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Page 1
Dystonic Tremor as Main Clinical Manifestation of SCA21.
Yahya V, Baiata C, Monfrini E, Correia S, Brescia G, Di Fonzo A, Moro E. Yahya V, et al. Among authors: monfrini e. Mov Disord Clin Pract. 2024 Nov;11(11):1445-1450. doi: 10.1002/mdc3.14220. Epub 2024 Sep 28. Mov Disord Clin Pract. 2024. PMID: 39340213 Free PMC article.
Investigating the prevalence of MFN2 mutations in amyotrophic lateral sclerosis: insights from an Italian cohort.
Abati E, Gagliardi D, Manini A, Del Bo R, Ronchi D, Meneri M, Beretta F, Sarno A, Rizzo F, Monfrini E, Di Fonzo A, Pellecchia MT, Brusati A, Silani V, Comi GP, Ratti A, Verde F, Ticozzi N, Corti S. Abati E, et al. Among authors: monfrini e. Brain Commun. 2024 Sep 23;6(5):fcae312. doi: 10.1093/braincomms/fcae312. eCollection 2024. Brain Commun. 2024. PMID: 39315308 Free PMC article.
RAB32 mutation in Parkinson's disease.
Monfrini E, Minardi R, Valzania F, Calandra-Buonaura G, Mandich P, Di Fonzo A; ParkNet Study Group. Monfrini E, et al. Lancet Neurol. 2024 Oct;23(10):961-962. doi: 10.1016/S1474-4422(24)00324-7. Lancet Neurol. 2024. PMID: 39304252 No abstract available.
Obsessive-compulsive disorder as a first manifestation of Ataxia with Oculomotor Apraxia type 2 due to a novel mutation of SETX gene.
Galota F, Di Rauso G, Sireci F, Castellucci A, Cavallieri F, Monfrini E, Fioravanti V, Campanini I, Merlo A, Napoli M, Cavazzuti L, Grisanti S, Ferrari S, Di Fonzo A, Valzania F. Galota F, et al. Among authors: monfrini e. Neurol Sci. 2024 Sep 19. doi: 10.1007/s10072-024-07761-9. Online ahead of print. Neurol Sci. 2024. PMID: 39294407
Family History in Parkinson's Disease: A National Cross-Sectional Study.
Arienti F, Casazza G, Franco G, Lazzeri G, Monfrini E, Di Maio A, Erro R, Barone P, Tamma F, Caputo E, Volontè MA, Cacciaguerra L, Pilotto A, Padovani A, Comi C, Magistrelli L, Valzania F, Cavallieri F, Avanzino L, Marchese R, Sensi M, Carroli G, Eleopra R, Cilia R, Spagnolo F, Tessitore A, De Micco R, Ceravolo R, Palermo G, Malaguti MC, Lopiano L, Tocco P, Sorbera C, Tinazzi M, Ciammola A, Ottaviani D, Valente EM, Albanese A, Blandini F, Canesi M, Antonini A, Carecchio M, Fetoni V, Colosimo C, Volpe D, Tambasco N, Cossu G, Zappia M; Italian Study Group on Family History in PD; Di Fonzo A. Arienti F, et al. Among authors: monfrini e. Mov Disord Clin Pract. 2024 Nov;11(11):1434-1440. doi: 10.1002/mdc3.14206. Epub 2024 Sep 13. Mov Disord Clin Pract. 2024. PMID: 39269187 Free PMC article.
Soft cerebellar signs unveil RARS2-related epilepsy.
Yahya V, Dilena R, Del Bo R, Magni M, Biella F, Salani S, Fortunato F, Scola E, Di Fonzo A, Monfrini E. Yahya V, et al. Among authors: monfrini e. Epileptic Disord. 2024 Aug;26(4):540-543. doi: 10.1002/epd2.20237. Epub 2024 May 11. Epileptic Disord. 2024. PMID: 38733322 No abstract available.
Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia.
Monfrini E, Avanzino L, Palermo G, Bonato G, Brescia G, Ceravolo R, Cantarella G, Mandich P, Prokisch H, Storm Van's Gravesande K, Straccia G, Elia A, Reale C, Panteghini C, Zorzi G, Eleopra R, Erro R, Carecchio M, Garavaglia B, Zech M, Romito L, Di Fonzo A. Monfrini E, et al. Mov Disord Clin Pract. 2024 Jan;11(1):87-93. doi: 10.1002/mdc3.13927. Epub 2023 Dec 12. Mov Disord Clin Pract. 2024. PMID: 38291845 Free PMC article.
73 results