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PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.
Hall EA, Nahorski MS, Murray LM, Shaheen R, Perkins E, Dissanayake KN, Kristaryanto Y, Jones RA, Vogt J, Rivagorda M, Handley MT, Mali GR, Quidwai T, Soares DC, Keighren MA, McKie L, Mort RL, Gammoh N, Garcia-Munoz A, Davey T, Vermeren M, Walsh D, Budd P, Aligianis IA, Faqeih E, Quigley AJ, Jackson IJ, Kulathu Y, Jackson M, Ribchester RR, von Kriegsheim A, Alkuraya FS, Woods CG, Maher ER, Mill P. Hall EA, et al. Among authors: walsh d. Am J Hum Genet. 2017 May 4;100(5):706-724. doi: 10.1016/j.ajhg.2017.03.008. Epub 2017 Apr 13. Am J Hum Genet. 2017. PMID: 28413018 Free PMC article.
Germline FH mutations presenting with pheochromocytoma.
Clark GR, Sciacovelli M, Gaude E, Walsh DM, Kirby G, Simpson MA, Trembath RC, Berg JN, Woodward ER, Kinning E, Morrison PJ, Frezza C, Maher ER. Clark GR, et al. J Clin Endocrinol Metab. 2014 Oct;99(10):E2046-50. doi: 10.1210/jc.2014-1659. Epub 2014 Jul 8. J Clin Endocrinol Metab. 2014. PMID: 25004247
A Novel ABCA12 Mutation in Two Families with Congenital Ichthyosis.
Walsh DM, Shah SH, Simpson MA, Morgan NV, Khaliq S, Trembath RC, Mehdi SQ, Maher ER. Walsh DM, et al. Scientifica (Cairo). 2012;2012:649090. doi: 10.6064/2012/649090. Epub 2012 Dec 31. Scientifica (Cairo). 2012. PMID: 24278723 Free PMC article.
Addressing barriers and identifying facilitators to support informed consent and recruitment in the Cavernous malformations A Randomised Effectiveness (CARE) pilot phase trial: insights from the integrated QuinteT recruitment intervention (QRI).
Wade J, Farrar N, Realpe AX, Donovan JL, Forsyth L, Harkness KA, Hutchinson PJA, Kitchen N, Lewis SC, Loan JJM, Stephen J, Al-Shahi Salman R; CARE pilot trial collaboration. Wade J, et al. EClinicalMedicine. 2024 Apr 18;71:102557. doi: 10.1016/j.eclinm.2024.102557. eCollection 2024 May. EClinicalMedicine. 2024. PMID: 38813441 Free PMC article.
Two decades of patient advocacy.
Baker M, Craven A, Galvin O, Hawrot T, Newton A, Sipido E, Walsh D, Jaarsma J. Baker M, et al. Among authors: walsh d. Eur J Neurol. 2024 May 23:e16343. doi: 10.1111/ene.16343. Online ahead of print. Eur J Neurol. 2024. PMID: 38780314 Review.
2,802 results