HEATR2 plays a conserved role in assembly of the ciliary motile apparatus von Diggle, Christine P, Moore, Daniel J, Mali, Girish, zur Lage, Petra, Ait-Lounis, Aouatef, Schmidts, Miriam, Shoemark, Amelia, Garcia Munoz, Amaya, Halachev, Mihail R, Gautier, Philippe, Yeyati, Patricia L, Bonthron, David T, Carr, Ian M, Hayward, Bruce, Markham, Alexander F, Hope, Jilly E, von Kriegsheim, Alex, Mitchison, Hannah M, Jackson, Ian J, Durand, Bénédicte, Reith, Walter, Sheridan, Eamonn, Jarman, Andrew P, Mill, Pleasantine

Volltext

Recapitulation of the EEF1A2 D252H neurodevelopmental disorder-causing missense mutation in mice reveals a toxic gain of function von Davies, Faith C J, Hope, Jilly E, McLachlan, Fiona, Marshall, Grant F, Kaminioti-Dumont, Laura, Qarkaxhija, Vesa, Nunez, Francis, Dando, Owen, Smith, Colin, Wood, Emma, MacDonald, Josephine, Hardt, Oliver, Abbott, Catherine M

Volltext

Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 mice von Davies, Faith C. J., Hope, Jilly E., McLachlan, Fiona, Nunez, Francis, Doig, Jennifer, Bengani, Hemant, Smith, Colin, Abbott, Catherine M.

Volltext

HEATR2 Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus: e1004577 von Diggle, Christine P, Moore, Daniel J, Mali, Girish, Lage, Petra zur, Ait-Lounis, Aouatef, Schmidts, Miriam, Shoemark, Amelia, Munoz, Amaya Garcia, Halachev, Mihail R, Gautier, Philippe, Yeyati, Patricia L, Bonthron, David T, Carr, Ian M, Hayward, Bruce, Markham, Alexander F, Hope, Jilly E, Kriegsheim, Alex von, Mitchison, Hannah M, Jackson, Ian J, Durand, Bénédicte, Reith, Walter, Sheridan, Eamonn, Jarman, Andrew P, Mill, Pleasantine

Volltext

Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development von Lise, Stefano, Clarkson, Yvonne, Perkins, Emma, Kwasniewska, Alexandra, Sadighi Akha, Elham, Schnekenberg, Ricardo Parolin, Suminaite, Daumante, Hope, Jilly, Baker, Ian, Gregory, Lorna, Green, Angie, Allan, Chris, Lamble, Sarah, Jayawant, Sandeep, Quaghebeur, Gerardine, Cader, M Zameel, Hughes, Sarah, Armstrong, Richard J E, Kanapin, Alexander, Rimmer, Andrew, Lunter, Gerton, Mathieson, Iain, Cazier, Jean-Baptiste, Buck, David, Taylor, Jenny C, Bentley, David, McVean, Gilean, Donnelly, Peter, Knight, Samantha J L, Jackson, Mandy, Ragoussis, Jiannis, Németh, Andrea H

Volltext

Recessive Mutations in SPTBN2 Implicate [beta]-III Spectrin in Both Cognitive and Motor Development von Lise, Stefano, Clarkson, Yvonne, Perkins, Emma, Kwasniewska, Alexandra, Akha, Elham Sadighi, Schnekenberg, Ricardo Parolin, Suminaite, Daumante, Hope, Jilly, Baker, Ian, Gregory, Lorna, Green, Angie, Allan, Chris, Lamble, Sarah, Jayawant, Sandeep, Quaghebeur, Gerardine, Cader, M Zameel, Hughes, Sarah, Armstrong, Richard JE, Kanapin, Alexander, Rimmer, Andrew, Lunter, Gerton, Mathieson, Iain, Cazier, Jean-Baptiste, Buck, David, Taylor, Jenny C, Bentley, David, McVean, Gilean, Donnelly, Peter, Knight, Samantha JL, Jackson, Mandy, Ragoussis, Jiannis, Németh, Andrea H

Volltext