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Page 1
Molecular Mechanism of Sirtuin 1 Modulation by the AROS Protein.
Weiss S, Adolph RS, Schweimer K, DiFonzo A, Meleshin M, Schutkowski M, Steegborn C. Weiss S, et al. Int J Mol Sci. 2022 Oct 23;23(21):12764. doi: 10.3390/ijms232112764. Int J Mol Sci. 2022. PMID: 36361557 Free PMC article.
Response to: Are there two disjunct episignatures for KMT2B-related disease?
Monfrini E, Ciolfi A, Ferilli M, Tartaglia M, Di Fonzo A. Monfrini E, et al. Among authors: di fonzo a. Brain Commun. 2024 Dec 9;6(6):fcae384. doi: 10.1093/braincomms/fcae384. eCollection 2024. Brain Commun. 2024. PMID: 39659970 Free PMC article. No abstract available.
Lewy pathology formation in patient-derived GBA1 Parkinson's disease midbrain organoids.
Frattini E, Faustini G, Lopez G, Carsana EV, Tosi M, Trezzi I, Magni M, Soldà G, Straniero L, Facchi D, Samarani M, Martá-Ariza M, De Luca CMG, Vezzoli E, Pittaro A, Stepanyan A, Silipigni R, Rosety I, Schwamborn JC, Sardi SP, Moda F, Corti S, Comi GP, Blandini F, Tritsch NX, Bortolozzi M, Ferrero S, Cribiù FM, Wisniewski T, Asselta R, Aureli M, Bellucci A, Di Fonzo A. Frattini E, et al. Among authors: di fonzo a. Brain. 2024 Nov 21:awae365. doi: 10.1093/brain/awae365. Online ahead of print. Brain. 2024. PMID: 39570889
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: di fonzo a. 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: di fonzo a. 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. Among authors: di fonzo a. 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: di fonzo a. Neurol Sci. 2025 Jan;46(1):469-472. doi: 10.1007/s10072-024-07761-9. Epub 2024 Sep 19. Neurol Sci. 2025. PMID: 39294407
197 results