Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Ivy Pin-Fang Chen"'
Autor:
Wardiya Afshar-Saber, Cidi Chen, Nicole A. Teaney, Kristina Kim, Ziqin Yang, Federico M. Gasparoli, Darius Ebrahimi-Fakhari, Elizabeth D. Buttermore, Ivy Pin-Fang Chen, Phillip L. Pearl, Mustafa Sahin
Publikováno v:
Stem Cell Research, Vol 77, Iss , Pp 103424- (2024)
Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) is an ultra-rare autosomal recessive neurometabolic disorder caused by ALDH5A1 mutations presenting with autism and epilepsy. Here, we report the generation and characterization of human induced
Externí odkaz:
https://doaj.org/article/3f29105d885d41a69adcd8bd9288c39b
Autor:
Julian Teinert, Robert Behne, Angelica D'Amore, Miriam Wimmer, Sean Dwyer, Teresa Chen, Elizabeth D. Buttermore, Ivy Pin-Fang Chen, Mustafa Sahin, Darius Ebrahimi-Fakhari
Publikováno v:
Stem Cell Research, Vol 40, Iss , Pp - (2019)
Bi-allelic variants in the subunits of the adaptor protein complex 4 lead to childhood-onset, complex hereditary spastic paraplegia (AP-4-HSP): SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1), and SPG52 (AP4S1). Here, we describe the generation of induce
Externí odkaz:
https://doaj.org/article/41717570b0b941e8bf0ac68810b4393e
Autor:
Irene Antony, Elizabeth D. Buttermore, Gerarda Cappuccio, Juan Cruz Casabona, Gareth Chapman, Ivy Pin-Fang Chen, Harue Chou, Laurence Daheron, Alfred K. Dei-Ampeh, Thomas M. Durcan, Sandra J. Engle, Patrick Faloon, Kevin T. FitzGerald, Deborah L. French, James Giordano, Madison R. Glass, Komal Kaushik, Robin J. Kleiman, Teun Klein Gunnewiek, Kristen L. Kroll, Felix A. Kyere, Herbert M. Lachman, Brooke Latour, Mirjana Maletic-Savatic, Xiaobo Mao, Abigail Mariga, Gilles Maussion, Kesavan Meganathan, Swati Mishra, Nael Nadif Kasri, Andrew Petersen, Luisa Pimentel, Ramachandran Prakasam, Aiko Robert, Cecilia Rocha, Manuj Shah, Jason L. Stein, Maria Sundberg, Rik Van Der Kant, Coen Van Deursen, Elisa A. Waxman, Samantha Wu, Mingyao Ying, Damian W. Young, Jessica E. Young
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::54858eaa91d9b0c887066db49c4fb4e5
https://doi.org/10.1016/b978-0-12-822277-5.01002-6
https://doi.org/10.1016/b978-0-12-822277-5.01002-6
Autor:
Miriam Wimmer, Mustafa Sahin, Henry Houlden, Elizabeth D. Buttermore, Joseph M. Scarrott, Antje Wiesener, Agathe Roubertie, Teresa Chen, Margaret S. Robinson, Sofia T. Duarte, Thomas Bourinaris, Robert Behne, Lee Barrett, Jonathan O. Lipton, Devorah Segal, James T. Bennett, Darius Ebrahimi-Fakhari, Jennifer Hirst, Julian Teinert, Andrea Martinuzzi, Kathrin Eberhardt, Angelica D'Amore, Filippo M. Santorelli, Barbara Brechmann, Georg H. H. Borner, Sean Dwyer, Ivy Pin-Fang Chen, Alexandra K Davies, Mimoun Azzouz
Publikováno v:
Hum Mol Genet
Deficiency of the adaptor protein complex 4 (AP-4) leads to childhood-onset hereditary spastic paraplegia (AP-4-HSP): SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1) and SPG52 (AP4S1). This study aims to evaluate the impact of loss-of-function variants i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72475bec4d66828ce338e15e047d9884
https://europepmc.org/articles/PMC7001721/
https://europepmc.org/articles/PMC7001721/
Autor:
Darius Ebrahimi-Fakhari, Mustafa Sahin, Julian Teinert, Sean Dwyer, Ivy Pin-Fang Chen, Miriam Wimmer, Teresa Chen, Robert Behne, Angelica D'Amore, Elizabeth D. Buttermore
Publikováno v:
Stem Cell Res
Stem Cell Research, Vol 53, Iss, Pp 102335-(2021)
Stem Cell Research, Vol 53, Iss, Pp 102335-(2021)
Biallelic loss-of-function variants in the subunits of the adaptor protein complex 4 lead to childhood-onset hereditary spastic paraplegia (AP-4-HSP): SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1), and SPG52 (AP4S1). Here, we describe the generation of