Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Jonathan G.L. Mullins"'
Autor:
Ann J. Johnston, Jing-Qiong Kang, Wangzhen Shen, William O. Pickrell, Thomas D. Cushion, Jeffrey S. Davies, Kristin Baer, Jonathan G.L. Mullins, Carrie L. Hammond, Seo-Kyung Chung, Rhys H. Thomas, Cathy White, Phil E.M. Smith, Robert L. Macdonald, Mark I. Rees
Publikováno v:
Neurobiology of Disease, Vol 64, Iss , Pp 131-141 (2014)
Genetic mutations in voltage-gated and ligand-gated ion channel genes have been identified in a small number of Mendelian families with genetic generalised epilepsies (GGEs). They are commonly associated with febrile seizures (FS), childhood absence
Externí odkaz:
https://doaj.org/article/dc9b7994a81047c3aaaafe890e39676e
Autor:
Ahmed H. Al-Amri, Paul Armstrong, Mascia Amici, Clemence Ligneul, James Rouse, Mohammed E. El-Asrag, Andreea Pantiru, Valerie E. Vancollie, Hannah W.Y. Ng, Jennifer A. Ogbeta, Kirstie Goodchild, Jacob Ellegood, Christopher J. Lelliott, Jonathan G.L. Mullins, Amanda Bretman, Ruslan Al-Ali, Christian Beetz, Lihadh Al-Gazali, Aisha Al Shamsi, Jason P. Lerch, Jack R. Mellor, Abeer Al Sayegh, Manir Ali, Chris F. Inglehearn, Steven J. Clapcote
Publikováno v:
Al-Amri, A H, Armstrong, P, Amici, M, Ligneul, C, Mellor, J R & Clapcote, S J 2022, ' PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice and Fruit Flies ', Biological Psychiatry, vol. 92, no. 4, pp. 323-334 . https://doi.org/10.1016/j.biopsych.2021.12.017
BackgroundThe discovery of coding variants in genes that confer risk of intellectual disability (ID) is an important step toward understanding the pathophysiology of this common developmental disability.MethodsHomozygosity mapping, whole-exome sequen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8c438ba4555785a1f1213cff239036c
https://cronfa.swan.ac.uk/Record/cronfa59175/Download/59175__23886__9c4736e50fd24c30adbf62bd8435ff6d.pdf
https://cronfa.swan.ac.uk/Record/cronfa59175/Download/59175__23886__9c4736e50fd24c30adbf62bd8435ff6d.pdf
