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Did you mean e manfrini (122 results)?
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.
Brain Calcifications: Genetic, Molecular, and Clinical Aspects.
Monfrini E, Arienti F, Rinchetti P, Lotti F, Riboldi GM. Monfrini E, et al. Int J Mol Sci. 2023 May 19;24(10):8995. doi: 10.3390/ijms24108995. Int J Mol Sci. 2023. PMID: 37240341 Free PMC article. Review.
Brain calcifications can be primary (idiopathic or genetic) or secondary to various pathological conditions (e.g., calcium-phosphate metabolism derangement, autoimmune disorders and infections, among others). ...
Brain calcifications can be primary (idiopathic or genetic) or secondary to various pathological conditions (e.g., calcium-phosphate …
Special Issue "Neurogenetics in Neurology".
Orlacchio A. Orlacchio A. Int J Mol Sci. 2024 Jan 15;25(2):1061. doi: 10.3390/ijms25021061. Int J Mol Sci. 2024. PMID: 38256134 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. 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.
Genetic Evidence for Endolysosomal Dysfunction in Parkinson's Disease: A Critical Overview.
Yahya V, Di Fonzo A, Monfrini E. Yahya V, et al. Int J Mol Sci. 2023 Mar 28;24(7):6338. doi: 10.3390/ijms24076338. Int J Mol Sci. 2023. PMID: 37047309 Free PMC article. Review.
Moreover, an extensive search for PD risk variants revealed strong risk variants in several lysosomal genes (e.g., GBA1, SMPD1, TMEM175, and SCARB2) highlighting the key role of lysosomal dysfunction in PD pathogenesis. ...
Moreover, an extensive search for PD risk variants revealed strong risk variants in several lysosomal genes (e.g., GBA1, SMPD1, TMEM1 …
VPS13C-associated Parkinson's disease: Two novel cases and review of the literature.
Monfrini E, Spagnolo F, Canesi M, Seresini A, Rini A, Passarella B, Percetti M, Seia M, Goldwurm S, Cereda V, Comi GP, Pezzoli G, Di Fonzo A. Monfrini E, et al. Parkinsonism Relat Disord. 2022 Jan;94:37-39. doi: 10.1016/j.parkreldis.2021.11.031. Epub 2021 Dec 1. Parkinsonism Relat Disord. 2022. PMID: 34875562 Review.
In this article, we report the clinical and genetic findings of two subjects affected by early-onset PD carrying three novel VPS13C mutations (i.e., one homozygous and one compound heterozygous), and review the previous literature on the genetic and clinical findings of VP …
In this article, we report the clinical and genetic findings of two subjects affected by early-onset PD carrying three novel VPS13C mutation …
HOPS-associated neurological disorders (HOPSANDs): linking endolysosomal dysfunction to the pathogenesis of dystonia.
Monfrini E, Zech M, Steel D, Kurian MA, Winkelmann J, Di Fonzo A. Monfrini E, et al. Brain. 2021 Oct 22;144(9):2610-2615. doi: 10.1093/brain/awab161. Brain. 2021. PMID: 33871597 Review.
Recent publications linked mutations in genes encoding HOPS complex proteins with the aetiopathogenesis of inherited dystonias (i.e. VPS16, VPS41, and VPS11). Functional and microstructural studies conducted on patient-derived fibroblasts carrying mutations of HOPS complex …
Recent publications linked mutations in genes encoding HOPS complex proteins with the aetiopathogenesis of inherited dystonias (i.e. …
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. Brain Sci. 2023 Oct 17;13(10):1467. doi: 10.3390/brainsci13101467. Brain Sci. 2023. PMID: 37891834 Free PMC article.
(1) Background: Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is characterized by late-onset cerebellar ataxia, bilateral vestibulopathy, and sensory neuronopathy mostly due to biallelic RFC1 expansion. (2) Objectives: The aim of this case series is …
(1) Background: Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is characterized by late-onset cerebellar ataxi …
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. 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.
Technological Solutions for Human Movement Analysis in Obese Subjects: A Systematic Review.
Monfrini R, Rossetto G, Scalona E, Galli M, Cimolin V, Lopomo NF. Monfrini R, et al. Sensors (Basel). 2023 Mar 16;23(6):3175. doi: 10.3390/s23063175. Sensors (Basel). 2023. PMID: 36991886 Free PMC article. Review.
The search for articles was carried out on electronic databases, i.e., PubMed, Scopus, and Web of Science. We included observational studies performed on adult obese subjects whenever reporting quantitative information concerning their movement. ...
The search for articles was carried out on electronic databases, i.e., PubMed, Scopus, and Web of Science. We included observational …
32 results