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Page 1
GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing.
Malekkou A, Theodosiou A, Alexandrou A, Papaevripidou I, Sismani C, Jacobs EH, Ruijter GJG, Anastasiadou V, Ourani S, Athanasiou E, Drousiotou A, Grafakou O, Petrou PP. Malekkou A, et al. Among authors: drousiotou a. Mol Genet Metab Rep. 2023 Aug 7;36:100997. doi: 10.1016/j.ymgmr.2023.100997. eCollection 2023 Sep. Mol Genet Metab Rep. 2023. PMID: 37600231 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: drousiotou 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.
A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease.
Malekkou A, Sevastou I, Mavrikiou G, Georgiou T, Vilageliu L, Moraitou M, Michelakakis H, Prokopiou C, Drousiotou A. Malekkou A, et al. Among authors: drousiotou a. Mol Genet Genomic Med. 2020 Mar;8(3):e1090. doi: 10.1002/mgg3.1090. Epub 2020 Jan 14. Mol Genet Genomic Med. 2020. PMID: 31943857 Free PMC article.
29 results