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Page 1
Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation.
Di Fonzo A, Ronchi D, Gallia F, Cribiù FM, Trezzi I, Vetro A, Della Mina E, Limongelli I, Bellazzi R, Ricca I, Micieli G, Fassone E, Rizzuti M, Bordoni A, Fortunato F, Salani S, Mora G, Corti S, Ceroni M, Bosari S, Zuffardi O, Bresolin N, Nobile-Orazio E, Comi GP. Di Fonzo A, et al. Among authors: ricca i. Neurology. 2014 Jun 3;82(22):1990-8. doi: 10.1212/WNL.0000000000000476. Epub 2014 May 7. Neurology. 2014. PMID: 24808015
Decreasing ganglioside synthesis delays motor and cognitive symptom onset in Spg11 knockout mice.
Fortier M, Cauhapé M, Buono S, Becker J, Menuet A, Branchu J, Ricca I, Mero S, Dorgham K, El Hachimi KH, Dobrenis K, Colsch B, Samaroo D, Devaux M, Durr A, Stevanin G, Santorelli FM, Colombo S, Cowling B, Darios F. Fortier M, et al. Among authors: ricca i. Neurobiol Dis. 2024 Sep;199:106564. doi: 10.1016/j.nbd.2024.106564. Epub 2024 Jun 12. Neurobiol Dis. 2024. PMID: 38876323 Free article.
MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study.
Scaravilli A, Negroni D, Senatore C, Ugga L, Cosottini M, Ricca I, Bender B, Traschütz A, Başak AN, Vural A, van de Warrenburg BP, Durr A, La Piana R, Timmann D; PROSPAX Consortium; Schüle R, Synofzik M, Santorelli FM, Cocozza S. Scaravilli A, et al. Among authors: ricca i. Mov Disord. 2024 Aug;39(8):1343-1351. doi: 10.1002/mds.29871. Epub 2024 Jun 7. Mov Disord. 2024. PMID: 38847051
Novel CLN3 mutation causing autophagic vacuolar myopathy.
Cortese A, Tucci A, Piccolo G, Galimberti CA, Fratta P, Marchioni E, Grampa G, Cereda C, Grieco G, Ricca I, Pittman A, Ciscato P, Napoli L, Lucchini V, Ripolone M, Violano R, Fagiolari G, Mole SE, Hardy J, Moglia A, Moggio M. Cortese A, et al. Among authors: ricca i. Neurology. 2014 Jun 10;82(23):2072-6. doi: 10.1212/WNL.0000000000000490. Epub 2014 May 14. Neurology. 2014. PMID: 24827497 Free PMC article.
A next generation sequencing-based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21.
Riso V, Galatolo D, Barghigiani M, Galosi S, Tessa A, Ricca I, Rossi S, Caputi C, Cioffi E, Leuzzi V, Casali C, Santorelli FM, Silvestri G. Riso V, et al. Among authors: ricca i. Eur J Neurol. 2021 Aug;28(8):2784-2788. doi: 10.1111/ene.14868. Epub 2021 May 27. Eur J Neurol. 2021. PMID: 33851480 Free PMC article.
Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations.
De Michele G, Galatolo D, Galosi S, Mignarri A, Silvestri G, Casali C, Leuzzi V, Ricca I, Barghigiani M, Tessa A, Cioffi E, Caputi C, Riso V, Dotti MT, Saccà F, De Michele G, Cocozza S, Filla A, Santorelli FM. De Michele G, et al. Among authors: ricca i. J Neurol. 2022 Mar;269(3):1476-1484. doi: 10.1007/s00415-021-10712-5. Epub 2021 Jul 22. J Neurol. 2022. PMID: 34292398 Free PMC article.
Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohort.
Satolli S, Rossi S, Vegezzi E, Pellerin D, Manca ML, Barghigiani M, Battisti C, Bilancieri G, Bruno G, Capacci E, Casali C, Ceravolo R, Cocozza S, Cotti Piccinelli S, Criscuolo C, Danzi MC, De Micco R, De Michele G, Dicaire MJ, Falcone GMI, Fancellu R, Ferchichi Y, Ferrari C, Filla A, Fini N, Govoni A, Lo Vecchio F, Malandrini A, Mignarri A, Musumeci O, Nesti C, Pappatà S, Pellecchia MT, Perna A, Petrucci A, Pomponi MG, Ravenni R, Ricca I, Rufa A, Tabolacci E, Tessa A, Tessitore A, Zuchner S, Silvestri G, Cortese A, Brais B, Santorelli FM. Satolli S, et al. Among authors: ricca i. J Neurol. 2024 Aug;271(8):5478-5488. doi: 10.1007/s00415-024-12506-x. Epub 2024 Jun 17. J Neurol. 2024. PMID: 38886208
72 results