E
Eva Holmberg
Researcher at University of Gothenburg
Publications - 3
Citations - 237
Eva Holmberg is an academic researcher from University of Gothenburg. The author has contributed to research in topics: Nemaline myopathy & Actin. The author has an hindex of 3, co-authored 3 publications receiving 212 citations.
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Journal ArticleDOI
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
Michaela Yuen,Sarah A. Sandaradura,James J. Dowling,James J. Dowling,Alla S. Kostyukova,Natalia Moroz,Kate G. R. Quinlan,Vilma Lotta Lehtokari,Gianina Ravenscroft,Emily J. Todd,Ozge Ceyhan-Birsoy,David S. Gokhin,Jérome Maluenda,Monkol Lek,Monkol Lek,Flora Nolent,Christopher T. Pappas,Stefanie M. Novak,Adele D'Amico,Edoardo Malfatti,Brett Thomas,Brett Thomas,Stacey Gabriel,Namrata Gupta,Mark J. Daly,Mark J. Daly,Biljana Ilkovski,Peter J. Houweling,Peter J. Houweling,Ann E. Davidson,Ann E. Davidson,Lindsay C. Swanson,Catherine A. Brownstein,Vandana Gupta,Livija Medne,Patrick Shannon,Nicole Martin,David P. Bick,Anders Flisberg,Eva Holmberg,Peter Van den Bergh,Pablo Lapunzina,Leigh B. Waddell,Darcée D. Sloboda,Enrico Bertini,David Chitayat,William R. Telfer,Annie Laquerrière,Carol C. Gregorio,Coen A.C. Ottenheijm,Carsten G. Bönnemann,Katarina Pelin,Alan H. Beggs,Yukiko K. Hayashi,Norma B. Romero,Nigel G. Laing,Ichizo Nishino,Carina Wallgren-Pettersson,Judith Melki,Velia M. Fowler,Daniel G. MacArthur,Daniel G. MacArthur,Kathryn N. North,Kathryn N. North,Kathryn N. North,Nigel F. Clarke +65 more
TL;DR: It is demonstrated that mutations in the gene encoding L MOD3 underlie congenital myopathy and demonstrate that LMOD3 is essential for the organization of sarcomeric thin filaments in skeletal muscle.
Journal ArticleDOI
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy: corrigendum
Michaela Yuen,Sarah A. Sandaradura,James J. Dowling,Alla S. Kostyukova,Natalia Moroz,Kate G. R. Quinlan,Vilma-Lotta Lehtokari,Gianina Ravenscroft,Emily J. Todd,Ozge Ceyhan-Birsoy,David S. Gokhin,Jérome Maluenda,Monkol Lek,Flora Nolent,Christopher T. Pappas,Stefanie M. Novak,Adele D'Amico,Edoardo Malfatti,Brett Thomas,Stacey Gabriel,Namrata Gupta,Mark J. Daly,Biljana Ilkovski,Peter J. Houweling,Ann E. Davidson,Lindsay C. Swanson,Catherine A. Brownstein,Vandana Gupta,Livija Medne,Patrick Shannon,Nicole Martin,David P. Bick,Anders Flisberg,Eva Holmberg,Peter Van den Bergh,Pablo Lapunzina,Leigh B. Waddell,Darcée D. Sloboda,Enrico Bertini,David Chitayat,William R. Telfer,Annie Laquerrière,Carol C. Gregorio,Coen A.C. Ottenheijm,Carsten G. Bönnemann,Katarina Pelin,Alan H. Beggs,Yukiko K. Hayashi,Norma B. Romero,Nigel G. Laing,Ichizo Nishino,Carina Wallgren-Pettersson,Judith Melki,Velia M. Fowler,Daniel G. MacArthur,Kathryn N. North,Nigel F. Clarke +56 more
Journal ArticleDOI
Facial features in children with the 22q11 deletion syndrome.
TL;DR: To find a pattern of the most typical facial features in children with the 22q11 deletion syndrome, which could serve as an aid in identifying patients with the syndrome.