Developing antisense oligonucleotides for a TECPR2 mutation-induced, ultra-rare neurological disorder using patient-derived cellular models

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; OMIM: 615031). Little is known about the biologica...

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Prif Awduron: Luis A. Williams (Awdur), David J. Gerber (Awdur), Amy Elder (Awdur), Wei Chou Tseng (Awdur), Valeriya Baru (Awdur), Nathaniel Delaney-Busch (Awdur), Christina Ambrosi (Awdur), Gauri Mahimkar (Awdur), Vaibhav Joshi (Awdur), Himali Shah (Awdur), Karthiayani Harikrishnan (Awdur), Hansini Upadhyay (Awdur), Sakthi H. Rajendran (Awdur), Aishwarya Dhandapani (Awdur), Joshua Meier (Awdur), Steven J. Ryan (Awdur), Caitlin Lewarch (Awdur), Lauren Black (Awdur), Julie Douville (Awdur), Stefania Cinquino (Awdur), Helen Legakis (Awdur), Karsten Nalbach (Awdur), Christian Behrends (Awdur), Ai Sato (Awdur), Lorenzo Galluzzi (Awdur), Timothy W. Yu (Awdur), Duncan Brown (Awdur), Sudhir Agrawal (Awdur), David Margulies (Awdur), Alan Kopin (Awdur), Graham T. Dempsey (Awdur)
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Cyhoeddwyd: Elsevier, 2022-09-01T00:00:00Z.
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