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2014 1
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Page 1
A Practical Approach to Early-Onset Parkinsonism.
Riboldi GM, Frattini E, Monfrini E, Frucht SJ, Di Fonzo A. Riboldi GM, et al. Among authors: monfrini e. J Parkinsons Dis. 2022;12(1):1-26. doi: 10.3233/JPD-212815. J Parkinsons Dis. 2022. PMID: 34569973 Free PMC article. Review.
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.
Adult-onset KMT2B-related dystonia.
Monfrini E, Ciolfi A, Cavallieri F, Ferilli M, Soliveri P, Pedace L, Erro R, Del Sorbo F, Valzania F, Fioravanti V, Cossu G, Pellegrini M, Salviati L, Invernizzi F, Oppo V, Murgia D, Giometto B, Picillo M, Garavaglia B, Morgante F, Tartaglia M, Carecchio M, Di Fonzo A. Monfrini E, et al. Brain Commun. 2022 Oct 26;4(6):fcac276. doi: 10.1093/braincomms/fcac276. eCollection 2022. Brain Commun. 2022. PMID: 36483457 Free PMC article.
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.
The genetic and phenotypic spectrum of GABRB1-related disorders.
Millevert C, Kan ASH, Hanke M, Koko M, Omidvar ME, Hedrich UBS, Wuttke TV, Barišić N, Lagae L, Aledo-Serrano Á, Niehoff EM, Platzer K, Zacher P, Polster T, Dilena R, Monfrini E, Geneviève D, Roubertie A, Bruel AL, Tran Mau-Them F, Dasouki M, Cohen S, Helbig I, Harrison AG, Colin E, Dubbs HA, Marsh ED, Lebon S, He N, Meng H, Chebib M, Møller RS, Marini C, Ahring PK, Lerche H, Weckhuysen S. Millevert C, et al. Among authors: monfrini e. Brain. 2025 Jun 5:awaf213. doi: 10.1093/brain/awaf213. Online ahead of print. Brain. 2025. PMID: 40472023
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.
Magrinelli F, Tesson C, Angelova PR, Rodriguez JA, Scardamaglia A, O'Callaghan B, Lowe SA, Salazar-Villacorta A, Chung BH, Jaconelli M, Vona B, Esteras N, Mammana A, Shimazu J, Kwong AK, Courtin T, Alavi S, Maroofian R, Nirujogi R, Severino M, Monfrini E, Rocca C, Lewis PA, Efthymiou S, Buchert R, Sofan L, Lis P, Pinon C, Breedveld GJ, Chui MM, Murphy D, Pitz V, Makarious MB, Baiardi S, Volin M, Cassar M, Hassan BA, Iftikhar S, Bauer P, Tinazzi M, Svetel M, Samanci B, Hanağası HA, Bilgiç B, Cavallieri F, Santangelo M, Obeso JA, Kurtis MM, Cogan G, Kiziltan G, Gül-Demirkale T, Tireli H, Yüksel GA, Yalçın-Cakmakli G, Elibol B, Barišić N, Ng EW, Fan SS, Hershkovitz T, Weiss K, Alvi JR, Sultan T, Alkhawaja IA, Froukh T, Alrukban HAE, Fauth C, Schatz UA, Zöggeler T, Zech M, Stals K, Varghese V, Gandhi S, Blauwendraat C, Hardy JA, Di Fonzo A, Bonifati V, Haack TB, Bertoli-Avella AM, Lesage S, Başak AN, Steinfeld R, Parchi P, Jepson JEC, Alessi DR; PSMF1 Study Group; Brice A, Steller H, Abramov AY, Bhatia KP, Houlden H. Magrinelli F, et al. Among authors: monfrini e. medRxiv [Preprint]. 2025 Jul 21:2024.06.19.24308302. doi: 10.1101/2024.06.19.24308302. medRxiv. 2025. PMID: 39148840 Free PMC article. Preprint.
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M, Dzinovic I, Skorvanek M, Harrer P, Necpal J, Kopajtich R, Kittke V, Tilch E, Zhao C, Tsoma E, Sorrentino U, Indelicato E, Stehr A, Saparov A, Abela L, Adamovicova M, Afenjar A, Assmann B, Baloghova J, Baumann M, Berutti R, Brezna Z, Brugger M, Brunet T, Cogne B, Colangelo I, Conboy E, Distelmaier F, Eckenweiler M, Garavaglia B, Geerlof A, Graf E, Hackenberg A, Harvanova D, Haslinger B, Havrankova P, Hoffmann GF, Janzarik WG, Keren B, Kolnikova M, Kolokotronis K, Kosutzka Z, Koy A, Krenn M, Krygier M, Kusikova K, Maier O, Meitinger T, Mertes C, Milenkovic I, Monfrini E, Santos Dias Mourao A, Musacchio T, Nizon M, Ostrozovicova M, Pavlov M, Prihodova I, Rektorova I, Romito LM, Rybanska B, Sadr-Nabavi A, Schwenger S, Shoeibi A, Sitzberger A, Smirnov D, Svantnerova J, Tautanova R, Toelle SP, Ulmanova O, Vetrini F, Vill K, Wagner M, Weise D, Zorzi G, Di Fonzo A, Oexle K, Berweck S, Mall V, Boesch S, Schormair B, Prokisch H, Jech R, Winkelmann J. Zech M, et al. Among authors: monfrini e. Brain. 2025 Aug 1;148(8):2827-2846. doi: 10.1093/brain/awaf059. Brain. 2025. PMID: 39937650 Free PMC article.
90 results