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Mostrati risultati da 21 a 40 di 452
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI pattern 2023 Pegoraro, Elena + JOURNAL OF NEUROMUSCULAR DISEASES - -
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies 2023 Pegoraro, Elena + GENES - -
Collagen VI deficiency causes behavioral abnormalities and cortical dopaminergic dysfunction 2022 Gregorio, IlariaBello, LucaBurgio, FrancescaRusso, LorisSut, StefaniaDall'Acqua, StefanoBraghetta, PaolaSemenza, CarloPegoraro, ElenaPapaleo, FrancescoBonaldo, PaoloCescon, Matilde + DISEASE MODELS & MECHANISMS - -
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing 2022 Pegoraro, Elena + INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES - -
Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach 2022 Bello L.Pegoraro E. + FRONTIERS IN NEUROLOGY - -
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network 2022 Pegoraro, ElenaVazza, Giovanni + NEUROLOGY. GENETICS - -
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy 2022 Bello, LucaBertolin, CinziaPegoraro, ElenaSalviati, Leonardo + NATURE COMMUNICATIONS - -
Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study 2022 Pegoraro, Elena + MUSCLE & NERVE - -
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy 2022 Bello, LucaPegoraro, Elena + PLOS ONE - -
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study 2022 Fusto A.Sabbatini D.Bello L.Minervini G.Tosatto S.Pegoraro E. + ACTA NEUROPATHOLOGICA COMMUNICATIONS - -
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study 2022 Pegoraro, Elena + JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY - -
Therapeutic opportunities and clinical outcome measures in Duchenne muscular dystrophy 2022 Bello, LucaPegoraro, Elena + NEUROLOGICAL SCIENCES - -
Characterization of the dystrophin-associated protein complex by mass spectrometry 2022 Bello, LucaPegoraro, Elena + MASS SPECTROMETRY REVIEWS - -
Genetic modifiers of upper limb function in Duchenne muscular dystrophy 2022 Sabbatini, DanieleVianello, SaraVilla, MatteoBello, LucaPegoraro, Elena + JOURNAL OF NEUROLOGY - -
Emergencies cards for neuromuscular disorders 1st Consensus Meeting from UILDM - Italian Muscular Dystrophy Association Workshop report 2022 Navalesi P.Pegoraro E.Vianello A. + ACTA MYOLOGICA - -
Lack of COL6/collagen VI causes megakaryocyte dysfunction by impairing autophagy and inducing apoptosis 2022 Chrisam, MartinaMetti, SamueleSemplicini, ClaudioBello, LucaPegoraro, ElenaBraghetta, PaolaBonaldo, Paolo + AUTOPHAGY - -
Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease 2022 Bello, LucaSorarù, GianniPegoraro, Elena + JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY - -
The relevance of migraine in the clinical spectrum of mitochondrial disorders 2022 Bello L.Soraru G.Zeviani M.Pegoraro E. + SCIENTIFIC REPORTS - -
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial 2022 Pegoraro, ElenaBello, Luca + JAMA - -
Quality of life assessment in adult spinal muscular atrophy patients treated with nusinersen 2022 Bello L.Bozzoni V.Caumo L.Soraru G.Pegoraro E. + JOURNAL OF NEUROLOGY - -
Mostrati risultati da 21 a 40 di 452
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