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Mostrati risultati da 1 a 20 di 53
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
Lack of COL6/collagen VI causes megakaryocyte dysfunction by impairing autophagy and inducing apoptosis 2022 Chrisam, MartinaMetti, SamueleSemplicini, ClaudioBello, LucaPegoraro, ElenaBraghetta, PaolaBonaldo, Paolo + AUTOPHAGY - -
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 - -
Assessment of disease progression in dysferlinopathy: A 1-year cohort study 2019 Bello L.Semplicini C.Pegoraro E. + NEUROLOGY - -
Muscle MRI in patients with dysferlinopathy: Pattern recognition and implications for clinical trials 2018 Stramare, RobertoBello, LucaSemplicini, ClaudioPegoraro, Elena + JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY - -
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study 2018 Semplicini C + JOURNAL OF INHERITED METABOLIC DISEASE - -
The clinical spectrum of CASQ1-related myopathy 2018 Semplicini CBertolin CBello LPantic BVianello SCATAPANO, FRANCESCOGavassini BFPREVITERO, MARCOCalore CSorarù GMinervini GTosatto SCEStramare RPegoraro E. + NEUROLOGY - -
The role of electrodiagnosis with long exercise test in McArdle disease 2018 Semplicini, ClaudioEymard, Bruno + MUSCLE & NERVE - -
Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study 2018 Bello, LucaSemplicini, ClaudioPegoraro, Elena + JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY - -
233rd ENMC International Workshop:: Clinical Trial Readiness for Calpainopathies, Naarden, The Netherlands, 15–17 September 2017 2018 EYMARD, BRUNO, MICHEL, ANTOINE, JOSEPH, MARIESemplicini C + NEUROMUSCULAR DISORDERS - -
MRI in sarcoglycanopathies: a large international cohort study 2018 SEMPLICINI, CLAUDIOPEGORARO, ELENA + JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY - -
Investigating myopathic causes of rhabdomyolysis 2017 Semplicini, Claudio - - -
SPP1 genotype and glucocorticoid treatment modify osteopontin expression in Duchenne muscular dystrophy cells 2017 VIANELLO, SARAPANTIC, BORISFUSTO, AURORABELLO, LUCAGALLETTA, EVABORGIA, DORIANAGAVASSINI, BRUNO FRANCESCOSEMPLICINI, CLAUDIOSORARU', GIANNIVITIELLO, LIBEROPEGORARO, ELENA HUMAN MOLECULAR GENETICS - -
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis 2017 Angelini, CorradoSEMPLICINI, CLAUDIOPEGORARO, ELENA + MUSCLE & NERVE - -
1st International Workshop on Clinical trial readiness for sarcoglycanopathies 15-16 November 2016, Evry, France 2017 PEGORARO, ELENAGORECKI, DARIUSZ , CEZARYSANDONA', DORIANNASEMPLICINI, CLAUDIO + NEUROMUSCULAR DISORDERS - -
Integrated care of muscular dystrophies in Italy. Part 1. Pharmacological treatment and rehabilitative interventions 2017 Gaiani, AlessandraSemplicini, ClaudioBello, LucaAngelini, Corrado + ACTA MYOLOGICA - -
Muscle MRI and functional outcome measures in Becker muscular dystrophy 2017 Barp, AndreaBello, LucaCAUMO, LUCACampadello, PaolaSemplicini, ClaudioLAZZAROTTO, ANNALISASorarù, GianniCalore, ChiaraRAMPADO, ALESSANDROMotta, RaffaellaStramare, RobertoPegoraro, Elena SCIENTIFIC REPORTS - -
Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease 2017 SEMPLICINI, CLAUDIO + MOLECULAR GENETICS AND METABOLISM - -
High intra-familiar clinical variability in MORC2 mutated CMT2 patients 2017 SEMPLICINI, CLAUDIO + BRAIN - -
Integrated care of muscular dystrophies in Italy. Part 2. Psychological treatments, social and welfare support, and financial costs 2017 Gaiani, AlessandraSemplicini, ClaudioBello, LucaAngelini, Corrado + ACTA MYOLOGICA - -
Non-neural phenotype of spinal and bulbar muscular atrophy: Results from a large cohort of Italian patients 2016 QUERIN, GIORGIABERTOLIN, CINZIAVOLPE, MARCOPEGORARO, ELENAFORESTA, CARLOSILVANO, MARIACORRADO, DOMENICOIAFRATE, MASSIMOANGELINI, LORENZOSARTORI, LEONARDOGAIANI, ALESSANDRABELLO, LUCASEMPLICINI, CLAUDIOERMANI, MARIOFERLIN, ALBERTOSORARU', GIANNIPALMIERI, ARIANNABRIANI, CHIARAPENNUTO, MARIA + JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY - -
Mostrati risultati da 1 a 20 di 53
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