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Mostrati risultati da 1 a 20 di 134
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
Troponin T in spinal and bulbar muscular atrophy (SBMA) 2023 Musso, GiuliaSabbatini, DanieleBello, LucaPegoraro, ElenaBasso, DanielaSorarù, Gianni + JOURNAL OF THE NEUROLOGICAL SCIENCES - -
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 - -
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 - -
Muscle magnetic resonance characterization of STIM1 tubular aggregate myopathy using unsupervised learning 2023 Lupi, AmaliaBello, LucaStramare, RobertoPegoraro, Elena + PLOS ONE - -
Italian version of the Rasch-Built Overall Amyotrophic Lateral Sclerosis Disability Scale (ROADS): validation and longitudinal performance 2023 Sabbatini, DanieleBello, LucaPegoraro, ElenaSorarù, Gianni + JOURNAL OF NEUROLOGY - -
RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing 2022 Bello, LucaBicciato, Silvio + HGG ADVANCES - -
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 - -
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 - -
Characterization of the dystrophin-associated protein complex by mass spectrometry 2022 Bello, LucaPegoraro, Elena + MASS SPECTROMETRY REVIEWS - -
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy 2022 Bello, LucaBertolin, CinziaPegoraro, ElenaSalviati, Leonardo + NATURE COMMUNICATIONS - -
The relevance of migraine in the clinical spectrum of mitochondrial disorders 2022 Bello L.Soraru G.Zeviani M.Pegoraro E. + SCIENTIFIC REPORTS - -
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 - -
Genetic modifiers of upper limb function in Duchenne muscular dystrophy 2022 Sabbatini, DanieleVianello, SaraVilla, MatteoBello, LucaPegoraro, Elena + JOURNAL OF NEUROLOGY - -
Therapeutic opportunities and clinical outcome measures in Duchenne muscular dystrophy 2022 Bello, LucaPegoraro, Elena + NEUROLOGICAL SCIENCES - -
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 - -
Lack of COL6/collagen VI causes megakaryocyte dysfunction by impairing autophagy and inducing apoptosis 2022 Chrisam, MartinaMetti, SamueleSemplicini, ClaudioBello, LucaPegoraro, ElenaBraghetta, PaolaBonaldo, Paolo + AUTOPHAGY - -
Mostrati risultati da 1 a 20 di 134
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