MONFRINI, EDOARDO

MONFRINI, EDOARDO  

Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti  

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Titolo Data di pubblicazione Autori Tipo File Abstract
A case of 18p chromosomal deletion encompassing GNAL in a patient with dystonia-parkinsonism 2024 Monfrini, EdoardoFinelli, Palma + Article (author) -
Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia 2024 Monfrini, EdoardoBonato, GiuliaBrescia, GloriaCantarella, GiovannaReale, Chiara + 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) -
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: Lack of Association between TWNK Rare Variants and Parkinson's Disease in a Chinese Cohort 2023 Monfrini E. + 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) -
Brain Calcifications: Genetic, Molecular, and Clinical Aspects 2023 Monfrini E.Arienti F.Rinchetti P.Lotti F. + Article (author) -
Recent Advances in the Treatment of Genetic Forms of Parkinson’s Disease: Hype or Hope? 2023 Rossi J.Monfrini E. + Article (author) -
Case report: Asp194Ala variant in MFN2 is associated with ALS-FTD in an Italian family 2023 Monfrini E.Ronchi D. + Article (author) -
Levodopa responsive asymmetric parkinsonism as clinical presentation of progranulin gene mutation 2023 Monfrini, Edoardo + Article (author) -
Tremulous spastic ataxia in a patient with a homozygous truncating SYNE1 variant 2023 Monfrini, EdoardoDe Marco, PaoloComi, Giacomo P + Article (author) -
Speech, Gait, and Vestibular Function in Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome 2023 Monfrini E.Ronchi D. + Article (author) -
GABRB1‐related early onset developmental and epileptic encephalopathy: Clinical trajectory and novel de novo mutation 2023 Monfrini, EdoardoBorellini, LindaYahya, VidalMameli, FrancescaComi, Giacomo Pietro + Article (author) -
Chorea-Acanthocytosis Presenting with Parkinsonism-Dystonia without Chorea 2023 Monfrini, Edoardo + Article (author) -
Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency 2023 Monfrini, EdoardoBiella, FabioBrescia, GloriaComi, Giacomo P + Article (author) -
A form of inherited hyperferritinemia associated with bi-allelic pathogenic variants of STAB1 2023 Edoardo Monfrini + Article (author) -
Early-onset inherited dystonias versus late-onset idiopathic dystonias: Same or different biological mechanisms? 2023 Monfrini, Edoardo + Book Part (author) -
Genetic Evidence for Endolysosomal Dysfunction in Parkinson’s Disease: A Critical Overview 2023 Yahya V.Monfrini E. + Article (author) -
Dysautonomia in Parkinson's Disease: Impact of Glucocerebrosidase Gene Mutations on Cardiovascular Autonomic Control 2022 Carandina, AngelicaLazzeri, GiuliaRodrigues, Gabriel DiasFranco, GiuliaMonfrini, EdoardoArienti, FedericaFrattini, EmanueleTrezzi, IlariaBellocchi, ChiaraFurlan, LudovicoMontano, NicolaTobaldini, Eleonora + Article (author) -