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Mostrati risultati da 21 a 40 di 136
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy 2022 Bello, LucaBertolin, CinziaPegoraro, ElenaSalviati, Leonardo + NATURE COMMUNICATIONS - -
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy 2022 Bello, LucaPegoraro, Elena + PLOS ONE - -
The relevance of migraine in the clinical spectrum of mitochondrial disorders 2022 Bello L.Soraru G.Zeviani M.Pegoraro E. + SCIENTIFIC REPORTS - -
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 - -
Lack of COL6/collagen VI causes megakaryocyte dysfunction by impairing autophagy and inducing apoptosis 2022 Chrisam, MartinaMetti, SamueleSemplicini, ClaudioBello, LucaPegoraro, ElenaBraghetta, PaolaBonaldo, Paolo + AUTOPHAGY - -
The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy 2021 Bello L.Pegoraro E. + NEUROMUSCULAR DISORDERS - -
Non-Invasive Ventilation for Acute Respiratory Failure in Duchenne Muscular Dystrophy Patients 2021 Vianello A.Guarnieri G.Sukthi A.Molena B.Turato C.Lugato F.Turrin M.Bello L.Navalesi P. + ARCHIVOS DE BRONCONEUMOLOGÍA - -
Non-Invasive Ventilation for Acute Respiratory Failure in Duchenne Muscular Dystrophy Patients 2021 Vianello, AndreaMolena, BeatriceBello, LucaNavalesi, Paolo + ARCHIVOS DE BRONCONEUMOLOGÍA - -
Whole-body muscle MRI in McArdle disease 2021 Barp A.Bello L. + NEUROMUSCULAR DISORDERS - -
PROCEEDINGS OF THE XXI CONGRESS OF THE ITALIAN ASSOCIATION OF MYOLOGY: Digital EditionDecember 01-04, 2021 Neurofilament light chain and Profilin-1 in adult SMA patients under nusinersen treatment: 26-months follow-up 2021 Giulia MussoVirginia BozzoniLuca CaumoLuca BelloChiara CosmaGianni SorarùMario PlebaniElena Pegoraro ACTA MYOLOGICA - Neurofilament light chain and Profilin-1 in adult SMA patients under nusinersen treatment: 26-months follow-up
North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up 2021 Bello, LucaPegoraro, Elena + PLOS ONE - -
Longitudinal motor function in proximal versus distal DMD pathogenic variants 2021 Bello L. + MUSCLE & NERVE - -
Evaluation of peripherin in biofluids of patients with motor neuron diseases 2021 Sabbatini, DanieleRuggero, SusannaCagnin, AnnachiaraBriani, ChiaraToffanin, ElisabettaFortuna, AndreaBello, LucaPegoraro, ElenaMusso, GiuliaSorarù, Gianni + ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY - -
Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases 2021 Bello, LucaPegoraro, Elena + JOURNAL OF CLINICAL MEDICINE - -
Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale 2021 Bello L.Pegoraro E. + ANNALS OF NEUROLOGY - -
Health related quality of life in young, steroid-naïve boys with Duchenne muscular dystrophy 2021 Pegoraro E.Bello L. + NEUROMUSCULAR DISORDERS - -
Striated muscle activator of Rho signalling (STARS) overexpression in the mdx mouse enhances muscle functional capacity and regulates the actin cytoskeleton and oxidative phosphorylation pathways 2021 Bello L.Pegoraro E. + EXPERIMENTAL PHYSIOLOGY - -
Ablation of collagen VI leads to the release of platelets with altered function 2021 Chrisam M.Semplicini C.Petronilli V.Bello L.Pegoraro E.Bernardi P.Braghetta P.Bonaldo P. + BLOOD ADVANCES - -
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy 2020 Bello L.Pegoraro E.Zangaro V. + BRAIN - -
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study 2020 Pegoraro E.Bello L. + FRONTIERS IN GENETICS - -
Mostrati risultati da 21 a 40 di 136
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