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Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND).
Nanetti L, Kearney M, Boesch S, Stovickova L, Ortigoza-Escobar JD, Macaya A, Gomez-Andres D, Roze E, Molnar MJ, Wolf NI, Darling A, Vasco G, Bertini E, Indelicato E, Neubauer D, Haack TB, Sagi JC, Danti FR, Sival D, Zanni G, Kolk A, Boespflug-Tanguy O, Schols L, van de Warrenburg B, Vidailhet M, Willemsen MA, Buizer AI, Orzes E, Ripp S, Reinhard C, Moroni I, Mariotti C; ERN-RND Working Group for Management of Transition. Nanetti L, et al. Among authors: molnar mj. Neurol Sci. 2024 Mar;45(3):1007-1016. doi: 10.1007/s10072-023-07101-3. Epub 2023 Oct 19. Neurol Sci. 2024. PMID: 37853291
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Case report: The spectrum of SMPD1 pathogenic variants in Hungary.
Molnar MJ, Szlepak T, Csürke I, Loth S, Káposzta R, Erdős M, Dezsőfi A. Molnar MJ, et al. Front Genet. 2023 Jun 6;14:1158108. doi: 10.3389/fgene.2023.1158108. eCollection 2023. Front Genet. 2023. PMID: 37347058 Free PMC article.
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.
Karaa A, Bertini E, Carelli V, Cohen BH, Enns GM, Falk MJ, Goldstein A, Gorman GS, Haas R, Hirano M, Klopstock T, Koenig MK, Kornblum C, Lamperti C, Lehman A, Longo N, Molnar MJ, Parikh S, Phan H, Pitceathly RDS, Saneto R, Scaglia F, Servidei S, Tarnopolsky M, Toscano A, Van Hove JLK, Vissing J, Vockley J, Finman JS, Brown DA, Shiffer JA, Mancuso M; MMPOWER-3 Trial Investigators. Karaa A, et al. Among authors: molnar mj. Neurology. 2023 Jul 18;101(3):e238-e252. doi: 10.1212/WNL.0000000000207402. Epub 2023 Jun 2. Neurology. 2023. PMID: 37268435 Free PMC article. Clinical Trial.
Factors associated with the severity of COVID-19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular COVID-19 Registry.
Pizzamiglio C, Pitceathly RDS, Lunn MP, Brady S, De Marchi F, Galan L, Heckmann JM, Horga A, Molnar MJ, Oliveira ASB, Pinto WBVR, Primiano G, Santos E, Schoser B, Servidei S, Sgobbi Souza PV, Venugopalan V, Hanna MG, Dimachkie MM, Machado PM; Neuromuscular Diseases and COVID-19 Study Group. Pizzamiglio C, et al. Among authors: molnar mj. Eur J Neurol. 2023 Feb;30(2):399-412. doi: 10.1111/ene.15613. Epub 2022 Nov 18. Eur J Neurol. 2023. PMID: 36303290 Free PMC article.
Sex steroid hormones and epilepsy: Effects of hormonal replacement therapy on seizure frequency of postmenopausal women with epilepsy-A systematic review.
Carvalho V, Colonna I, Curia G, Ferretti MT, Arabia G, Molnar MJ, Lebedeva ER, Moro E, de Visser M, Bui E; Gender and Diversity Issues in Neurology Task Force of the European Academy of Neurology. Carvalho V, et al. Among authors: molnar mj. Eur J Neurol. 2023 Sep;30(9):2884-2898. doi: 10.1111/ene.15916. Epub 2023 Jul 4. Eur J Neurol. 2023. PMID: 37326003 Review.
Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2-3 trial.
Köhler W, Engelen M, Eichler F, Lachmann R, Fatemi A, Sampson J, Salsano E, Gamez J, Molnar MJ, Pascual S, Rovira M, Vilà A, Pina G, Martín-Ugarte I, Mantilla A, Pizcueta P, Rodríguez-Pascau L, Traver E, Vilalta A, Pascual M, Martinell M, Meya U, Mochel F; ADVANCE Study Group. Köhler W, et al. Among authors: molnar mj. Lancet Neurol. 2023 Feb;22(2):127-136. doi: 10.1016/S1474-4422(22)00495-1. Lancet Neurol. 2023. PMID: 36681445 Clinical Trial.
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study.
Wallace EL, Goker-Alpan O, Wilcox WR, Holida M, Bernat J, Longo N, Linhart A, Hughes DA, Hopkin RJ, Tøndel C, Langeveld M, Giraldo P, Pisani A, Germain DP, Mehta A, Deegan PB, Molnar MJ, Ortiz D, Jovanovic A, Muriello M, Barshop BA, Kimonis V, Vujkovac B, Nowak A, Geberhiwot T, Kantola I, Knoll J, Waldek S, Nedd K, Karaa A, Brill-Almon E, Alon S, Chertkoff R, Rocco R, Sakov A, Warnock DG. Wallace EL, et al. Among authors: molnar mj. J Med Genet. 2024 May 21;61(6):520-530. doi: 10.1136/jmg-2023-109445. J Med Genet. 2024. PMID: 37940383 Free PMC article. Clinical Trial.
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: molnar mj. J Neuromuscul Dis. 2023;10(2):173-184. doi: 10.3233/JND-221525. J Neuromuscul Dis. 2023. PMID: 36373291 Free article.
146 results