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Page 1
Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity.
Kekou K, Svingou M, Vogiatzakis N, Nitsa E, Veltra D, Marinakis NM, Tilemis FN, Tzetis M, Mitrakos A, Tsaroucha C, Selenti N, Papadimas GK, Papadopoulos C, Traeger-Synodinos J, Lochmuller H, Sofocleous C. Kekou K, et al. Among authors: papadimas gk. Expert Rev Mol Diagn. 2023 Jul-Dec;23(11):999-1010. doi: 10.1080/14737159.2023.2264181. Epub 2023 Oct 24. Expert Rev Mol Diagn. 2023. PMID: 37754746
Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease.
Kishnani PS, Byrne BJ, Claeys KG, Díaz-Manera J, Dimachkie MM, Kushlaf H, Mozaffar T, Roberts M, Schoser B, Hummel N, Kopiec A, Holdbrook F, Shohet S, Toscano A; PROPEL Study Group. Kishnani PS, et al. J Patient Rep Outcomes. 2024 Nov 13;8(1):132. doi: 10.1186/s41687-024-00805-w. J Patient Rep Outcomes. 2024. PMID: 39535661 Free PMC article. Clinical Trial.
104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07).
Schoser B, Kishnani PS, Bratkovic D, Byrne BJ, Claeys KG, Díaz-Manera J, Laforêt P, Roberts M, Toscano A, van der Ploeg AT, Castelli J, Goldman M, Holdbrook F, Sitaraman Das S, Wasfi Y, Mozaffar T; ATB200-07 Study Group. Schoser B, et al. J Neurol. 2024 May;271(5):2810-2823. doi: 10.1007/s00415-024-12236-0. Epub 2024 Feb 28. J Neurol. 2024. PMID: 38418563 Free PMC article. Clinical Trial.
A Greek National Cross-Sectional Study on Myotonic Dystrophies.
Papadimas GK, Papadopoulos C, Kekou K, Kartanou C, Kladi A, Nitsa E, Sofocleous C, Tsanou E, Sarmas I, Kaninia S, Chroni E, Tsivgoulis G, Kimiskidis V, Arnaoutoglou M, Stefanis L, Panas M, Koutsis G, Karadima G, Traeger-Synodinos J. Papadimas GK, et al. Int J Mol Sci. 2022 Dec 7;23(24):15507. doi: 10.3390/ijms232415507. Int J Mol Sci. 2022. PMID: 36555146 Free PMC article.
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
Schiava M, Ikenaga C, Villar-Quiles RN, Caballero-Ávila M, Topf A, Nishino I, Kimonis V, Udd B, Schoser B, Zanoteli E, Souza PVS, Tasca G, Lloyd T, Lopez-de Munain A, Paradas C, Pegoraro E, Nadaj-Pakleza A, De Bleecker J, Badrising U, Alonso-Jiménez A, Kostera-Pruszczyk A, Miralles F, Shin JH, Bevilacqua JA, Olivé M, Vorgerd M, Kley R, Brady S, Williams T, Domínguez-González C, Papadimas GK, Warman-Chardon J, Claeys KG, de Visser M, Muelas N, LaForet P, Malfatti E, Alfano LN, Nair SS, Manousakis G, Kushlaf HA, Harms MB, Nance C, Ramos-Fransi A, Rodolico C, Hewamadduma C, Cetin H, García-García J, Pál E, Farrugia ME, Lamont PJ, Quinn C, Nedkova-Hristova V, Peric S, Luo S, Oldfors A, Taylor K, Ralston S, Stojkovic T, Weihl C, Diaz-Manera J; VCP International Study Group; VCP International Study Group. Schiava M, et al. Among authors: papadimas gk. J Neurol Neurosurg Psychiatry. 2022 Jul 27:jnnp-2022-328921. doi: 10.1136/jnnp-2022-328921. Online ahead of print. J Neurol Neurosurg Psychiatry. 2022. PMID: 35896379 Free PMC article.
Serum miRNAs as biomarkers for the rare types of muscular dystrophy.
Koutsoulidou A, Koutalianos D, Georgiou K, Kakouri AC, Oulas A, Tomazou M, Kyriakides TC, Roos A, Papadimas GK, Papadopoulos C, Kararizou E, Spyrou GM, Zamba Papanicolaou E, Lochmüller H, Phylactou LA. Koutsoulidou A, et al. Among authors: papadimas gk. Neuromuscul Disord. 2022 Apr;32(4):332-346. doi: 10.1016/j.nmd.2022.03.003. Epub 2022 Mar 11. Neuromuscul Disord. 2022. PMID: 35393236 Free article.
66 results