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Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy.
Powis RA, Karyka E, Boyd P, Côme J, Jones RA, Zheng Y, Szunyogova E, Groen EJ, Hunter G, Thomson D, Wishart TM, Becker CG, Parson SH, Martinat C, Azzouz M, Gillingwater TH. Powis RA, et al. Among authors: jones ra. JCI Insight. 2016 Jul 21;1(11):e87908. doi: 10.1172/jci.insight.87908. JCI Insight. 2016. PMID: 27699224 Free PMC article.
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: jones ra. 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.
Viral delivery of C9orf72 hexanucleotide repeat expansions in mice leads to repeat-length-dependent neuropathology and behavioural deficits.
Herranz-Martin S, Chandran J, Lewis K, Mulcahy P, Higginbottom A, Walker C, Valenzuela IMY, Jones RA, Coldicott I, Iannitti T, Akaaboune M, El-Khamisy SF, Gillingwater TH, Shaw PJ, Azzouz M. Herranz-Martin S, et al. Among authors: jones ra. Dis Model Mech. 2017 Jul 1;10(7):859-868. doi: 10.1242/dmm.029892. Epub 2017 May 26. Dis Model Mech. 2017. PMID: 28550099 Free PMC article.
Cellular and Molecular Anatomy of the Human Neuromuscular Junction.
Jones RA, Harrison C, Eaton SL, Llavero Hurtado M, Graham LC, Alkhammash L, Oladiran OA, Gale A, Lamont DJ, Simpson H, Simmen MW, Soeller C, Wishart TM, Gillingwater TH. Jones RA, et al. Cell Rep. 2017 Nov 28;21(9):2348-2356. doi: 10.1016/j.celrep.2017.11.008. Cell Rep. 2017. PMID: 29186674 Free PMC article.
Neuromuscular junctions are stable in patients with cancer cachexia.
Boehm I, Miller J, Wishart TM, Wigmore SJ, Skipworth RJ, Jones RA, Gillingwater TH. Boehm I, et al. Among authors: jones ra. J Clin Invest. 2020 Mar 2;130(3):1461-1465. doi: 10.1172/JCI128411. J Clin Invest. 2020. PMID: 31794435 Free PMC article. Clinical Trial.
aNMJ-morph: a simple macro for rapid analysis of neuromuscular junction morphology.
Minty G, Hoppen A, Boehm I, Alhindi A, Gibb L, Potter E, Wagner BC, Miller J, Skipworth RJE, Gillingwater TH, Jones RA. Minty G, et al. Among authors: jones ra. R Soc Open Sci. 2020 Apr 15;7(4):200128. doi: 10.1098/rsos.200128. eCollection 2020 Apr. R Soc Open Sci. 2020. PMID: 32431902 Free PMC article.
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