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Page 1
Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey.
Mancuso M, Lopriore P, Lamperti C, Klopstock T, Rahman S, Licchetta L, Kornblum C, Wortmann SB, Dollfus H, Papadopoulou MT, Arzimanoglou A, Scarpa M, Graessner H, Evangelista T. Mancuso M, et al. Among authors: papadopoulou mt. J Neurol. 2024 Feb;271(2):835-840. doi: 10.1007/s00415-023-12017-1. Epub 2023 Oct 13. J Neurol. 2024. PMID: 37831128 Free PMC article.
Development and testing of methods to record and follow up spells in patients with alternating hemiplegia of childhood.
Sentmanat MK, Papadopoulou MT, Prange L, Fons C, De Grandis E, Vezyroglou A, Boggs A, Su S, Comajuan M, Wuchich J, Jóhannesson S, Huaynate JA, Stagnaro M, Megvinov A, Patel S; IAHCRC OBSERV-AHC Study Group; Arzimanoglou A, Vavassori R, Panagiotakaki E, Mikati MA. Sentmanat MK, et al. Among authors: papadopoulou mt. Eur J Paediatr Neurol. 2023 Sep;46:98-107. doi: 10.1016/j.ejpn.2023.07.005. Epub 2023 Aug 4. Eur J Paediatr Neurol. 2023. PMID: 37562161
Methodology of a Natural History Study of a Rare Neurodevelopmental Disorder: Alternating Hemiplegia of Childhood as a Prototype Disease.
Patel SH, Panagiotakaki E, Papadopoulou MT, Fons C, De Grandis E, Vezyroglou A, Balestrini S, Hong H, Liu B, Prange L, Arzimanoglou A, Vavassori R, Mikati MA. Patel SH, et al. Among authors: papadopoulou mt. J Child Neurol. 2023 Oct;38(10-12):597-610. doi: 10.1177/08830738231197861. Epub 2023 Sep 20. J Child Neurol. 2023. PMID: 37728088
Unraveling unmet needs in ketogenic dietary services: An ERN EpiCARE survey.
De Giorgis V, Pasca L, Aznar-Lain G, Bibic I, Bibic V, Darra F, Dianin A, Dressler A, Jonsson H, Komulainen-Ebrahim J, Kverneland M, Molteberg E, Ragona F, de Saint-Martin A, Varesio C, Cross JH; ERN EpiCARE Ketogenic Dietary Therapy Special Interest Group (KDT SIG). De Giorgis V, et al. Epilepsia Open. 2024 Aug;9(4):1582-1588. doi: 10.1002/epi4.12968. Epub 2024 Jul 1. Epilepsia Open. 2024. PMID: 38952082 Free PMC article.
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.
Mancuso M, Papadopoulou MT, Ng YS, Ardissone A, Bellusci M, Bertini E, Di Vito L, Evangelista T, Fons C, Hikmat O, Horvath R, Klopstock T, Kornblum C, Lamperti C, Licchetta L, Molnar MJ, Varhaug KN, O'Callaghan M, Pressler RM, Schiff M, Servidei S, Szabo N, Gorman GS, Cross JH, Rahman S. Mancuso M, et al. Among authors: papadopoulou mt. Eur J Neurol. 2024 Jul;31(7):e16275. doi: 10.1111/ene.16275. Epub 2024 Apr 4. Eur J Neurol. 2024. PMID: 38576261 Free PMC article.
Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).
Ghasemi MR, Fateh ST, Ben-Mahmoud A, Gupta V, Stühn LG, Lesca G, Chatron N, Platzer K, Edery P, Sadeghi H, Isidor B, Cogné B, Schulz HL, Krauspe-Stübecke I, Periyasamy R, Nampoothiri S, Mirfakhraie R, Alijanpour S, Syrbe S, Pfeifer U, Spranger S, Grundmann-Hauser K, Haack TB, Papadopoulou MT, da Silva Gonçalves T, Panagiotakaki E, Arzimanoglou A, Tonekaboni SH, Rossi M, Korenke GC, Lacassie Y, Jang MH, Layman LC, Miryounesi M, Kim HG. Ghasemi MR, et al. Among authors: papadopoulou mt. Am J Med Genet A. 2024 Dec 20:e63963. doi: 10.1002/ajmg.a.63963. Online ahead of print. Am J Med Genet A. 2024. PMID: 39707601
20 results