkan Westerblad, Anna Kostareva, Thomas Sejersen, Joseph D. Bruton, A Gudkova, Gunnar Sjöberg, Lars Edström
Publikováno v:
Journal of Muscle Research and Cell Motility. 29:25-36
Desmin mutations underlie inherited myopathies/cardiomyopathies with varying severity and involvement of the skeletal and cardiac muscles. We developed a transgenic mouse model expressing low level of the L345P desmin mutation (DESMUT mice) in order
Publikováno v:
Acta Neurologica Scandinavica. 112:223-227
Objectives – To characterise a Swedish family with a rare hereditary myopathy with unique sarcoplasmic inclusion bodies in the muscle biopsy. Materials and methods – Part of the pedigree was described in 1980. Nine new members of the included and
Autor:
Jakob Kristensen, Fengqing Xiang, Anna Vihola, Thomas Sejersen, Mathias Gautel, Sylvie Marchand, Gereon Franzen, Elisabeth Ehler, Lars Edström, Elena Rostkova, Birgit Brandmeier, Bjarne Udd, Stephan Lange, Isabelle Richard, Lars-Gunnar Gunnarsson, Birgitta Hedberg, Peter Hackman, Andrey Yakovenko, Simon M. Hughes
Publikováno v:
Science. 308:1599-1603
The giant sarcomeric protein titin contains a protein kinase domain (TK) ideally positioned to sense mechanical load. We identified a signaling complex where TK interacts with the zinc-finger protein nbr1 through a mechanically inducible conformation
Publikováno v:
European Journal of Neurology. 6:341-346
Myotonic dystrophy (DM) is an autosomal dominant, multisystemic disorder with a variable phenotypic expression including muscle weakness and myotonia. The muscle wasting is most marked in distal limbs and in facial and neck muscles, although proximal
Publikováno v:
Neuromuscular Disorders. 3:149-155
In seven patients with long-standing and six patients with early symptoms of Welander distal myopathy (WDM), monoclonal antibodies directed against such cytoskeletal proteins as dystrophin, spectrin and desmin and against Leu-19, a myoblast and satel
Publikováno v:
Human Molecular Genetics. 2:1397-1400
The discovery that there is an expansion of a CTG repeat underlying myotonic dystrophy has led to new approaches in diagnosis and genetic counselling for this disorder. The size of the expansion correlates to a reasonable degree with the clinical sym
Publikováno v:
Biochemical and biophysical research communications. 286(5)
Myotonic dystrophy 1 is caused by the expansion of a CTG trinucleotide repeat on chromosome 19q13.3. The repeat lies in the 3′ untranslated region of the myotonic dystrophy protein kinase gene ( DMPK ), and it has been hypothesised that the expansi
Publikováno v:
Neuromuscular disorders : NMD. 7(3)
Myotonic dystrophy (DM) is associated with an unstable expansion of CTG repeats located in the 3' untranslated region of a protein kinase-encoding gene (DMPK) on chromosome 19 (19q13.3). The CTG repeat number varies between 5 and 37 in lymphocytes of
Autor:
Birgitta Hedberg, Fengqing Xiang, Lars Edström, Gabrielle Åhlberg, Martin Engvall, Helena Stibler, Tor Ansved
Publikováno v:
Neuromuscular Disorders. 16:690
Autor:
Gunnar Sjöberg, Joseph Bruton, Shi-Jin Zhang, Johanna Balogh, Alexandra Gudkova, Birgitta Hedberg, Lars Edström, Håkan Westerblad, Thomas Sejersen
Publikováno v:
Journal of Muscle Research & Cell Motility; Jan2008, Vol. 29 Issue 1, p25-36, 12p