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Impact of APOE Genotype on Cognition in Idiopathic and Genetic Forms of Parkinson's Disease.
Koros C, Brockmann K, Simitsi AM, Bougea A, Liu H, Hauser AK, Schulte C, Lerche S, Pachi I, Papagiannakis N, Antonelou R, Zahou A, Wurster I, Efthymiopoulou E, Beratis I, Maniati M, Moraitou M, Michelakakis H, Paraskevas G, Papageorgiou SG, Potagas C, Papadimitriou D, Bozi M, Stamelou M, Gasser T, Stefanis L. Koros C, et al. Among authors: michelakakis h. Mov Disord. 2023 May;38(5):907-909. doi: 10.1002/mds.29399. Epub 2023 May 6. Mov Disord. 2023. PMID: 37148559 No abstract available.
Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1.
Dardis A, Michelakakis H, Rozenfeld P, Fumic K, Wagner J, Pavan E, Fuller M, Revel-Vilk S, Hughes D, Cox T, Aerts J; International Working Group of Gaucher Disease (IWGGD). Dardis A, et al. Among authors: michelakakis h. Orphanet J Rare Dis. 2022 Dec 21;17(1):442. doi: 10.1186/s13023-022-02573-6. Orphanet J Rare Dis. 2022. PMID: 36544230 Free PMC article.
Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.
Abu Bakar N, Ashikov A, Brum JM, Smeets R, Kersten M, Huijben K, Keng WT, Speck-Martins CE, de Carvalho DR, de Rizzo IMPO, de Mello WD, Heiner-Fokkema R, Gorman K, Grunewald S, Michelakakis H, Moraitou M, Martinelli D, van Scherpenzeel M, Janssen M, de Boer L, van den Heuvel LP, Thiel C, Lefeber DJ. Abu Bakar N, et al. Among authors: michelakakis h. J Inherit Metab Dis. 2022 Jul;45(4):769-781. doi: 10.1002/jimd.12496. Epub 2022 Mar 28. J Inherit Metab Dis. 2022. PMID: 35279850 Free PMC article.
Mitochondrial neurogastrointestinal encephalomyopathy: Clinical and biochemical impact of allogeneic stem cell transplantation in a Greek patient with one novel TYMP mutation.
Paisiou A, Rogalidou M, Pons R, Ioannidou E, Dimakou K, Papadopoulou A, Vaz FM, Vessalas G, Goorden SMI, Roelofsen J, Zoetekouw A, Nieman MM, Dimitriou E, Moraitou M, Peristeri I, Michelakakis H, van Kuilenburg ABP. Paisiou A, et al. Among authors: michelakakis h. Mol Genet Metab Rep. 2021 Dec 3;30:100829. doi: 10.1016/j.ymgmr.2021.100829. eCollection 2022 Mar. Mol Genet Metab Rep. 2021. PMID: 34926160 Free PMC article.
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.
Wilson MP, Garanto A, Pinto E Vairo F, Ng BG, Ranatunga WK, Ventouratou M, Baerenfaenger M, Huijben K, Thiel C, Ashikov A, Keldermans L, Souche E, Vuillaumier-Barrot S, Dupré T, Michelakakis H, Fiumara A, Pitt J, White SM, Lim SC, Gallacher L, Peters H, Rymen D, Witters P, Ribes A, Morales-Romero B, Rodríguez-Palmero A, Ballhausen D, de Lonlay P, Barone R, Janssen MCH, Jaeken J, Freeze HH, Matthijs G, Morava E, Lefeber DJ. Wilson MP, et al. Among authors: michelakakis h. Am J Hum Genet. 2021 Nov 4;108(11):2130-2144. doi: 10.1016/j.ajhg.2021.09.012. Epub 2021 Oct 14. Am J Hum Genet. 2021. PMID: 34653363 Free PMC article.
127 results