Sfoglia per Autore

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Mostrati risultati da 1 a 20 di 21
Titolo Data di pubblicazione Autore(i) Rivista Serie Titolo libro
Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD). 2018 Nascimbeni AAngelini CSandri M + NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY - -
Autophagy dysregulation in Danon disease 2017 NASCIMBENI, ANNA CHIARAFANIN, MARINAANGELINI, CORRADOSANDRI, MARCO CELL DEATH & DISEASE - -
Dominant muscular dystrophy with a novel SYNE1 gene mutation 2015 Nascimbeni A. C.Trevisan C. P.Angelini C. + MUSCLE & NERVE - -
Muscle atrophy, ubiquitin-proteasome, and autophagic pathways in dysferlinopathy 2014 Nascimbeni A. C.Angelini C. + MUSCLE & NERVE - -
Muscle fatigue, nNOS and muscle fiber atrophy in limb girdle muscular dystrophy 2014 Angelini CNascimbeni AC + ACTA MYOLOGICA - -
Muscle fatigue, nNOS and muscle fiber atrophy in limb girdle muscular dystrophy 2014 Angelini, C.Nascimbeni, A. C. + ACTA MYOLOGICA - -
Therapeutic advances in the management of Pompe disease and other metabolic myopathies 2013 ANGELINI, CORRADONASCIMBENI, ANNA CHIARASEMPLICINI, CLAUDIO THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS - -
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 - -
Study of Muscle Autophagy and Atrophy Markers in Different Phenotypes of Pompe Disease 2011 NASCIMBENI, ANNA CHIARAFANIN, MARINASEMPLICINI, CLAUDIOTASCA, ELISABETTASANDRI, MARCOANGELINI, CORRADO + CLINICAL THERAPEUTICS - -
Glycogenosys type II and Danon Disease: molecular study and muscle pathology 2009 Nascimbeni, Anna Chiara - - -
Cardioembolic stroke in Danon disease. 2008 SPINAZZI, MARCOFANIN, MARINAMELACINI, PAOLANASCIMBENI, ANNA CHIARAANGELINI, CORRADO CLINICAL GENETICS - -
Multisystemic LAMP-2 defect in Danon disease. 2007 FANIN, MARINANASCIMBENI, ANNA CHIARATASCA, ELISABETTANARDETTO, LUCIASPINAZZI, MARCOMELACINI, PAOLAANGELINI, CORRADO BASIC AND APPLIED MYOLOGY - -
Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations 2007 NASCIMBENI, ANNA CHIARAANGELINI, CORRADO + JOURNAL OF MEDICAL GENETICS - -
Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E. 2006 NASCIMBENI, ANNA CHIARAANGELINI, CORRADO + NEUROMUSCULAR DISORDERS - -
Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease 2006 FANIN, MARINANASCIMBENI, ANNA CHIARASPINAZZI, MARCOMELACINI, PAOLAANGELINI, CORRADO + THE AMERICAN JOURNAL OF PATHOLOGY - -
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes 2005 NASCIMBENI, ANNA CHIARAANGELINI, CORRADO + JOURNAL OF MEDICAL GENETICS - -
The frequency of limb girdle muscular dystrophy 2A in northeastern Italy 2005 FANIN, MARINANASCIMBENI, ANNA CHIARAFULIZIO, LUIGIANGELINI, CORRADO NEUROMUSCULAR DISORDERS - -
Adult acid maltase deficiency: an open trial with albuterol and branched- chain aminoacids 2004 ANGELINI, CORRADOPEGORARO, ELENAVERGANI, LODOVICANASCIMBENI, ANNA CHIARAFANIN, MARINA + BASIC AND APPLIED MYOLOGY - -
Morphological changes in late onset acid Maltase deficient patients with splicing gene mutation 2003 ANGELINI, CORRADONASCIMBENI, ANNA CHIARA + ACTA MYOLOGICA - -
Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression 2003 FANIN, MARINANASCIMBENI, ANNA CHIARAFULIZIO, LUIGITREVISAN, CARLO PIETROANGELINI, CORRADO + THE AMERICAN JOURNAL OF PATHOLOGY - -
Mostrati risultati da 1 a 20 di 21
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