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Page 1
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.
Individual perception of environmental factors that influence lower limbs spasticity in inherited spastic paraparesis.
Lallemant-Dudek P MD, Parodi L PhD, Coarelli G MD, Heinzmann A MD, Charles P MD PhD, Ewenczyk C MD, PhD, Fenu S MD, Monin ML MD, Corcia P MD PhD, Depienne C PhD, Mochel F MD, PhD, Benard J PhD, Tezenas du Montcel S MD, Durr A MD, PhD. Lallemant-Dudek P MD, et al. Among authors: fenu s md. Ann Phys Rehabil Med. 2023 Sep;66(6):101732. doi: 10.1016/j.rehab.2023.101732. Epub 2023 Apr 5. Ann Phys Rehabil Med. 2023. PMID: 37028193
Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy.
Gentile L, Mazzeo A, Briani C, Casagrande S, De Luca M, Fabrizi GM, Gagliardi C, Gemelli C, Forcina F, Grandis M, Guglielmino V, Iabichella G, Leonardi L, Lozza A, Manganelli F, Mussinelli R, My F, Occhipinti G, Fenu S, Russo M, Romano A, Salvalaggio A, Tagliapietra M, Tozza S, Palladini G, Obici L, Luigetti M. Gentile L, et al. Among authors: fenu s. Neurol Sci. 2024 Apr 16. doi: 10.1007/s10072-024-07494-9. Online ahead of print. Neurol Sci. 2024. PMID: 38622453
Reliability of flow-cytometry in diagnosis and prognostic stratification of myelodysplastic syndromes: correlations with morphology and mutational profile.
Guarnera L, Fabiani E, Attrotto C, Hajrullaj H, Cristiano A, Latagliata R, Fenu S, Buccisano F, Irno-Consalvo M, Conti C, Voso MT, Maurillo L. Guarnera L, et al. Among authors: fenu s. Ann Hematol. 2023 Nov;102(11):3015-3023. doi: 10.1007/s00277-023-05384-2. Epub 2023 Aug 3. Ann Hematol. 2023. PMID: 37535147 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.
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.
160 results