MONFRINI, EDOARDO

MONFRINI, EDOARDO  

Dipartimento di Scienze Cliniche e di Comunità  

Risultati 1 - 20 di 21 (tempo di esecuzione: 0.003 secondi).
Titolo Data di pubblicazione Autore(i) Tipo File Abstract
A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation 7-nov-2020 Manini, AriannaBocci, TommasoMonfrini, EdoardoRonchi, DarioFranco, GiuliaDe Rosa, AnnaPriori, AlbertoCorti, StefaniaComi, Giacomo PietroBresolin, NereoBasso, Manuela + Article (author) -
Childhood-onset dystonia with cerebellar signs: expanding the spectrum of GNAL mutations 1-gen-2020 Monfrini E. + Article (author) -
Clinical reasoning: a 75-year-old man with parkinsonism, mood depression, and weight loss 20-mar-2018 Frattini E.Monfrini E.Arcudi S.Bresolin N.Saetti M. C.Di Fonzo A. + Article (author) -
Clinical uses of Bupropion in patients with Parkinson’s disease and comorbid depressive or neuropsychiatric symptoms: a scoping review 5-apr-2022 vismara matteoBeatrice BenattiGregorio NicoliniIlaria CovaEdoardo MonfriniAlberto PrioriBernardo Dell’Osso + Article (author) -
Complex genomic alterations and intellectual disability: an interpretative challenge 1-gen-2020 Silipigni R.Milani D.Tolva G.Monfrini E.Marchisio P. G. + Article (author) -
A de novo C19orf12 heterozygous mutation in a patient with MPAN 1-mar-2017 E. MonfriniD. RonchiR. DilenaA. BordoniN. BresolinG. P. ComiS. CortiA. Di Fonzo + Article (author) -
Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency 1-gen-2020 Ronchi, DarioMonfrini, EdoardoBonato, SaraCinnante, ClaudiaSalani, SabrinaBordoni, AndreinaFortunato, FrancescoCorti, StefaniaBresolin, NereoComi, Giacomo P + Article (author) -
Expanding the genotypic and phenotypic spectrum of Beta-propeller-associated neurodegeneration (BPAN) 1-gen-2021 Monfrini, EdoardoBonato, SaraFrattini, EmanueleFranco, GiuliaCorti, StefaniaComi, Giacomo PietroBresolin, Nereo + Article (author) -
Late-onset leukoencephalopathy in a patient with recessive EARS2 mutations 13-lug-2020 Edoardo MonfriniDario RonchiGiulia FrancoLetizia StranieroFederica ArientiStefano DugaGiacomo Pietro ComiNereo Bresolin + Article (author) -
Microscopic Polyangiitis With Selective Involvement of Central and Peripheral Nervous System : A Case Report 28-apr-2020 Arienti F.Franco G.Monfrini E.Santaniello A.Bresolin N.Saetti M. C. + Article (author) -
Mutational analysis of COQ2 in patients with MSA in Italy 1-set-2016 D. RonchiG. FrancoR. Del BoF. FortunatoL. BorelliniI. TrezziG. Monzio CompagnoniE. MonfriniE. FrattiniS. BonatoA. PrioriN. BresolinS. CortiG.P. Comi + Article (author) -
Mutations in TMEM230 are rare in autosomal dominant Parkinson's disease 1-gen-2017 E. MonfriniG. FrancoI. TrezziL. BorelliniE. FrattiniD. RonchiG. Monzio CompagnoniF. CogiamanianG. ArdolinoN. BresolinG.P. ComiS. CortiA. Di Fonzo + Article (author) -
Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy 1-mar-2019 Monfrini, EdoardoStraniero, LetiziaBonato, SaraMonzio Compagnoni, GiacomoBordoni, AndreinaRinchetti, PaolaSilipigni, RosamariaRonchi, DarioCorti, StefaniaComi, Giacomo P.Bresolin, NereoDuga, StefanoDi Fonzo, Alessio + Article (author) -
A novel homozygous PLA2G6 mutation causes dystonia-parkinsonism 1-mar-2015 E. MonfriniG. FrancoL. BorelliniI. TrezziG. Monzio CompagnoniD. RonchiS. BonatoN. BresolinS. CortiG.P. Comi + Article (author) -
A novel homozygous VPS11 variant may cause generalized dystonia 1-gen-2021 Monfrini, EdoardoCogiamanian, FilippoSalani, SabrinaStraniero, LetiziaCarsana, EmmaBorellini, LindaBiella, FabioBresolin, NereoCorti, StefaniaDuga, StefanoComi, Giacomo PAureli, Massimo + Article (author) -
Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk 9-mar-2022 Straniero, LetiziaRimoldi, ValeriaMonfrini, EdoardoAureli, MassimoDuga, StefanoAsselta, Rosanna + Article (author) -
SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy 1-mag-2020 Monfrini E.Frosini D.Palermo G.Biella F.Ronchi D.Duga S.Taroni F.Corti S.Comi G. P.Bresolin N. + Article (author) -
Systemic involvement in adult-onset leukoencephalopathy with intracranial calcifications and cysts (Labrune syndrome) with a novel mutation of the SNORD118 gene 1-nov-2020 Bonomo G.Monfrini E.Borellini L.Arienti F.Saetti M. C.Locatelli M. + Article (author) -
Unravelling Genetic Factors Underlying Corticobasal Syndrome: A Systematic Review 1-gen-2021 Arienti, FedericaLazzeri, GiuliaVizziello, MariaMonfrini, EdoardoBresolin, NereoSaetti, Maria CristinaFranco, Giulia + Article (author) -
VPS13C-associated Parkinson's disease : Two novel cases and review of the literature 1-gen-2022 Monfrini E.Comi G. P. + Article (author) -