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Mostrati risultati da 21 a 40 di 42
Titolo Data di pubblicazione Autori Tipo File Abstract
The Italian registry of limb girdle muscular dystrophy : natural history, genotype-phenotype correlations and outcome measures 2014 F. MagriA. GovoniR. BrusaM.G. D’AngeloS. GandossiniR. Del BoF. FortunatoD. RonchiS. CortiN. BresolinG.P. Comi + Article (author) -
Revised genetic classification of limb girdle muscular dystrophies 2014 F. MagriA. GovoniG.P. Comi + Article (author) -
The Italian limb girdle muscular dystrophy registry : relative frequency, clinical features, and differential diagnosis 2017 F. MagriM.G. D'AngeloS. CortiA. GovoniR. BrusaR. Del BoD. RonchiN. BresolinG.P. Comi + Article (author) -
Time Is Motor Neuron: Therapeutic Window and Its Correlation with Pathogenetic Mechanisms in Spinal Muscular Atrophy 2018 Govoni, AlessandraGAGLIARDI, DELIAComi, G. P.Corti, Stefania Article (author) -
A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature 2018 Brusa, RobertaMagri, FrancescaPapadimitriou, DimitraGovoni, AlessandraDel Bo, RobertoCinnante, ClaudiaCorti, StefaniaBresolin, NereoComi, Giacomo Pietro + Article (author) -
Bilateral Cavernous Carotid Aneurysms: Atypical Presentation of a Rare Cause of Mass Effect. A Case Report and a Review of the Literature 2018 Gagliardi, DeliaFaravelli, IreneVilla, LuisaCinnante, ClaudiaBrusa, RobertaMauri, EleonoraTresoldi, LauraMagri, FrancescaGovoni, AlessandraBresolin, NereoComi, Giacomo PCorti, Stefania + Article (author) -
Stormorken syndrome caused by a p.R304W STIM1 mutation: The first Italian patient and a review of the literature 2018 Govoni, AlessandraMagri, FrancescaArtoni, AndreaCinnante, Claudia M.Bresolin, NereoComi, Giacomo P.Corti, Stefania + Article (author) -
Central nervous system involvement in common variable immunodeficiency: A case of acute unilateral optic neuritis in a 26 -year-old Italian Patient 2018 ABATI, ELENAFaravelli, IreneMagri, FrancescaGovoni, AlessandraGagliardi, DeliaMauri, EleonoraBrusa, RobertaBresolin, NereoFabio, GiovannaComi, Giacomo PietroCARRABBA, MARIA DOMENICA ROSARIACorti, Stefania + Article (author) -
MRI patterns of muscle involvement in type 2 and 3 spinal muscular atrophy patients 2019 Sansone, ValeriaSconfienza, Luca MariaMaggi, LorenzoGovoni, AlessandraComi, Giacomo + Article (author) -
Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature 2019 Gagliardi, DeliaMauri, EleonoraMagri, FrancescaMeneri, MegiAbati, ElenaBrusa, RobertaFaravelli, IreneRonchi, DarioTriulzi, FabioPeverelli, LorenzoBresolin, NereoComi, Giacomo PietroCorti, StefaniaGovoni, Alessandra + Article (author) -
Nusinersen treatment and cerebrospinal fluid neurofilaments : An explorative study on Spinal Muscular Atrophy type 3 patients 2020 Faravelli I.Meneri M.Abati E.Gagliardi D.Parente V.Ronchi D.Stocchetti N.Calderini E.Bresolin N.Comi G. P.Corti S.Magri F.Govoni A. + Article (author) -
Current understanding of and emerging treatment options for spinal muscular atrophy with respiratory distress type 1 (SMARD1) 2020 N. GalliM. NizzardoA. GovoniM. TaianaN. BresolinG. P. ComiS. Corti + Article (author) -
Spinal muscular atrophy with respiratory distress type 1: Clinical phenotypes, molecular pathogenesis and therapeutic insights 2020 Saladini, MatteoNizzardo, MonicaGovoni, AlessandraTaiana, MichelaBresolin, NereoComi, Giacomo PCorti, Stefania Article (author) -
Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis 2020 Magri F.Brusa R.Bello L.Peverelli L.Govoni A.Cinnante C.Colombo I.Fortunato F.Corti S.Bresolin N.Comi G. P. + Article (author) -
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase 2020 Mauri E.Abati E.D'Angelo M. G.Lucchini M.Bello L.Benedetti L.Scarlato M.Bertini E.Politano L.Scutifero M.Fossati B.Sansone V.Gagliardi D.Costamagna G.Govoni A.Magri F.Brusa R.Meneri M.Corti S.Bresolin N.Nigro V.Antonini G.Comi G. P. + Article (author) -
Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3 2020 Maggi, LorenzoGovoni, AlessandraMeneri, MegiTramacere, IreneComi, Giacomo + Article (author) -
Diagnostic and prognostic value of CSF neurofilaments in a cohort of patients with motor neuron disease: A cross-sectional study 2021 Gagliardi, DeliaFaravelli, IreneMeneri, MegiGovoni, AlessandraMagri, FrancescaPietro Comi, GiacomoCorti, Stefania + Article (author) -
Early Findings in Neonatal Cases of RYR1-Related Congenital Myopathies 2021 Mauri, EleonoraGovoni, AlessandraBrusa, RobertaPagliarani, SerenaRipolone, MichelaCinnante, ClaudiaBresolin, NereoCorti, StefaniaComi, Giacomo PMagri, Francesca + Article (author) -
Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired 2022 Taiana, MichelaGovoni, AlessandraSalani, SabrinaGalli, NoemiSaladini, MatteoBersani, MargheritaDel Bo, RobertoSansone, ValeriaBresolin, NereoComi, GiacomoCorti, StefaniaNizzardo, Monica + Article (author) -
Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease 2022 Maggi, LorenzoGovoni, AlessandraMeneri, MegiRicci, GiuliaCorti, StefaniaComi, Giacomo + Article (author) -
Mostrati risultati da 21 a 40 di 42
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