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Page 1
Report of a novel ATP7A mutation causing distal motor neuropathy.
Gualandi F, Sette E, Fortunato F, Bigoni S, De Grandis D, Scotton C, Selvatici R, Neri M, Incensi A, Liguori R, Storbeck M, Karakaya M, Simioni V, Squarzoni S, Timmerman V, Wirth B, Donadio V, Tugnoli V, Ferlini A. Gualandi F, et al. Among authors: fortunato f. Neuromuscul Disord. 2019 Oct;29(10):776-785. doi: 10.1016/j.nmd.2019.08.008. Epub 2019 Aug 23. Neuromuscul Disord. 2019. PMID: 31558336
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study.
Neri M, Rossi R, Trabanelli C, Mauro A, Selvatici R, Falzarano MS, Spedicato N, Margutti A, Rimessi P, Fortunato F, Fabris M, Gualandi F, Comi G, Tedeschi S, Seia M, Fiorillo C, Traverso M, Bruno C, Giardina E, Piemontese MR, Merla G, Cau M, Marica M, Scuderi C, Borgione E, Tessa A, Astrea G, Santorelli FM, Merlini L, Mora M, Bernasconi P, Gibertini S, Sansone V, Mongini T, Berardinelli A, Pini A, Liguori R, Filosto M, Messina S, Vita G, Toscano A, Vita G, Pane M, Servidei S, Pegoraro E, Bello L, Travaglini L, Bertini E, D'Amico A, Ergoli M, Politano L, Torella A, Nigro V, Mercuri E, Ferlini A. Neri M, et al. Among authors: fortunato f. Front Genet. 2020 Mar 3;11:131. doi: 10.3389/fgene.2020.00131. eCollection 2020. Front Genet. 2020. PMID: 32194622 Free PMC article.
Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy.
Passarelli C, Selvatici R, Carrieri A, Di Raimo FR, Falzarano MS, Fortunato F, Rossi R, Straub V, Bushby K, Reza M, Zharaieva I, D'Amico A, Bertini E, Merlini L, Sabatelli P, Borgiani P, Novelli G, Messina S, Pane M, Mercuri E, Claustres M, Tuffery-Giraud S, Aartsma-Rus A, Spitali P, T'Hoen PAC, Lochmüller H, Strandberg K, Al-Khalili C, Kotelnikova E, Lebowitz M, Schwartz E, Muntoni F, Scapoli C, Ferlini A. Passarelli C, et al. Among authors: fortunato f. Front Genet. 2020 Jul 3;11:605. doi: 10.3389/fgene.2020.00605. eCollection 2020. Front Genet. 2020. PMID: 32719714 Free PMC article.
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries.
Selvatici R, Rossi R, Fortunato F, Trabanelli C, Sifi Y, Margutti A, Neri M, Gualandi F, Szabò L, Fekete B, Angelova L, Litvinenko I, Ivanov I, Vildan Y, Iuhas OA, Vintan M, Burloiu C, Lacramioara B, Visa G, Epure D, Rusu C, Vasile D, Sandu M, Vlodavets D, Mager M, Kyriakides T, Delin S, Lehman I, Fureš JS, Bojinova V, Militaru M, Guergueltcheva V, Burnyte B, Molnar MJ, Butoianu N, Bensemmane SD, Makri-Mokrane S, Herczegfalvi A, Panzaru M, Emandi AC, Lusakowska A, Potulska-Chromik A, Kostera-Pruszczyk A, Shatillo A, Khelladi DB, Dendane O, Fang M, Lu Z, Ferlini A. Selvatici R, et al. Among authors: fortunato f. Neurol Genet. 2020 Dec 24;7(1):e536. doi: 10.1212/NXG.0000000000000536. eCollection 2021 Feb. Neurol Genet. 2020. PMID: 33376799 Free PMC article.
AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients.
Colucci F, Neri M, Fortunato F, Ferlini A, Carrozzo R, Torraco A, Lamantea E, Legati A, Tecilla G, Pugliatti M, Sensi M. Colucci F, et al. Among authors: fortunato f. Cerebellum. 2023 Dec;22(6):1313-1319. doi: 10.1007/s12311-022-01497-y. Epub 2022 Nov 30. Cerebellum. 2023. PMID: 36447112
263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022.
Sarkozy A, Quinlivan R, Bourke JP, Ferlini A; ENMC 263rd Workshop Study Group. Sarkozy A, et al. Neuromuscul Disord. 2023 Mar;33(3):274-284. doi: 10.1016/j.nmd.2023.01.003. Epub 2023 Jan 12. Neuromuscul Disord. 2023. PMID: 36804616 No abstract available.
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: fortunato f. 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
361 results