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Mostrati risultati da 21 a 40 di 105
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes 2009 FANIN, MARINATASCA, ELISABETTAPEGORARO, ELENAANGELINI, CORRADO + NEUROLOGY - -
INHIBITION OF PROTEASOME ACTIVITY PROMOTES THE CORRECT LOCALIZATION OF DESEASE-CAUSING ALPHA-SARCOGLYCAN MUTANTS IN A HETEROLOGOUS CELL SYSTEM EXPRESSING BETA-, GAMMA-, AND DELTA-SARCOGLYCAN 2008 SANDONA', DORIANNAFANIN, MARINAANGELINI, CORRADO + - - MYOLOGY
Inhibition of proteasome activity promotes the correct localization of disease-causing alpha-sarcoglycan mutants in HEK-293 cells constitutively expressing beta-, gamma-, and delta-sarcoglycan 2008 FANIN, MARINAANGELINI, CORRADOSANDONA', DORIANNA + THE AMERICAN JOURNAL OF PATHOLOGY - -
Cardioembolic stroke in Danon disease. 2008 SPINAZZI, MARCOFANIN, MARINAMELACINI, PAOLANASCIMBENI, ANNA CHIARAANGELINI, CORRADO CLINICAL GENETICS - -
Sphingomonas paucimobilis associated with localised calf myositis 2008 PEGORARO, ELENABORSATO, CARLODAL BELLO, FEDERICOSTRAMARE, ROBERTOFANIN, MARINAPALU', GIORGIOANGELINI, CORRADO JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY - -
Biochemical and ultrastructural evidence of endoplasmic reticulum stress in LGMD2I 2007 FANIN, MARINAANGELINI, CORRADOPEGORARO, ELENA + VIRCHOWS ARCHIV - -
Multisystemic LAMP-2 defect in Danon disease. 2007 FANIN, MARINANASCIMBENI, ANNA CHIARATASCA, ELISABETTANARDETTO, LUCIASPINAZZI, MARCOMELACINI, PAOLAANGELINI, CORRADO BASIC AND APPLIED MYOLOGY - -
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 - -
Multisystem primary defect of LAMP-2 in Danon disease 2006 MELACINI, PAOLAFANIN, MARINASPINAZZI, MARCOPESCATORE, VALENTINAILICETO, SABINOANGELINI, CORRADO + EUROPEAN HEART JOURNAL - European Heart Journal
Ultrastructural and histopathological studies in limb girdle 2I. 2006 FANIN, MARINAANGELINI, CORRADOPEGORARO, ELENA + NEUROMUSCULAR DISORDERS - -
Does sport affect LGMD2B progression? 2006 FANIN, MARINAPEGORARO, ELENAANGELINI, CORRADO + NEUROLOGICAL SCIENCES - -
MRI study of limb girdle muscular dystrophies and inflammatory myopathies. 2006 STRAMARE, ROBERTOFANIN, MARINAPEGORARO, ELENAANGELINI, CORRADO + BASIC AND APPLIED MYOLOGY - -
Immunohistochemical analyses in human muscular dystrophies. 2006 PEGORARO, ELENAFANIN, MARINAANGELINI, CORRADO + EUROPEAN JOURNAL OF HISTOCHEMISTRY - -
Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism 2005 FANIN, MARINAANGELINI, CORRADO + JOURNAL OF CLINICAL PATHOLOGY - -
Decreased expression of DMPK: correlation with CTG repeat expansion and fibre type composition in myotonic dystrophy type 1 2005 SALVATORI, SERGIOFANIN, MARINATREVISAN, CARLO PIETROANGELINI, CORRADO + NEUROLOGICAL SCIENCES - -
Peculiar association of a vacuolar myopathy with multiple sclerosis. 2005 FANIN, MARINAARGENTIERO, VINCENZAPEGORARO, ELENAANGELINI, CORRADO + NEUROLOGICAL SCIENCES - -
Cuore e malattie neuromuscolari 2005 MELACINI, PAOLAFANIN, MARINADALLA VOLTA, SERGIO - - Malattie del cuore e dei vasi
The yield of molecular diagnosis is higher in severe (SCARMD, LGMD) than in milder (myopathy, high CK) phenotypes 2005 ANGELINI, CORRADOFANIN, MARINAPEGORARO, ELENA + NEUROMUSCULAR DISORDERS - -
The frequency of limb girdle muscular dystrophy 2A in northeastern Italy 2005 FANIN, MARINANASCIMBENI, ANNA CHIARAFULIZIO, LUIGIANGELINI, CORRADO NEUROMUSCULAR DISORDERS - -
Molecular diagnosis in LGMD2A: Mutation analysis or protein testing? 2004 FANIN, MARINAFULIZIO, LUIGITREVISAN, CARLO PIETROANGELINI, CORRADO + HUMAN MUTATION - -
Mostrati risultati da 21 a 40 di 105
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