Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Natasha Demic"'
Autor:
Cathrine Goberg Olsen, Øyvind Løvold Busk, Tori Navestad Aanjesen, Karl Bjørnar Alstadhaug, Ingrid Kristine Bjørnå, Geir Julius Braathen, Kristin Lif Breivik, Natasha Demic, Heidi Øyen Flemmen, Erika Hallerstig, Ineke HogenEsch, Øystein Lunde Holla, Anne Berit Jøntvedt, Margitta T. Kampman, Grethe Kleveland, Helene Ballo Kvernmo, Unn Ljøstad, Angelina Maniaol, Åse Hagen Morsund, Ola Nakken, Camilla Novy, Tiina Rekand, Katrin Schlüter, Stephan Schüler, Kristian Tveten, Ole-Bjørn Tysnes, Trygve Holmøy, Helle Høyer
Publikováno v:
Neuroepidemiology
Background: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects motor neurons. In Europe, disease-causing genetic variants have been identified in 40–70% of familial ALS patients and approximately 5% of sporadic ALS pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d9014ee07cbbab9984c2aabf99aa3f7
http://hdl.handle.net/10852/95034
http://hdl.handle.net/10852/95034
Autor:
Calvin Soh, Sophie Calvert, Ram L. Kumar, Isabelle Desguerre, Kevin Talbot, Evangeline Wassmer, Axel Panzer, Andrea Berger, Anna de Burca, Anu Jacob, Andrea Whitney, Andrew P. Badrock, Frances Gibbon, Shelley MacDonald, Rhys H. Thomas, Reza Maroofian, Heather Burnett, Elizabeth Jones, Thomas Blauwblomme, Francois V. Bolduc, Jamal Ghoumid, Mickaël Ferrand, Yanick J. Crow, Emma M. Jenkinson, Camilo Toro, Diana Chiang, Roseline Caumes, Gillian I. Rice, Gemma Fisher, Gopinath M. Subramanian, Edoardo Monfrini, Renaud Touraine, Hilde T. Hilmarsen, Sarju G. Mehta, Imelda Hughes, Sumit Parikh, Edward Blair, Mary O'Driscoll, Sarah Dyack, Himanshu Goel, Kristin W. Barañano, Prab Prabhakar, Luis Seabra, Roberta Battini, John H. Livingston, Russell P. Saneto, Richard J. Leventer, Katrin Õunap, Heather Marshall, Andy Cheuk Him Ng, Duccio Maria Cordelli, Natasha Demic, Daniela Neumann, Natalie Boddaert, Michael J. Noetzel, S. Richard Dunham, Ehsan Ghayoor Karimiani, Johannes A. Buckard, Frances Elmslie, Raymond T. O'Keefe, Chloe A Stutterd, Richard Sandford, Imke Metz, Francis Ramond, Liesbeth De Waele, Alessio Di Fonzo, Emma Wakeling, David B. Clifford
Biallelic mutations in SNORD118, encoding the small nucleolar RNA U8, cause leukoencephalopathy with calcifications and cysts (LCC). Given the difficulty in interpreting the functional consequences of variants in nonprotein encoding genes, and the hi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f2d9de564df3de6329454df9c446972
http://hdl.handle.net/11585/786787
http://hdl.handle.net/11585/786787