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Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey.
El-Hassar L, Amara A, Sanson B, Lacatus O, Amir Belhouchet A, Kroneman M, Claeys K, Plançon JP, Rodolico C, Primiano G, Trojsi F, Filosto M, Mongini TE, Bortolani S, Monforte M, Carraro E, Maggi L, Ricci F, Silani V, Orsucci D, Créange A, Péréon Y, Stojkovic T, van der Beek NAME, Toscano A, Pareyson D, Attarian S, Van den Bergh PYK, Remiche G, Hoeijmakers JGJ, Badrising U, Voermans NC, Kaindl AM, Schara-Schmidt U, Schoser B, Gazzerro E, Haberlová J, Voháňka S, Pál E, Molnar MJ, Leonardis L, Tournev IL, Osorio AN, Olivé M, Muelas N, Alonso-Perez J, Plá F, de Visser M, Siciliano G, Sacconi S. El-Hassar L, et al. Among authors: mongini te. J Neuromuscul Dis. 2023;10(2):173-184. doi: 10.3233/JND-221525. J Neuromuscul Dis. 2023. PMID: 36373291 Free article.
Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium.
Ditters IAM, Huidekoper HH, Kruijshaar ME, Rizopoulos D, Hahn A, Mongini TE, Labarthe F, Tardieu M, Chabrol B, Brassier A, Parini R, Parenti G, van der Beek NAME, van der Ploeg AT, van den Hout JMP; European Pompe Consortium project group on classic infantile Pompe disease. Ditters IAM, et al. Among authors: mongini te. Lancet Child Adolesc Health. 2022 Jan;6(1):28-37. doi: 10.1016/S2352-4642(21)00308-4. Epub 2021 Nov 22. Lancet Child Adolesc Health. 2022. PMID: 34822769
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.
Bauché S, O'Regan S, Azuma Y, Laffargue F, McMacken G, Sternberg D, Brochier G, Buon C, Bouzidi N, Topf A, Lacène E, Remerand G, Beaufrere AM, Pebrel-Richard C, Thevenon J, El Chehadeh-Djebbar S, Faivre L, Duffourd Y, Ricci F, Mongini T, Fiorillo C, Astrea G, Burloiu CM, Butoianu N, Sandu C, Servais L, Bonne G, Nelson I, Desguerre I, Nougues MC, Bœuf B, Romero N, Laporte J, Boland A, Lechner D, Deleuze JF, Fontaine B, Strochlic L, Lochmuller H, Eymard B, Mayer M, Nicole S. Bauché S, et al. Am J Hum Genet. 2016 Sep 1;99(3):753-761. doi: 10.1016/j.ajhg.2016.06.033. Epub 2016 Aug 25. Am J Hum Genet. 2016. PMID: 27569547 Free PMC article.
Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial.
Diaz-Manera J, Kishnani PS, Kushlaf H, Ladha S, Mozaffar T, Straub V, Toscano A, van der Ploeg AT, Berger KI, Clemens PR, Chien YH, Day JW, Illarioshkin S, Roberts M, Attarian S, Borges JL, Bouhour F, Choi YC, Erdem-Ozdamar S, Goker-Alpan O, Kostera-Pruszczyk A, Haack KA, Hug C, Huynh-Ba O, Johnson J, Thibault N, Zhou T, Dimachkie MM, Schoser B; COMET Investigator Group. Diaz-Manera J, et al. Lancet Neurol. 2021 Dec;20(12):1012-1026. doi: 10.1016/S1474-4422(21)00241-6. Lancet Neurol. 2021. PMID: 34800399 Clinical Trial.
33 results