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ATXN2 is a target of N-terminal proteolysis.
Chitre M, Emery P. Chitre M, et al. PLoS One. 2023 Dec 21;18(12):e0296085. doi: 10.1371/journal.pone.0296085. eCollection 2023. PLoS One. 2023. PMID: 38128014 Free PMC article.
Evolution of brain MRI lesions in paediatric myelin-oligodendrocyte glycoprotein antibody-associated disease (MOGAD) and its relevance to disease course.
Abdel-Mannan O, Champsas D, Tur C, Lee V, Manivannan S, Usman H, Skippen A, Desai I, Chitre M, Forsyth R, Kneen R, Ram D, Ramdas S, Rossor T, West S, Wright S, Palace J, Wassmer E, Hemingway C, Lim MJ, Mankad K, Ciccarelli O, Hacohen Y; UK-Childhood Neuroinflammatory Disease Network. Abdel-Mannan O, et al. Among authors: chitre m. J Neurol Neurosurg Psychiatry. 2024 Apr 12;95(5):426-433. doi: 10.1136/jnnp-2023-332542. J Neurol Neurosurg Psychiatry. 2024. PMID: 37979966
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Sanchis-Juan A, Megy K, Stephens J, Armirola Ricaurte C, Dewhurst E, Low K, French CE, Grozeva D, Stirrups K, Erwood M, McTague A, Penkett CJ, Shamardina O, Tuna S, Daugherty LC, Gleadall N, Duarte ST, Hedrera-Fernández A, Vogt J, Ambegaonkar G, Chitre M, Josifova D, Kurian MA, Parker A, Rankin J, Reid E, Wakeling E, Wassmer E, Woods CG; NIHR BioResource; Raymond FL, Carss KJ. Sanchis-Juan A, et al. Among authors: chitre m. Am J Hum Genet. 2023 Aug 3;110(8):1343-1355. doi: 10.1016/j.ajhg.2023.07.007. Am J Hum Genet. 2023. PMID: 37541188 Free PMC article.
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
Accogli A, Lin SJ, Severino M, Kim SH, Huang K, Rocca C, Landsverk M, Zaki MS, Al-Maawali A, Srinivasan VM, Al-Thihli K, Schaefer GB, Davis M, Tonduti D, Doneda C, Marten LM, Mühlhausen C, Gomez M, Lamantea E, Mena R, Nizon M, Procaccio V, Begtrup A, Telegrafi A, Cui H, Schulz HL, Mohr J, Biskup S, Loos MA, Aráoz HV, Salpietro V, Keppen LD, Chitre M, Petree C, Raymond L, Vogt J, Sawyer LB, Basinger AA, Pedersen SV, Pearson TS, Grange DK, Lingappa L, McDunnah P, Horvath R, Cognè B, Isidor B, Hahn A, Gripp KW, Jafarnejad SM, Østergaard E, Prada CE, Ghezzi D, Gowda VK, Taylor RW, Sonenberg N, Houlden H, Sissler M, Varshney GK, Maroofian R. Accogli A, et al. Among authors: chitre m. Genet Med. 2023 Nov;25(11):100938. doi: 10.1016/j.gim.2023.100938. Epub 2023 Jul 13. Genet Med. 2023. PMID: 37454282 Free article.
Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease.
Thompson K, Bianchi L, Rastelli F, Piron-Prunier F, Ayciriex S, Besmond C, Hubert L, Barth M, Barbosa IA, Deshpande C, Chitre M, Mehta SG, Wever EJM, Marcorelles P, Donkervoort S, Saade D, Bönnemann CG, Chao KR, Cai C, Iannaccone ST, Dean AF, McFarland R, Vaz FM, Delahodde A, Taylor RW, Rötig A. Thompson K, et al. Among authors: chitre m. HGG Adv. 2022 Mar 4;3(2):100097. doi: 10.1016/j.xhgg.2022.100097. eCollection 2022 Apr 14. HGG Adv. 2022. PMID: 35321494 Free PMC article.
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.
Zheng WQ, Pedersen SV, Thompson K, Bellacchio E, French CE, Munro B, Pearson TS, Vogt J, Diodato D, Diemer T, Ernst A, Horvath R, Chitre M, Ek J, Wibrand F, Grange DK, Raymond L, Zhou XL, Taylor RW, Ostergaard E. Zheng WQ, et al. Among authors: chitre m. Hum Mol Genet. 2022 Feb 21;31(4):523-534. doi: 10.1093/hmg/ddab257. Hum Mol Genet. 2022. PMID: 34508595
Use of Disease-Modifying Therapies in Pediatric Relapsing-Remitting Multiple Sclerosis in the United Kingdom.
Abdel-Mannan OA, Manchoon C, Rossor T, Southin JC, Tur C, Brownlee W, Byrne S, Chitre M, Coles A, Forsyth R, Kneen R, Mankad K, Ram D, West S, Wright S, Wassmer E, Lim M, Ciccarelli O, Hemingway C, Hacohen Y; UK-Childhood Inflammatory Disease Network. Abdel-Mannan OA, et al. Among authors: chitre m. Neurol Neuroimmunol Neuroinflamm. 2021 May 21;8(4):e1008. doi: 10.1212/NXI.0000000000001008. Print 2021 Jul. Neurol Neuroimmunol Neuroinflamm. 2021. PMID: 34021056 Free PMC article.
49 results