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408 results

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Page 1
Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients.
Benzoni C, Moscatelli M, Farina L, Magri S, Ciano C, Scaioli V, Alverà S, Cammarata G, Bianchi-Marzoli S, Castellani M, Zito FM, Marotta G, Piacentini S, Villacara A, Mantegazza R, Gellera C, Durães J, Gouveia A, Matos A, do Carmo Macário M, Pareyson D, Taroni F, Di Bella D, Salsano E. Benzoni C, et al. Among authors: taroni f. J Neurol. 2023 Sep;270(9):4219-4234. doi: 10.1007/s00415-023-11762-7. Epub 2023 May 12. J Neurol. 2023. PMID: 37171481
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Record CJ, Skorupinska M, Laura M, Rossor AM, Pareyson D, Pisciotta C, Feely SME, Lloyd TE, Horvath R, Sadjadi R, Herrmann DN, Li J, Walk D, Yum SW, Lewis RA, Day J, Burns J, Finkel RS, Saporta MA, Ramchandren S, Weiss MD, Acsadi G, Fridman V, Muntoni F, Poh R, Polke JM, Zuchner S, Shy ME, Scherer SS, Reilly MM; Inherited Neuropathies Consortium—Rare Disease Clinical Research Network. Record CJ, et al. Brain. 2023 Oct 3;146(10):4336-4349. doi: 10.1093/brain/awad187. Brain. 2023. PMID: 37284795 Free PMC article.
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A. Cunha P, et al. Among authors: taroni f. Am J Hum Genet. 2023 Jul 6;110(7):1098-1109. doi: 10.1016/j.ajhg.2023.05.009. Epub 2023 Jun 9. Am J Hum Genet. 2023. PMID: 37301203 Free PMC article.
Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy.
Bertini A, Gentile L, Cavallaro T, Tozza S, Saveri P, Russo M, Massucco S, Falzone YM, Bellone E, Taioli F, Geroldi A, Occhipinti G, Ferrarini M, Cavalca E, Crivellari L, Mandich P, Balistreri F, Magri S, Taroni F, Previtali SC, Schenone A, Grandis M, Manganelli F, Fabrizi GM, Mazzeo A, Pareyson D, Pisciotta C. Bertini A, et al. Among authors: taroni f. J Neurol Neurosurg Psychiatry. 2024 Dec 16;96(1):47-53. doi: 10.1136/jnnp-2024-333842. J Neurol Neurosurg Psychiatry. 2024. PMID: 38839277 Free PMC article.
TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations.
Kosmanopoulos GP, Donohue JK, Hoke M, Thomas S, Peyton MA, Vo L, Crawford TO, Sadjadi R, Herrmann DN, Yum SW, Reilly MM, Scherer SS, Finkel RS, Lewis RA, Pareyson D, Pisciotta C, Walk D, Shy ME, Sumner CJ; Inherited Neuropathies Consortium - Rare Disease Clinical Research Network; McCray BA. Kosmanopoulos GP, et al. Brain. 2025 Jan 7;148(1):238-251. doi: 10.1093/brain/awae201. Brain. 2025. PMID: 38917025
Next-generation sequencing in pediatric-onset epilepsies: Analysis with target panels and personalized therapeutic approach.
Castellotti B, Ragona F, Freri E, Messina G, Magri S, Previtali R, Solazzi R, Franceschetti S, Taroni F, Canafoglia L, Gellera C, Granata T, DiFrancesco JC. Castellotti B, et al. Among authors: taroni f. Epilepsia Open. 2024 Oct;9(5):1922-1930. doi: 10.1002/epi4.13039. Epub 2024 Aug 31. Epilepsia Open. 2024. PMID: 39215763 Free PMC article.
Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disorders.
Cozzi M, Magri S, Tedesco B, Patelli G, Ferrari V, Casarotto E, Chierichetti M, Pramaggiore P, Cornaggia L, Piccolella M, Galbiati M, Rusmini P, Crippa V, Mandrioli J, Pareyson D, Pisciotta C, D'Arrigo S, Ratti A, Nanetti L, Mariotti C, Sarto E, Pensato V, Gellera C, Di Bella D, Cristofani RM, Taroni F, Poletti A. Cozzi M, et al. Among authors: taroni f. Cell Death Dis. 2024 Sep 27;15(9):692. doi: 10.1038/s41419-024-07096-5. Cell Death Dis. 2024. PMID: 39333504 Free PMC article.
408 results