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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: artigas 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.
ATP1A1-linked diseases require a malfunctioning protein product from one allele.
Spontarelli K, Young VC, Sweazey R, Padro A, Lee J, Bueso T, Hernandez RM, Kim J, Katz A, Rossignol F, Turner C, Wilczewski CM, Maxwell GL, Holmgren M, Bailoo JD, Yano ST, Artigas P. Spontarelli K, et al. Among authors: artigas p. Biochim Biophys Acta Mol Cell Res. 2024 Jan;1871(1):119572. doi: 10.1016/j.bbamcr.2023.119572. Epub 2023 Sep 1. Biochim Biophys Acta Mol Cell Res. 2024. PMID: 37659504
[No title available]
[No authors listed] [No authors listed] PMID: 36784736
[No title available]
[No authors listed] [No authors listed] PMID: 36784732
Wide variation of heterozygotic genotypes of recent fasciolid hybrids from livestock in Bangladesh assessed by rDNA internal transcribed spacer region sequencing and cloning.
Ahasan SA, De Elías-Escribano A, Artigas P, Alam MZ, Mondal MMH, Blair D, Chowdhury EH, Bargues MD, Mas-Coma S. Ahasan SA, et al. Among authors: artigas p. One Health. 2023 Aug 9;17:100614. doi: 10.1016/j.onehlt.2023.100614. eCollection 2023 Dec. One Health. 2023. PMID: 37649708 Free PMC article.
92 results