Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Christina Semino-Mora"'
Autor:
Svetlana Litvak, Marinos C. Dalakas, Hee-Suk Lee, Victor J. Ferrans, Christina Semino-Mora, Kazuyo Takeda, Lev G. Goldfarb, Kye-Yoon Park
Publikováno v:
Clinical Genetics. 57:423-429
Desmin myopathy is a familial or sporadic disorder characterized by intracytoplasmic accumulation of desmin in the muscle cells. We and others have previously identified desmin gene mutations in patients with familial myopathy, but close to 45% of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0e866170d59256a486693d119184595f
https://doi.org/10.1034/j.1399-0004.2000.570604.x
https://doi.org/10.1034/j.1399-0004.2000.570604.x
Publikováno v:
Clinical Immunology. 94:99-104
We used reverse transcription-polymerase chain reaction to study the level of TGF-beta1 mRNA expression and immunocytochemistry to examine the immunoreactive TGF-beta1 in muscle biopsy specimens from five patients with dermatomyositis (DM) and five p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c8f0f022b8df3f6cec5384d348eedcb
https://doi.org/10.1006/clim.1999.4823
https://doi.org/10.1006/clim.1999.4823
Autor:
James W. Nagle, Kumaraswamy Sivakumar, Marinos C. Dalakas, Olavo M. Vasconcelos, Svetlana Gorokhova, Kye-Yoon Park, Larisa Cervenakova, Christina Semino-Mora, Hee-Suk Lee, Lev G. Goldfarb
Publikováno v:
Nature genetics. 19(4)
Desmin-related myopathy (OMIM 601419) is a familial disorder characterized by skeletal muscle weakness associated with cardiac conduction blocks, arrhythmias and restrictive heart failure, and by intracytoplasmic accumulation of desmin-reactive depos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b03385647e577f05690ba173d39e957
https://pubmed.ncbi.nlm.nih.gov/9697706
https://pubmed.ncbi.nlm.nih.gov/9697706