Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Linda Mathisen"'
Autor:
Erle Kristensen, Linda Mathisen, Siren Berland, Claus Klingenberg, Eylert Brodtkorb, Magnhild Rasmussen, Trine Tangeraas, Yngve T. Bliksrud, Shamima Rahman, Laurence Albert Bindoff, Omar Hikmat
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 7, Pp 1819-1830 (2024)
Abstract Objective To investigate the prevalence and natural history of POLG disease in the Norwegian population. Methods A national, population‐based, retrospective study using demographic, clinical, and genetic data of patients with genetically c
Externí odkaz:
https://doaj.org/article/4a0c133097554238b0fa3d89ae495a19
Autor:
Juvianee I. Estrada-Veras, Eirik Frengen, Linda Mathisen, Liz Enyenihi, Hans Einar Treidene, Daniah Beleford, Yue Si, Ganka Douglas, Michelle Foreman, Jacque L. Duncan, Jennifer E. Hurtig, Anne Slavotinek, Erik-Jan Kamsteeg, Charlotte A. Haaxma, Sara W. Leung, Milo B. Fasken, Ambro van Hoof, Anita H. Corbett, Dina Schneidman-Duhovny, Stephanie Htun, Doriana Misceo, Maria C. Sterrett, Vivian Xia
Publikováno v:
Human Molecular Genetics, 29, 13, pp. 2218-2239
Hum Mol Genet
Human molecular genetics, vol 29, iss 13
Human Molecular Genetics, 29, 2218-2239
Hum Mol Genet
Human molecular genetics, vol 29, iss 13
Human Molecular Genetics, 29, 2218-2239
Contains fulltext : 225143.pdf (Publisher’s version ) (Closed access) The RNA exosome is an essential ribonuclease complex required for processing and/or degradation of both coding and non-coding RNAs. We identified five patients with biallelic var
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::619de630446be920565ee1a38cd9d0d6
https://doi.org/10.1093/hmg/ddaa108
https://doi.org/10.1093/hmg/ddaa108
Autor:
Yue Si, Eirik Frengen, Linda Mathisen, Ambro van Hoof, Daniah Beleford, Hans Einar Treidene, Michelle Foreman, Liz Enyenihi, Sara W. Leung, Anne Slavotinek, Stephanie Htun, Ganka Douglas, Juvianee I. Estrada-Veras, Jacque L. Duncan, Jennifer E. Hurtig, Doriana Misceo, Maria C. Sterrett, Vivian Xia, Anita H. Corbett, Dina Schneidman-Duhovny, Milo B. Fasken
The RNA exosome is an essential ribonuclease complex involved in the processing and degradation of both coding and noncoding RNAs. We present three patients with biallelic variants in EXOSC5, which encodes a structural subunit of the RNA exosome. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c95b9e06cfd6bad82401d0a25d8c1dd1
