PEGORARO, ELENA

PEGORARO, ELENA  

Dipartimento di Neuroscienze - DNS  

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Risultati 1 - 20 di 474 (tempo di esecuzione: 0.055 secondi).
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
Deep characterization of females with heterozygous Duchenne muscular dystrophy mutations 2025 Riguzzi, PietroSabbatini, DanieleFusto, AuroraVianello, SaraMerlo, BeatriceCapece, GiulianaGorgoglione, DomenicoSorarù, GianniBariani, RiccardoBauce, BarbaraMartini, MarikaBello, LucaPegoraro, Elena + JOURNAL OF NEUROLOGY - -
MEPs and MRI Motor Band Sign as Potential Complementary Markers of Upper Motor Neuron Involvement in Amyotrophic Lateral Sclerosis 2025 Bello L.Anglani M.Cecchin D.Sabbatini D.Ruggero S.Falda M.Pegoraro E.Sorarù G. + EUROPEAN JOURNAL OF NEUROLOGY - -
Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey 2025 Bello L.Pegoraro E. + EUROPEAN JOURNAL OF PEDIATRICS - -
Assessing Pharmacogenomic loci Associated with the Pharmacokinetics of Vamorolone in Boys with Duchenne Muscular Dystrophy 2024 Sabbatini, DanielePegoraro, ElenaBello, Luca + THE JOURNAL OF CLINICAL PHARMACOLOGY - -
Blood biomarkers for Alzheimer’s disease with the Lumipulse automated platform: Age-effect and clinical value interpretation 2024 Musso, GiuliaPuthenparampil, MarcoCosma, ChiaraCagnin, AnnachiaraGallo, PaoloSorarù, GianniPegoraro, ElenaAntonini, AngeloZambon, Carlo FedericoCorbetta, MaurizioBasso, Daniela + CLINICA CHIMICA ACTA - -
Gain and loss of upper limb abilities in Duchenne muscular dystrophy patients: A 24-month study 2024 Pegoraro, ElenaBello, Luca + NEUROMUSCULAR DISORDERS - -
Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity 2024 Gorgoglione, DomenicoSabbatini, DanieleRiguzzi, PietroCapece, GiulianaVianello, SaraBello, LucaPegoraro, Elena + BRAIN - -
Nerve ultrasound in CANVAS‐spectrum disease: Reduced nerve size distinguishes genetically confirmed CANVAS from other axonal polyneuropathies 2024 Salvalaggio, AlessandroCoraci, DanielePegoraro, ElenaBello, LucaBriani, Chiara + JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM - -
Neurofilament light chain and profilin-1 dynamics in 30 spinalmuscular atrophy type 3 patients treated with nusinersen 2024 G. MussoL. BelloD. SabbatiniC. CosmaG. SorarùE. Pegoraro + EUROPEAN JOURNAL OF NEUROLOGY - -
Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy 2024 Angelini, CorradoPegoraro, Elena + BMC MUSCULOSKELETAL DISORDERS - -
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease 2024 Pegoraro, ElenaSalvalaggio, AlessandroBriani, Chiara + BRAIN - -
Six-minute walk test as outcome measure of fatigability in adults with spinal muscular atrophy treated with nusinersen 2024 Bello L.Capece G.Soraru G.Silvestrini M.Pegoraro E. + MUSCLE & NERVE - -
The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy 2024 Bello, LucaSabbatini, DanieleGorgoglione, DomenicoRiguzzi, PietroVianello, SaraPegoraro, Elena + JOURNAL OF NEUROMUSCULAR DISEASES - -
254th ENMC international workshop. Formation of a European network to initiate a European data collection, along with development and sharing of treatment guidelines for adult SMA patients. Virtual meeting 28 - 30 January 2022 2023 Pegoraro, Elena + NEUROMUSCULAR DISORDERS - -
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis 2023 Pegoraro, Elena + JOURNAL OF NEUROLOGY - -
Analytical evaluation of a GAD65 antibodies chemiluminescence immunoassay for CSF in neurological syndromes 2023 Musso, GiuliaPadoan, AndreaPegoraro, ElenaBasso, Daniela + CLINICAL CHEMISTRY AND LABORATORY MEDICINE - -
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable? 2023 Pegoraro, Elena + ANNALS OF NEUROLOGY - -
Defective excitation-contraction coupling and mitochondrial respiration precede mitochondrial Ca2+ accumulation in spinobulbar muscular atrophy skeletal muscle 2023 Caterina MarchiorettiMarco PirazziniGaia GherardiLeonardo NogaraRoberta AndreottiPaolo MartiniLorenzo MarcucciMarta CanatoEmanuela ZuccaroCristina MammucariMarco PacificiAnna RaffaelloRosario RizzutoAndrea MattareiMarian A DesbatsLeonardo SalviatiAram MegighianGianni SorarùElena PegoraroElisa BelluzziAssunta PozzuoliCarlo BizPietro RuggieriChiara RomualdiMarco SandriBert BlaauwMaria Pennuto + NATURE COMMUNICATIONS - -
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience 2023 Pegoraro, Elena + ORPHANET JOURNAL OF RARE DISEASES - -
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD) 2023 Pegoraro, Elena + CURRENT ISSUES IN MOLECULAR BIOLOGY - -