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Journal of Cell Science|September 22, 2020
Stbd1 promotes glycogen clustering during endoplasmic reticulum stress and supports survival of mouse myoblastsAndria A Lytridou, Anthi Demetriadou, Melina Christou, et al.JAMA Neurology|November 24, 2015
Identifying Non-Duchenne Muscular Dystrophy-Positive and False Negative Results in Prior Duchenne Muscular Dystrophy Newborn Screening Programs: A ReviewMichele A Gatheridge, Jennifer M Kwon, Jerry M Mendell, et al.International Journal of Molecular Sciences|October 13, 2018
Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic AtaxiaAnna Malekkou, Maura Samarani, Anthi Drousiotou, et al.Molecular Genetics and Metabolism Reports|November 25, 2024
A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristicsTheodoros Georgiou, Olga Grafakou, Anna Malekkou, et al.American Journal of Human Genetics|October 16, 2002
Evidence for balancing selection from nucleotide sequence analyses of human G6PDBrian C Verrelli, John H McDonald, George Argyropoulos, et al.Case Reports in Genetics|April 29, 2016
Novel GLA Deletion in a Cypriot Female Presenting with Cornea VerticillataTheodoros Georgiou, Gavriella Mavrikiou, Angelos Alexandrou, et al.Molecular Genetics and Metabolism Reports|August 21, 2023
GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencingAnna Malekkou, Athina Theodosiou, Angelos Alexandrou, et al.Human Mutation|May 18, 2006
The cypriot and Iranian National Mutation Frequency DatabasesMarina Kleanthous, Philippos C Patsalis, Anthi Drousiotou, et al.Journal of Inherited Metabolic Disease|April 21, 2025
YME1L1 Dysfunction Associated With 3-Methylglutaconic AciduriaAnthi Demetriadou, Olga Grafakou, Theodoros Georgiou, et al.Human Molecular Genetics|August 1, 2022
Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporterSpyros Batzios, Galit Tal, Andrew T DiStasio, et al.Pageof 4