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Page 1
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.
A case of 18p chromosomal deletion encompassing GNAL in a patient with dystonia-parkinsonism.
Di Rauso G, Cavallieri F, Monfrini E, Fraternali A, Fioravanti V, Grisanti S, Gessani A, Campanini I, Merlo A, Toschi G, Napoli M, Pascarella R, Silipigni R, Finelli P, Paul JJ, Bauer P, Versari A, Di Fonzo A, Valzania F. Di Rauso G, et al. Among authors: monfrini e. J Mov Disord. 2024 Jan 23. doi: 10.14802/jmd.23222. Online ahead of print. J Mov Disord. 2024. PMID: 38258373 Free article. No abstract available.
Speech, Gait, and Vestibular Function in Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome.
Di Rauso G, Castellucci A, Cavallieri F, Tozzi A, Fioravanti V, Monfrini E, Gessani A, Rossi J, Campanini I, Merlo A, Ronchi D, Napoli M, Pascarella R, Grisanti S, Ferrulli G, Sabadini R, Di Fonzo A, Ghidini A, Valzania F. Di Rauso G, et al. Among authors: monfrini e. Brain Sci. 2023 Oct 17;13(10):1467. doi: 10.3390/brainsci13101467. Brain Sci. 2023. PMID: 37891834 Free PMC article.
Are patients with GBA-Parkinson disease good candidates for deep brain stimulation? A longitudinal multicentric study on a large Italian cohort.
Avenali M, Zangaglia R, Cuconato G, Palmieri I, Albanese A, Artusi CA, Bozzali M, Calandra-Buonaura G, Cavallieri F, Cilia R, Cocco A, Cogiamanian F, Colucci F, Cortelli P, Di Fonzo A, Eleopra R, Giannini G, Imarisio A, Imbalzano G, Ledda C, Lopiano L, Malaguti MC, Mameli F, Minardi R, Mitrotti P, Monfrini E, Spagnolo F, Tassorelli C, Valentino F, Valzania F, Pacchetti C, Valente EM; PARKNET Study Group. Avenali M, et al. Among authors: monfrini e. J Neurol Neurosurg Psychiatry. 2024 Mar 13;95(4):309-315. doi: 10.1136/jnnp-2023-332387. J Neurol Neurosurg Psychiatry. 2024. PMID: 37879897 Free PMC article.
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.
Di Fonzo A, Percetti M, Monfrini E, Palmieri I, Albanese A, Avenali M, Bartoletti-Stella A, Blandini F, Brescia G, Calandra-Buonaura G, Campopiano R, Capellari S, Colangelo I, Comi GP, Cuconato G, Ferese R, Galandra C, Gambardella S, Garavaglia B, Gaudio A, Giardina E, Invernizzi F, Mandich P, Mineri R, Panteghini C, Reale C, Trevisan L, Zampatti S, Cortelli P, Valente EM; PARKNET study group. Di Fonzo A, et al. Among authors: monfrini e. Mov Disord. 2023 Dec;38(12):2241-2248. doi: 10.1002/mds.29617. Epub 2023 Sep 26. Mov Disord. 2023. PMID: 37750340
55 results