Sfoglia per Autore  

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Mostrati risultati da 1 a 20 di 451
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease 2024 Pegoraro, ElenaSalvalaggio, AlessandroBriani, Chiara + BRAIN - -
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD) 2023 Pegoraro, Elena + CURRENT ISSUES IN MOLECULAR BIOLOGY - -
Troponin T in spinal and bulbar muscular atrophy (SBMA) 2023 Musso, GiuliaSabbatini, DanieleBello, LucaPegoraro, ElenaBasso, DanielaSorarù, Gianni + JOURNAL OF THE NEUROLOGICAL SCIENCES - -
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 - -
Is it time for genetic modifiers to predict prognosis in Duchenne muscular dystrophy? 2023 Bello, LucaPegoraro, Elena + NATURE REVIEWS. NEUROLOGY - -
Respiratory function in a large cohort of treatment-naïve adult spinal muscular atrophy patients: a cross-sectional study 2023 Bello, LucaCapece, GiulianaPegoraro, Elena + NEUROMUSCULAR DISORDERS - -
The value of serum creatinine as biomarker of disease progression in spinal and bulbar muscular atrophy (SBMA) 2023 Sabbatini, DanieleVianello, SaraPennuto, MariaPegoraro, ElenaBello, LucaSorarù, Gianni + SCIENTIFIC REPORTS - -
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 - -
Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study 2023 Pegoraro, ElenaBello, Luca + CHILDREN - -
Longitudinal Analysis of PUL 2.0 Domains in Ambulant and Non-Ambulant Duchenne Muscular Dystrophy Patients: How do they Change in Relation to Functional Ability? 2023 Pegoraro, ElenaBello, Luca + JOURNAL OF NEUROMUSCULAR DISEASES - -
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 - -
Subjective Sleep Quality as it Relates to Cognitive and Physical Function in Spinal Muscular Atrophy Patients 2023 Wennberg, AlexandraGianni SorarùPegoraro, Elena + JOURNAL OF NEUROMUSCULAR DISEASES - -
Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI pattern 2023 Pegoraro, Elena + JOURNAL OF NEUROMUSCULAR DISEASES - -
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey 2023 Pegoraro, Elena + NEUROLOGY - -
Muscle magnetic resonance characterization of STIM1 tubular aggregate myopathy using unsupervised learning 2023 Lupi, AmaliaBello, LucaStramare, RobertoPegoraro, Elena + PLOS ONE - -
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 - -
Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy 2023 Pegoraro, Elena + NEUROMUSCULAR DISORDERS - -
Analytical evaluation of a GAD65 antibodies chemiluminescence immunoassay for CSF in neurological syndromes 2023 Musso, GiuliaPadoan, AndreaPegoraro, ElenaBasso, Daniela + CLINICAL CHEMISTRY AND LABORATORY MEDICINE - -
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies 2023 Pegoraro, Elena + GENES - -
Mostrati risultati da 1 a 20 di 451
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