Sfoglia per Autore  

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Mostrati risultati da 1 a 20 di 105
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
The role of transmission electron microscopy in vacuole-associated myopathies 2017 PEGORARO, ELENAFANIN, MARINA + ULTRASTRUCTURAL PATHOLOGY - -
Autophagy dysregulation in Danon disease 2017 NASCIMBENI, ANNA CHIARAFANIN, MARINAANGELINI, CORRADOSANDRI, MARCO CELL DEATH & DISEASE - -
The genetic basis of undiagnosed muscular dystrophies and myopathies 2016 FANIN, MARINAPEGORARO, ELENAAngelini, Corrado + NEUROLOGY - -
Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript 2016 FANIN, MARINABELLO, LUCAPEGORARO, ELENA + NEUROMUSCULAR DISORDERS - -
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 2016 FANIN, MARINABELLO, LUCAPEGORARO, ELENA + ORPHANET JOURNAL OF RARE DISEASES - -
Functional changes in Becker muscular dystrophy: Implications for clinical trials in dystrophinopathies 2016 BELLO, LUCABARP, ANDREAFANIN, MARINASEMPLICINI, CLAUDIOSORARU', GIANNIAngelini, CorradoPEGORARO, ELENA + SCIENTIFIC REPORTS - -
Unveiling the degradative route of the V247M α-sarcoglycan mutant responsible for LGMD-2D. 2014 BIANCHINI, ELISAFANIN, MARINASANDONA', DORIANNA + HUMAN MOLECULAR GENETICS - -
Muscle atrophy in Limb Girdle Muscular Dystrophy 2A: A morphometric and molecular study 2013 Fanin M.Nascimbeni A. C.Angelini C. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY - -
Muscle atrophy in Limb Girdle Muscular Dystrophy 2A: A morphometric and molecular study 2013 Fanin M.Angelini C. + NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY - -
TGFB2R but not SPP1 genotype modulates osteopontin expression in Duchenne muscular dystrophy muscle. 2012 BELLO, LUCAFANIN, MARINASORARU', GIANNIERMANI, MARIOAngelini CPEGORARO, ELENA + JOURNAL OF PATHOLOGY - -
Study of Muscle Autophagy and Atrophy Markers in Different Phenotypes of Pompe Disease 2011 NASCIMBENI, ANNA CHIARAFANIN, MARINASEMPLICINI, CLAUDIOTASCA, ELISABETTASANDRI, MARCOANGELINI, CORRADO + CLINICAL THERAPEUTICS - -
Limb-girdle muscular dystrophy type 1: anticipation or epigenetic modifications? 2011 ANGELINI, CORRADOFANIN, MARINA + JOURNAL OF NEUROLOGY - -
Comparison of muscle ultrastructure in myasthenia gravis with anti-MuSK and anti-AChR antibodies 2011 FANIN, MARINAPEGORARO, ELENAC. ANGELINI + JOURNAL OF NEUROLOGY - -
Missplicing of Troponin T transcripts in Myotonic dystrophy type 2 human biopsies 2010 SALVATORI, SERGIOPICARD, ANNE ALEIDAFANIN, MARINATREVISAN, CARLO PIETROANGELINI, CORRADO + BASIC AND APPLIED MYOLOGY - -
The role of ultrastructural examination in storage diseases 2010 FANIN, MARINAPEGORARO, ELENAANGELINI, CORRADO + ULTRASTRUCTURAL PATHOLOGY - -
Progress in enzyme replacement therapy in glycogen storage disease type II 2009 ANGELINI, CORRADOSEMPLICINI, CLAUDIOPEGORARO, ELENASORARU', GIANNIFANIN, MARINA + THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS - -
Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy 2009 FANIN, MARINALAVEDER, PAOLOMOSTACCIUOLO, MARIA LUISAANGELINI, CORRADOLANFRANCHI, GEROLAMO + BMC MEDICINE - -
Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes 2009 FANIN, MARINATASCA, ELISABETTAPEGORARO, ELENAANGELINI, CORRADO + NEUROLOGY - -
Comparative transcriptional and biochemical studies in muscle of myotonic dystrophies (DM1 and DM2) 2009 SALVATORI, SERGIOFANIN, MARINAPICARD, ANNE ALEIDAPASTORELLO, EBEROMEO, VINCENZOTREVISAN, CARLO PIETROANGELINI, CORRADO + NEUROLOGICAL SCIENCES - -
Study of atrophy factors in 7 patients with myotonic dystrophy type 2 2009 FANIN, MARINAPEGORARO, ELENATREVISAN, CARLO PIETROANGELINI, CORRADO + - - Journal of Neurology
Mostrati risultati da 1 a 20 di 105
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