Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Khema Liyanage"'
Autor:
Elizabeth M. Petty, Marianne de Visser, Ralf Herrmann, Khema Liyanage, Danielle E. Dye, Peter Hedera, Thomas Voit, Rachael M. Duff, Phillipa J. Lamont, Christopher Meredith, Nigel G. Laing, Frank L. Mastaglia, Vicki Fabian, John K. Fink, Cheryl Parry, Maaike M. van der Graaff, Kaye Beckman, Leslie R. Bridges, Hayley J. Durling
Publikováno v:
American journal of human genetics, 75(4), 703-708. Cell Press
American Journal of Human Genetics, 75(4), 703-708. Cell Press
American Journal of Human Genetics, 75(4), 703-708. Cell Press
We previously linked Laing-type early-onset autosomal dominant distal myopathy (MPD1) to a 22-cM region of chromosome 14. One candidate gene in the region, MYH7, which is mutated in cardiomyopathy and myosin storage myopathy, codes for the myosin hea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abce98688fdca3539dbce92b5aa3e68f
Autor:
Khema Liyanage, Wim Robberecht, Chantal Ceuterick-de Groote, Bénédicte Dubois, Raphael Sciot, Danielle E. Dye, J. J. Martin, Heike Goebel, Rachael M. Duff, Nigel G. Laing
Publikováno v:
Neurology
Myosin storage myopathy is a congenital myopathy characterized by subsarcolemmal hyaline bodies in type 1 muscle fibers, which are ATPase positive and thus contain myosin. Mutations recently were identified in the type 1 muscle fiber myosin gene (MYH
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82c567f2ad1fc824ed2a9b3604662eb2
https://hdl.handle.net/10067/514280151162165141
https://hdl.handle.net/10067/514280151162165141
Autor:
Ichizo Nishino, Nigel F. Clarke, Khema Liyanage, Danielle E. Dye, Robert A. Ouvrier, Ikuya Nonaka, Kathryn N. North, Nigel G. Laing, Shuichi Shimakawa, K.R. Walker, Tohru Hagiwara, John C. Sparrow, Yasuaki Kobayashi
Publikováno v:
Annals of neurology. 56(5)
We report three heterozygous missense mutations of the skeletal muscle alpha actin gene (ACTA1) in three unrelated cases of congenital fiber type disproportion (CFTD) from Japan and Australia. This represents the first genetic cause of CFTD to be ide
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bd4b32b2037ff75e83065a1bb22296e
https://pubmed.ncbi.nlm.nih.gov/15468086
https://pubmed.ncbi.nlm.nih.gov/15468086
Autor:
Nigel G. Laing, Nigel F. Clarke, Danielle E. Dye, Khema Liyanage, Kendall R. Walker, Yasuaki Kobayashi, Shuichi Shimakawa, Tohru Hagiwara, Robert Ouvrier, John C. Sparrow, Ichizo Nishino, Kathryn N. North, Ikuya Nonaka
Publikováno v:
Annals of Neurology; Nov2004, Vol. 56 Issue 5, p689-694, 6p