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The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot-Marie-Tooth disease.
Cinarli Yuksel F, Nicolaou P, Spontarelli K, Dohrn MF, Rebelo AP, Koutsou P, Georghiou A, Artigas P, Züchner SL, Kleopa KA, Christodoulou K. Cinarli Yuksel F, et al. Among authors: nicolaou p. J Neurol. 2023 May;270(5):2576-2590. doi: 10.1007/s00415-023-11581-w. Epub 2023 Feb 4. J Neurol. 2023. PMID: 36738336 Free PMC article.
Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia.
Kakouri AC, Votsi C, Oulas A, Nicolaou P, Aureli M, Lunghi G, Samarani M, Compagnoni GM, Salani S, Di Fonzo A, Christophides T, Tanteles GA, Zamba-Papanicolaou E, Pantzaris M, Spyrou GM, Christodoulou K. Kakouri AC, et al. Among authors: nicolaou p. Cell Biosci. 2022 Mar 11;12(1):29. doi: 10.1186/s13578-022-00754-1. Cell Biosci. 2022. PMID: 35277195 Free PMC article.
61 results