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Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency.
Nitschke S, Sullivan MA, Mitra S, Marchioni CR, Lee JPY, Smith BH, Ahonen S, Wu J, Chown EE, Wang P, Petković S, Zhao X, DiGiovanni LF, Perri AM, Israelian L, Grossman TR, Kordasiewicz H, Vilaplana F, Iwai K, Nitschke F, Minassian BA. Nitschke S, et al. Among authors: mitra s. Brain. 2022 Jul 29;145(7):2361-2377. doi: 10.1093/brain/awac017. Brain. 2022. PMID: 35084461 Free PMC article.
Lafora disease - from pathogenesis to treatment strategies.
Nitschke F, Ahonen SJ, Nitschke S, Mitra S, Minassian BA. Nitschke F, et al. Among authors: mitra s. Nat Rev Neurol. 2018 Oct;14(10):606-617. doi: 10.1038/s41582-018-0057-0. Nat Rev Neurol. 2018. PMID: 30143794 Free PMC article. Review.
Lafora disease: Current biology and therapeutic approaches.
Mitra S, Gumusgoz E, Minassian BA. Mitra S, et al. Rev Neurol (Paris). 2022 Apr;178(4):315-325. doi: 10.1016/j.neurol.2021.06.006. Epub 2021 Jul 21. Rev Neurol (Paris). 2022. PMID: 34301405 Free PMC article. Review.
LUBAC: a new player in polyglucosan body disease.
Aboujaoude A, Minassian B, Mitra S. Aboujaoude A, et al. Among authors: mitra s. Biochem Soc Trans. 2021 Nov 1;49(5):2443-2454. doi: 10.1042/BST20210838. Biochem Soc Trans. 2021. PMID: 34709403 Free PMC article. Review.
Neonatal somatic oxygenation and perfusion assessment using near-infrared spectroscopy : Part of the series on near-infrared spectroscopy by the European Society of Paediatric Research Special Interest Group "Near-Infrared Spectroscopy".
Kooi EMW, Mintzer JP, Rhee CJ, Ergenekon E, Schwarz CE, Pichler G, de Boode WP; ESPR Special Interest Group “Near-Infrared Spectroscopy (NIRS)”. Kooi EMW, et al. Pediatr Res. 2024 May 10. doi: 10.1038/s41390-024-03226-z. Online ahead of print. Pediatr Res. 2024. PMID: 38730022 Review.
3,953 results