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2018 1
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2020 5
2021 8
2022 5
2023 8
2024 2

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Page 1
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Dominik N, Magri S, Currò R, Abati E, Facchini S, Corbetta M, Macpherson H, Di Bella D, Sarto E, Stevanovski I, Chintalaphani SR, Akcimen F, Manini A, Vegezzi E, Quartesan I, Montgomery KA, Pirota V, Crespan E, Perini C, Grupelli GP, Tomaselli PJ, Marques W; Genomics England Research Consortium; Shaw J, Polke J, Salsano E, Fenu S, Pareyson D, Pisciotta C, Tofaris GK, Nemeth AH, Ealing J, Radunovic A, Kearney S, Kumar KR, Vucic S, Kennerson M, Reilly MM, Houlden H, Deveson I, Tucci A, Taroni F, Cortese A. Dominik N, et al. Among authors: fenu s. Brain. 2023 Dec 1;146(12):5060-5069. doi: 10.1093/brain/awad240. Brain. 2023. PMID: 37450567 Free PMC article.
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
Méreaux JL, Davoine CS, Pellerin D, Coarelli G, Coutelier M, Ewenczyk C, Monin ML, Anheim M, Le Ber I, Thobois S, Gobert F, Guillot-Noël L, Forlani S, Jornea L, Heinzmann A, Sangare A, Gaymard B, Guyant-Maréchal L, Charles P, Marelli C, Honnorat J, Degos B, Tison F, Sangla S, Simonetta-Moreau M, Salachas F, Tchikviladzé M, Castelnovo G, Mochel F, Klebe S, Castrioto A, Fenu S, Méneret A, Bourdain F, Wandzel M, Roth V, Bonnet C, Riant F, Stevanin G, Noël S, Fauret-Amsellem AL, Bahlo M, Lockhart PJ, Brais B, Renaud M, Brice A, Durr A. Méreaux JL, et al. Among authors: fenu s. EBioMedicine. 2024 Jan;99:104931. doi: 10.1016/j.ebiom.2023.104931. Epub 2023 Dec 27. EBioMedicine. 2024. PMID: 38150853 Free PMC article.
Asymptomatic adrenoleukodystrophy in elderly males.
Benzoni C, Fenu S, Pensato V, Mauro E, Gellera C, Pareyson D, Salsano E. Benzoni C, et al. Among authors: fenu s. J Neurol. 2020 Jun;267(6):1849-1851. doi: 10.1007/s00415-020-09834-z. Epub 2020 Apr 20. J Neurol. 2020. PMID: 32307584 No abstract available.
Progressive brachial plexus enlargement in hereditary transthyretin amyloidosis.
Salvalaggio A, Coraci D, Obici L, Cacciavillani M, Luigetti M, Mazzeo A, Pastorelli F, Grandis M, Cavallaro T, Bisogni G, Lozza A, Gemelli C, Gentile L, Russo M, Ermani M, Fabrizi GM, Plasmati R, De Napoli F, Campagnolo M, Castellani F, Salvi F, Fenu S, Devigili G, Pareyson D, Gasparotti R, Rapezzi C, Martinoli C, Padua L, Briani C. Salvalaggio A, et al. Among authors: fenu s. J Neurol. 2022 Apr;269(4):1905-1912. doi: 10.1007/s00415-021-10754-9. Epub 2021 Aug 19. J Neurol. 2022. PMID: 34410494 Free PMC article.
Magnetic resonance neurography and diffusion tensor imaging of the sciatic nerve in hereditary transthyretin amyloidosis polyneuropathy.
Gasparotti R, Salvalaggio A, Corbo D, Agazzi G, Cacciavillani M, Lozza A, Fenu S, De Vigili G, Tagliapietra M, Fabrizi GM, Pareyson D, Obici L, Briani C. Gasparotti R, et al. Among authors: fenu s. J Neurol. 2023 Oct;270(10):4827-4840. doi: 10.1007/s00415-023-11813-z. Epub 2023 Jun 17. J Neurol. 2023. PMID: 37329346 Free PMC article.
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: fenu s. 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.
25 results