Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Jeanette Holmlund-Hampf"'
Autor:
Mark Screen, Olayinka Raheem, Jeanette Holmlund-Hampf, Per Harald Jonson, Sanna Huovinen, Peter Hackman, Bjarne Udd
Publikováno v:
PLoS ONE, Vol 9, Iss 3, p e90819 (2014)
Tibial muscular dystrophy (TMD) is a late onset, autosomal dominant distal myopathy that results from mutations in the two last domains of titin. The cascade of molecular events leading from the causative Titin mutations to the preterm death of muscl
Externí odkaz:
https://doaj.org/article/ef62755c369e405e9a25c3eb6f5e1f94
Autor:
Ralf Krahe, Anna Vihola, Shodimu Emmanuel Olufemi, Mario Sirito, Yi-Ping Li, Jeanette Holmlund-Hampf, Hannu Haapasalo, Bjarne Udd, Linda L. Bachinski, Olayinka Raheem
Publikováno v:
The American Journal of Pathology. 177:3025-3036
The mutation that underlies myotonic dystrophy type 2 (DM2) is a (CCTG)n expansion in intron 1 of zinc finger protein 9 (ZNF9). It has been suggested that ZNF9 is of no consequence for disease pathogenesis. We determined the expression levels of ZNF9
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb3dcc9625779201744b2a36fa20c795
https://doi.org/10.2353/ajpath.2010.100179
https://doi.org/10.2353/ajpath.2010.100179
Autor:
Olayinka Raheem, Anna Vihola, Anders Paetau, Jeanette Holmlund-Hampf, Shodimu-Emmanuel Olufemi, Giovanni Meola, Ralf Krahe, Lars Edström, Shohrae Hajibashi, Hannu Haapasalo, Bjarne Udd, Tiina Suominen, Keith A. Baggerly, Linda L. Bachinski, Rosanna Cardani, Hannu Kalimo, Mario Sirito
Publikováno v:
Acta Neuropathologica. 119:465-479
Aberrant transcription and mRNA processing of multiple genes due to RNA-mediated toxic gain-of-function has been suggested to cause the complex phenotype in myotonic dystrophies type 1 and 2 (DM1 and DM2). However, the molecular basis of muscle weakn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf3e9188c53005d71eb5d4f37486d4fc
https://doi.org/10.1007/s00401-010-0637-6
https://doi.org/10.1007/s00401-010-0637-6
Autor:
Per Harald Jonson, Mark Screen, Sanna Huovinen, Bjarne Udd, Peter Hackman, Olayinka Raheem, Jeanette Holmlund-Hampf
Publikováno v:
PLoS ONE
PLoS ONE, Vol 9, Iss 3, p e90819 (2014)
PLoS ONE, Vol 9, Iss 3, p e90819 (2014)
Tibial muscular dystrophy (TMD) is a late onset, autosomal dominant distal myopathy that results from mutations in the two last domains of titin. The cascade of molecular events leading from the causative Titin mutations to the preterm death of muscl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e81b2d4c100f553de906fa48734f36e6
http://hdl.handle.net/10138/160616
http://hdl.handle.net/10138/160616
Autor:
Jeanette Holmlund-Hampf, Hannu Haapasalo, Bjarne Udd, Anna Vihola, Ralf Krahe, Olayinka Raheem, Tiina Suominen
Publikováno v:
Neuromuscular Disorders. 16:670-671
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::12178606ce39bd48c1f473c97c6d2d04
https://doi.org/10.1016/j.nmd.2006.05.096
https://doi.org/10.1016/j.nmd.2006.05.096