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Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience.
Fortunato F, Bianchi F, Ricci G, Torri F, Gualandi F, Neri M, Farnè M, Giannini F, Malandrini A, Volpi N, Lopergolo D, Silani V, Ticozzi N, Verde F, Pareyson D, Fenu S, Bonanno S, Nigro V, Peduto C, D'Ambrosio P, Zeuli R, Zanobio M, Picillo E, Servidei S, Primiano G, Sancricca C, Sciacco M, Brusa R, Filosto M, Cotti Piccinelli S, Pegoraro E, Mongini T, Solero L, Gadaleta G, Brusa C, Minetti C, Bruno C, Panicucci C, Sansone VA, Lunetta C, Zanolini A, Toscano A, Pugliese A, Nicocia G, Bertini E, Catteruccia M, Diodato D, Atalaia A, Evangelista T, Siciliano G, Ferlini A. Fortunato F, et al. Among authors: evangelista t. Orphanet J Rare Dis. 2023 Jul 21;18(1):196. doi: 10.1186/s13023-023-02776-5. Orphanet J Rare Dis. 2023. PMID: 37480080 Free PMC article.
TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases.
Farnè M, Fortunato F, Neri M, Farnè M, Balla C, Albamonte E, Barp A, Armaroli A, Perugini E, Carinci V, Facchini M, Chiarini L, Sansone VA, Straudi S, Tugnoli V, Sette E, Sensi M, Bertini M, Evangelista T, Ferlini A, Gualandi F. Farnè M, et al. Among authors: evangelista t. Eur J Med Genet. 2023 Jun;66(6):104749. doi: 10.1016/j.ejmg.2023.104749. Epub 2023 Mar 21. Eur J Med Genet. 2023. PMID: 36948289
Phenotype variability and natural history of X-linked myopathy with excessive autophagy.
Fernández-Eulate G, Alfieri G, Spinazzi M, Ackermann-Bonan I, Duval F, Solé G, Caillon F, Mercier S, Pereon Y, Magot A, Pegat A, Salort-Campana E, Chabrol B, Gorokhova S, Krahn M, Biancalana V, Evangelista T, Behin A, Metay C, Stojkovic T. Fernández-Eulate G, et al. Among authors: evangelista t. J Neurol. 2024 Mar 22. doi: 10.1007/s00415-024-12298-0. Online ahead of print. J Neurol. 2024. PMID: 38517523
E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 3rd eNMD Congress: Pisa, Italy, 29-30 October 2021.
Schirinzi E, Bochicchio MA, Lochmüller H, Vissing J, Jordie-Diaz-Manerae, Evangelista T, Plançon JP, Fanucci L, Marini M, Tonacci A, Mancuso M, Segovia-Kueny S, Toscano A, Angelini C, Schoser B, Sacconi S, Siciliano G; e-NMD group. Schirinzi E, et al. Among authors: evangelista t. J Neuromuscul Dis. 2024 May 8. doi: 10.3233/JND-230091. Online ahead of print. J Neuromuscul Dis. 2024. PMID: 38728200
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: evangelista t. Eur J Neurol. 2024 Apr 4:e16275. doi: 10.1111/ene.16275. Online ahead of print. Eur J Neurol. 2024. PMID: 38576261
Identification of an N-terminal tag (580N) that improves the biosynthesis of fluorescent proteins in Francisella tularensis and other Gram-negative bacteria.
Haggerty K, Cantlay S, Young E, Cashbaugh MK, Delatore Iii EF, Schreiber R, Hess H, Komlosi DR, Butler S, Bolon D, Evangelista T, Hager T, Kelly C, Phillips K, Voellinger J, Shanks RMQ, Horzempa J. Haggerty K, et al. Among authors: evangelista t. Mol Cell Probes. 2024 Apr;74:101956. doi: 10.1016/j.mcp.2024.101956. Epub 2024 Mar 19. Mol Cell Probes. 2024. PMID: 38492609 Free PMC article.
EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders.
Atalaia A, Wandrei D, Lalout N, Thompson R, Tassoni A, 't Hoen PAC, Athanasiou D, Baker SA, Sakellariou P, Paliouras G, D'Angelo C, Horvath R, Mancuso M, van der Beek N, Kornblum C, Kirschner J, Pareyson D, Bassez G, Blacas L, Jacoupy M, Eng C, Lamy F, Plançon JP, Haberlova J, Brusse E, Hoeijmakers JGJ, de Visser M, Claeys KG, Paradas C, Toscano A, Silani V, Gyenge M, Reviers E, Hamroun D, Vroom E, Wilkinson MD, Lochmuller H, Evangelista T. Atalaia A, et al. Among authors: evangelista t. Orphanet J Rare Dis. 2024 Feb 14;19(1):66. doi: 10.1186/s13023-024-03059-3. Orphanet J Rare Dis. 2024. PMID: 38355534 Free PMC article. Review.
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: evangelista t. 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.
159 results