Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Sakthi H, Rajendran"'
Autor:
Luis A. Williams, David J. Gerber, Amy Elder, Wei Chou Tseng, Valeriya Baru, Nathaniel Delaney-Busch, Christina Ambrosi, Gauri Mahimkar, Vaibhav Joshi, Himali Shah, Karthiayani Harikrishnan, Hansini Upadhyay, Sakthi H. Rajendran, Aishwarya Dhandapani, Joshua Meier, Steven J. Ryan, Caitlin Lewarch, Lauren Black, Julie Douville, Stefania Cinquino, Helen Legakis, Karsten Nalbach, Christian Behrends, Ai Sato, Lorenzo Galluzzi, Timothy W. Yu, Duncan Brown, Sudhir Agrawal, David Margulies, Alan Kopin, Graham T. Dempsey
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 29, Iss , Pp 189-203 (2022)
Mutations in the TECPR2 gene are the cause of an ultra-rare neurological disorder characterized by intellectual disability, impaired speech, motor delay, and hypotonia evolving to spasticity, central sleep apnea, and premature death (SPG49 or HSAN9;
Externí odkaz:
https://doaj.org/article/555fd4156baf47509e8e7211947eb238
Autor:
Luis A, Williams, David J, Gerber, Amy, Elder, Wei Chou, Tseng, Valeriya, Baru, Nathaniel, Delaney-Busch, Christina, Ambrosi, Gauri, Mahimkar, Vaibhav, Joshi, Himali, Shah, Karthiayani, Harikrishnan, Hansini, Upadhyay, Sakthi H, Rajendran, Aishwarya, Dhandapani, Joshua, Meier, Steven J, Ryan, Caitlin, Lewarch, Lauren, Black, Julie, Douville, Stefania, Cinquino, Helen, Legakis, Karsten, Nalbach, Christian, Behrends, Ai, Sato, Lorenzo, Galluzzi, Timothy W, Yu, Duncan, Brown, Sudhir, Agrawal, David, Margulies, Alan, Kopin, Graham T, Dempsey
Publikováno v:
Molecular therapy. Nucleic acids. 29
Mutations in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0f46faf63abd1f4135c97b4442e9dca4
https://pubmed.ncbi.nlm.nih.gov/35860385
https://pubmed.ncbi.nlm.nih.gov/35860385