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PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
Chelban V, Wilson MP, Warman Chardon J, Vandrovcova J, Zanetti MN, Zamba-Papanicolaou E, Efthymiou S, Pope S, Conte MR, Abis G, Liu YT, Tribollet E, Haridy NA, Botía JA, Ryten M, Nicolaou P, Minaidou A, Christodoulou K, Kernohan KD, Eaton A, Osmond M, Ito Y, Bourque P, Jepson JEC, Bello O, Bremner F, Cordivari C, Reilly MM, Foiani M, Heslegrave A, Zetterberg H, Heales SJR, Wood NW, Rothman JE, Boycott KM, Mills PB, Clayton PT, Houlden H; Care4Rare Canada Consortium and the SYNaPS Study Group. Chelban V, et al. Among authors: minaidou a. Ann Neurol. 2019 Aug;86(2):225-240. doi: 10.1002/ana.25524. Epub 2019 Jul 1. Ann Neurol. 2019. PMID: 31187503 Free PMC article.
A novel SLC30A10 missense variant associated with parkinsonism and dystonia without hypermanganesemia.
Lambrianides S, Nicolaou P, Michaelidou M, Kakouris P, Votsi C, Petrou PP, Drousiotou A, Minaidou A, Demetriou P, Voulgaris C, Christodoulou K, Tanteles GA, Pantzaris M. Lambrianides S, et al. Among authors: minaidou a. J Neurol Sci. 2020 Nov 15;418:117101. doi: 10.1016/j.jns.2020.117101. Epub 2020 Aug 18. J Neurol Sci. 2020. PMID: 32866815 No abstract available.
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S, Xenophontos M, Minaidou A, Stephanou C, Harteveld CL, Bento C, Traeger-Synodinos J, Fylaktou I, Yasin NM, Abdul Hamid FS, Esa E, Halim-Fikri H, Zilfalil BA, Kakouri AC; ClinGen Hemoglobinopathy Variant Curation Expert Panel; Kleanthous M, Kountouris P. Tamana S, et al. Among authors: minaidou a. Elife. 2022 Dec 1;11:e79713. doi: 10.7554/eLife.79713. Elife. 2022. PMID: 36453528 Free PMC article.