Jones RA - Search Results

1

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.

2

Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy.

Hunter G, Powis RA, Jones RA, Groen EJ, Shorrock HK, Lane FM, Zheng Y, Sherman DL, Brophy PJ, Gillingwater TH. Hunter G, et al. Among authors: jones ra. Hum Mol Genet. 2016 Jul 1;25(13):2853-2861. doi: 10.1093/hmg/ddw141. Epub 2016 May 11. Hum Mol Genet. 2016. PMID: 27170316 Free PMC article.

3

NMJ-morph reveals principal components of synaptic morphology influencing structure-function relationships at the neuromuscular junction.

Jones RA, Reich CD, Dissanayake KN, Kristmundsdottir F, Findlater GS, Ribchester RR, Simmen MW, Gillingwater TH. Jones RA, et al. Open Biol. 2016 Dec;6(12):160240. doi: 10.1098/rsob.160240. Open Biol. 2016. PMID: 27927794 Free PMC article.

4

Correction to 'NMJ-morph reveals principal components of synaptic morphology influencing structure-function relationships at the neuromuscular junction'.

Jones RA, Reich CD, Dissanayake KN, Kristmundsdottir F, Findlater GS, Ribchester RR, Simmen MW, Gillingwater TH. Jones RA, et al. Open Biol. 2017 Jan;7(1):160335. doi: 10.1098/rsob.160335. Open Biol. 2017. PMID: 28100668 Free PMC article. No abstract available.

5

Confocal Endomicroscopy of Neuromuscular Junctions Stained with Physiologically Inert Protein Fragments of Tetanus Toxin.

Roesl C, Evans ER, Dissanayake KN, Boczonadi V, Jones RA, Jordan GR, Ledahawsky L, Allen GCC, Scott M, Thomson A, Wishart TM, Hughes DI, Mead RJ, Shone CC, Slater CR, Gillingwater TH, Skehel PA, Ribchester RR. Roesl C, et al. Among authors: jones ra. Biomolecules. 2021 Oct 12;11(10):1499. doi: 10.3390/biom11101499. Biomolecules. 2021. PMID: 34680132 Free PMC article.

6

Exclusive expression of MeCP2 in the nervous system distinguishes between brain and peripheral Rett syndrome-like phenotypes.

Ross PD, Guy J, Selfridge J, Kamal B, Bahey N, Tanner KE, Gillingwater TH, Jones RA, Loughrey CM, McCarroll CS, Bailey ME, Bird A, Cobb S. Ross PD, et al. Among authors: jones ra. Hum Mol Genet. 2016 Oct 15;25(20):4389-4404. doi: 10.1093/hmg/ddw269. Hum Mol Genet. 2016. PMID: 28173151 Free PMC article.

7

Motor neuron translatome reveals deregulation of SYNGR4 and PLEKHB1 in mutant TDP-43 amyotrophic lateral sclerosis models.

Marques RF, Engler JB, Küchler K, Jones RA, Lingner T, Salinas G, Gillingwater TH, Friese MA, Duncan KE. Marques RF, et al. Among authors: jones ra. Hum Mol Genet. 2020 Sep 29;29(16):2647-2661. doi: 10.1093/hmg/ddaa140. Hum Mol Genet. 2020. PMID: 32686835 Free PMC article.

8

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.

9

Terminal Schwann cells at the human neuromuscular junction.

Alhindi A, Boehm I, Forsythe RO, Miller J, Skipworth RJE, Simpson H, Jones RA, Gillingwater TH. Alhindi A, et al. Among authors: jones ra. Brain Commun. 2021 Apr 15;3(2):fcab081. doi: 10.1093/braincomms/fcab081. eCollection 2021. Brain Commun. 2021. PMID: 33977269 Free PMC article.

10

Long-term muscle-specific overexpression of DOK7 in mice using AAV9-tMCK-DOK7.

Huang YT, Crick HR, Chaytow H, van der Hoorn D, Alhindi A, Jones RA, Hector RD, Cobb SR, Gillingwater TH. Huang YT, et al. Among authors: jones ra. Mol Ther Nucleic Acids. 2023 Aug 2;33:617-628. doi: 10.1016/j.omtn.2023.07.036. eCollection 2023 Sep 12. Mol Ther Nucleic Acids. 2023. PMID: 37637210 Free PMC article.

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