Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Kathy HC Wu"'
Autor:
Ryan L Davis, Deborah Schofield, Carolyn M Sue, Sulev Koks, Christine Klein, George D Mellick, Stephen Tisch, Victor SC Fung, Kishore R Kumar, Laura I Rudaks, Luis M Garcia-Marin, Miguel E Rentería, Hugo Morales-Briceno, Mary-Anne Young, Dennis Yeow, Victor Flores-Ocampo, Wai Y Yau, Kathy HC Wu, Amanda M Willis
Publikováno v:
BMJ Neurology Open, Vol 6, Iss Suppl 1 (2024)
Externí odkaz:
https://doaj.org/article/71cbcbd669834ab0ba75e45e7cc8a6a5
Autor:
Haloom Rafehi, Justin Read, David J. Szmulewicz, Kayli C. Davies, Penny Snell, Liam G. Fearnley, Liam Scott, Mirja Thomsen, Greta Gillies, Kate Pope, Mark F. Bennett, Jacob E. Munro, Kathie J. Ngo, Luke Chen, Mathew J. Wallis, Ernest G. Butler, Kishore R. Kumar, Kathy HC. Wu, Susan E. Tomlinson, Stephen Tisch, Abhishek Malhotra, Matthew Lee-Archer, Egor Dolzhenko, Michael A. Eberle, Leslie J. Roberts, Brent L. Fogel, Norbert Brüggemann, Katja Lohmann, Martin B. Delatycki, Melanie Bahlo, Paul J. Lockhart
Publikováno v:
Am J Hum Genet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f2ce1a54ab6a28d5b8c22400a3dfae7
https://doi.org/10.1016/j.ajhg.2022.11.015
https://doi.org/10.1016/j.ajhg.2022.11.015
Autor:
Haloom Rafehi, Justin Read, David J Szmulewicz, Kayli C. Davies, Penny Snell, Liam G Fearnley, Liam Scott, Mirja Thomsen, Greta Gillies, Kate Pope, Mark F Bennett, Jacob E Munro, Kathie J. Ngo, Luke Chen, Mathew J Wallis, Ernest G Butler, Kishore R Kumar, Kathy HC Wu, Susan E Tomlinson, Stephen Tisch, Abhishek Malhotra, Matthew Lee-Archer, Egor Dolzhenko, Michael A. Eberle, Leslie J Roberts, Brent L Fogel, Norbert Brüggemann, Katja Lohmann, Martin B. Delatycki, Melanie Bahlo, Paul J Lockhart
Adult-onset cerebellar ataxias are a group of neurodegenerative conditions that challenge both genetic discovery and molecular diagnosis. In this study, we identified a novel intronic GAA repeat expansion in the gene encoding Fibroblast Growth Factor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6bc48b7503322811a8b3b992e80c2acb
https://doi.org/10.1101/2022.10.21.22281020
https://doi.org/10.1101/2022.10.21.22281020
