MONFRINI, EDOARDO

MONFRINI, EDOARDO  

Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti  

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Risultati 1 - 20 di 69 (tempo di esecuzione: 0.0 secondi).
Titolo Data di pubblicazione Autori Tipo File Abstract
RAB3A variants in ataxia and other neurodegenerative disorders 2025 Percetti, MarcoMonfrini, EdoardoDel Bo, Roberto + Article (author) -
Unraveling the role of GBA1 genotype in axial signs response to subthalamic deep brain stimulation 2025 Cocco A.Monfrini E.Frattini E.Cogiamanian F.Arighi A.Cocco A.Boni L.Verde F.Triulzi F.Ticozzi N.Silani V.Ratti A.Poletti B.Caronni A.Baglio F.Moda F. + Article (author) -
LONG-NEXT: A new accurate and efficient NGS-based method for GBA1 analysis in Parkinson disease 2025 Percetti, MarcoPagliarani, SerenaTenace, SaraMonfrini, Edoardo + Article (author) -
Adult‐Onset Dystonia‐Parkinsonism: Do Not Forget SERAC1 2025 Scacciatella, GiuliaMasetti, CostanzaYahya, VidalTreddenti, MauroBocci, TommasoCampiglio, LauraZardoni, ManuelaPengo, MartaDel Bo, RobertoMonfrini, EdoardoPriori, Alberto + Article (author) -
Childhood-onset focal epilepsy and acute para-infectious encephalopathy in a patient with biallelic QARS1 variants 2025 Vidal YahyaEdoardo MonfriniRoberto Del BoRobertino Dilena + Article (author) -
Genetics in Parkinson's disease, state-of-the-art and future perspectives 2024 Monfrini E. + Article (author) -
Unleashing the potential of mRNA therapeutics for inherited neurological diseases 2024 Monfrini, EdoardoBaso, GiacomoRonchi, DarioMeneri, MegiGagliardi, DeliaVerde, FedericoTicozzi, NicolaRatti, AntoniaComi, Giacomo POttoboni, LindaCorti, Stefania + Article (author) -
Reply to: Comment on Soft cerebellar signs unveil RARS2-related epilepsy 2024 Yahya, VidalDilena, RobertinoMonfrini, Edoardo Article (author) -
Are patients with GBA–Parkinson disease good candidates for deep brain stimulation? A longitudinal multicentric study on a large Italian cohort 2024 Monfrini, Edoardo + Article (author) -
Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia 2024 Monfrini, EdoardoBonato, GiuliaBrescia, GloriaCantarella, GiovannaReale, Chiara + Article (author) -
Investigating the prevalence of MFN2 mutations in amyotrophic lateral sclerosis: insights from an Italian cohort 2024 Abati, ElenaGagliardi, DeliaManini, AriannaDel Bo, RobertoRonchi, DarioMeneri, MegiRizzo, FedericaMonfrini, EdoardoSilani, VincenzoComi, Giacomo PietroRatti, AntoniaVerde, FedericoTicozzi, NicolaCorti, Stefania + Article (author) -
Dystonic Tremor as Main Clinical Manifestation of SCA21 2024 Yahya, VidalMonfrini, EdoardoBrescia, Gloria + Article (author) -
RAB32 mutation in Parkinson's disease 2024 Monfrini, Edoardo + Article (author) -
Soft cerebellar signs unveil RARS2‐related epilepsy 2024 Vidal YahyaRobertino DilenaRoberto Del BoManuela MagniFabio BiellaSabrina SalaniFrancesco FortunatoEdoardo Monfrini + Article (author) -
A case of 18p chromosomal deletion encompassing GNAL in a patient with dystonia-parkinsonism 2024 Monfrini, EdoardoFinelli, Palma + Article (author) -
Chorea-Acanthocytosis Presenting with Parkinsonism-Dystonia without Chorea 2023 Monfrini, Edoardo + Article (author) -
Deconstructing speech alterations in episodic ataxia type 2: Perceptual-acoustic analysis in a case due to CACNA1A gene mutation 2023 Monfrini, Edoardo + Article (author) -
Early-onset inherited dystonias versus late-onset idiopathic dystonias: Same or different biological mechanisms? 2023 Monfrini, Edoardo + Book Part (author) -
Tremulous spastic ataxia in a patient with a homozygous truncating SYNE1 variant 2023 Monfrini, EdoardoDe Marco, PaoloComi, Giacomo P + Article (author) -
Reply to: Lack of Association between TWNK Rare Variants and Parkinson's Disease in a Chinese Cohort 2023 Percetti M.Monfrini E. + Article (author) -