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19 results

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Page 1
Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation.
Choquet K, Yang S, Moir RD, Forget D, Larivière R, Bouchard A, Poitras C, Sgarioto N, Dicaire MJ, Noohi F, Kennedy TE, Rochford J, Bernard G, Teichmann M, Coulombe B, Willis IM, Kleinman CL, Brais B. Choquet K, et al. Among authors: sgarioto n. Mol Brain. 2017 Apr 13;10(1):13. doi: 10.1186/s13041-017-0294-y. Mol Brain. 2017. PMID: 28407788 Free PMC article.
Sacs R272C missense homozygous mice develop an ataxia phenotype.
Larivière R, Sgarioto N, Márquez BT, Gaudet R, Choquet K, McKinney RA, Watt AJ, Brais B. Larivière R, et al. Among authors: sgarioto n. Mol Brain. 2019 Mar 12;12(1):19. doi: 10.1186/s13041-019-0438-3. Mol Brain. 2019. PMID: 30866998 Free PMC article.
Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin.
Duncan EJ, Larivière R, Bradshaw TY, Longo F, Sgarioto N, Hayes MJ, Romano LEL, Nethisinghe S, Giunti P, Bruntraeger MB, Durham HD, Brais B, Maltecca F, Gentil BJ, Chapple JP. Duncan EJ, et al. Among authors: sgarioto n. Hum Mol Genet. 2017 Aug 15;26(16):3130-3143. doi: 10.1093/hmg/ddx197. Hum Mol Genet. 2017. PMID: 28535259 Free PMC article.
NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.
Coutelier M, Jacoupy M, Janer A, Renaud F, Auger N, Saripella GV, Ancien F, Pucci F, Rooman M, Gilis D, Larivière R, Sgarioto N, Valter R, Guillot-Noel L, Le Ber I, Sayah S, Charles P, Nümann A, Pauly MG, Helmchen C, Deininger N, Haack TB, Brais B, Brice A, Trégouët DA, El Hachimi KH, Shoubridge EA, Durr A, Stevanin G. Coutelier M, et al. Among authors: sgarioto n. Brain. 2022 May 24;145(4):1519-1534. doi: 10.1093/brain/awab407. Brain. 2022. PMID: 34788392
Mitochondrial morphology is altered in atrophied skeletal muscle of aged mice.
Leduc-Gaudet JP, Picard M, St-Jean Pelletier F, Sgarioto N, Auger MJ, Vallée J, Robitaille R, St-Pierre DH, Gouspillou G. Leduc-Gaudet JP, et al. Among authors: sgarioto n. Oncotarget. 2015 Jul 20;6(20):17923-37. doi: 10.18632/oncotarget.4235. Oncotarget. 2015. PMID: 26053100 Free PMC article.
Protective role of Parkin in skeletal muscle contractile and mitochondrial function.
Gouspillou G, Godin R, Piquereau J, Picard M, Mofarrahi M, Mathew J, Purves-Smith FM, Sgarioto N, Hepple RT, Burelle Y, Hussain SNA. Gouspillou G, et al. Among authors: sgarioto n. J Physiol. 2018 Jul;596(13):2565-2579. doi: 10.1113/JP275604. Epub 2018 May 30. J Physiol. 2018. PMID: 29682760 Free PMC article.
Anthracycline-containing chemotherapy causes long-term impairment of mitochondrial respiration and increased reactive oxygen species release in skeletal muscle.
Gouspillou G, Scheede-Bergdahl C, Spendiff S, Vuda M, Meehan B, Mlynarski H, Archer-Lahlou E, Sgarioto N, Purves-Smith FM, Konokhova Y, Rak J, Chevalier S, Taivassalo T, Hepple RT, Jagoe RT. Gouspillou G, et al. Among authors: sgarioto n. Sci Rep. 2015 Mar 3;5:8717. doi: 10.1038/srep08717. Sci Rep. 2015. PMID: 25732599 Free PMC article.
19 results