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Creation of de novo cryptic splicing for ALS/FTD precision medicine.
Wilkins OG, Chien MZYJ, Wlaschin JJ, Pisliakova M, Thompson D, Digby H, Simkin RL, Diaz JA, Mehta PR, Keuss MJ, Zanovello M, Brown AL, Harley P, Darbey A, Karda R, Fisher EMC, Cunningham TJ, Le Pichon CE, Ule J, Fratta P. Wilkins OG, et al. Among authors: harley p. bioRxiv [Preprint]. 2023 Nov 15:2023.11.15.565967. doi: 10.1101/2023.11.15.565967. bioRxiv. 2023. PMID: 38014203 Free PMC article. Preprint.
Modelling renal defects in Bardet-Biedl syndrome patients using human iPS cells.
Williams J, Hurling C, Munir S, Harley P, Machado CB, Cujba AM, Alvarez-Fallas M, Danovi D, Lieberam I, Sancho R, Beales P, Watt FM. Williams J, et al. Among authors: harley p. Front Cell Dev Biol. 2023 Jun 2;11:1163825. doi: 10.3389/fcell.2023.1163825. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 37333983 Free PMC article.
UNC13A in amyotrophic lateral sclerosis: from genetic association to therapeutic target.
Willemse SW, Harley P, van Eijk RPA, Demaegd KC, Zelina P, Pasterkamp RJ, van Damme P, Ingre C, van Rheenen W, Veldink JH, Kiernan MC, Al-Chalabi A, van den Berg LH, Fratta P, van Es MA. Willemse SW, et al. Among authors: harley p. J Neurol Neurosurg Psychiatry. 2023 Aug;94(8):649-656. doi: 10.1136/jnnp-2022-330504. Epub 2023 Feb 3. J Neurol Neurosurg Psychiatry. 2023. PMID: 36737245 Free PMC article. Review.
Optogenetic modeling of human neuromuscular circuits in Duchenne muscular dystrophy with CRISPR and pharmacological corrections.
Paredes-Redondo A, Harley P, Maniati E, Ryan D, Louzada S, Meng J, Kowala A, Fu B, Yang F, Liu P, Marino S, Pourquié O, Muntoni F, Wang J, Lieberam I, Lin YY. Paredes-Redondo A, et al. Among authors: harley p. Sci Adv. 2021 Sep 10;7(37):eabi8787. doi: 10.1126/sciadv.abi8787. Epub 2021 Sep 10. Sci Adv. 2021. PMID: 34516770 Free PMC article.
63 results