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Mostrati risultati da 41 a 60 di 105
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
Miopatie congenite 2004 PEGORARO, ELENAFANIN, MARINAANGELINI, CORRADO - - Anestesia in pazienti con patologie neuromuscolari
Le distrofie muscolari dei cingoli (LGMD) 2004 PEGORARO, ELENAFANIN, MARINAANGELINI, CORRADO GIORNALE DI NEUROPSICHIATRIA DELL'ETÀ EVOLUTIVA - -
CTG repeat expansion and fiber type composition affect DMPK expression in myotonic dystrophy type 1. 2004 SALVATORI, SERGIOFANIN, MARINATREVISAN, CARLO PIETROANGELINI, CORRADO + JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY - -
Molecular diagnosis in LGMD2A: Mutation analysis or protein testing? 2004 FANIN, MARINAFULIZIO, LUIGITREVISAN, CARLO PIETROANGELINI, CORRADO + HUMAN MUTATION - -
Clinical heterogeneity in limb-girdle muscular dystrophy type 2I 2004 PEGORARO, ELENABOITO, CHIARAFANIN, MARINAANGELINI, CORRADO + NEUROLOGY - -
Genetic and clinical-pathological findings in limb girdle muscular dystrophy type 2I 2003 PEGORARO, ELENABOITO, CHIARAFANIN, MARINAANGELINI, CORRADO + - - -
FKRP mutation study in muscular dystrophy of unknown etiology 2003 BOITO, CHIARAFANIN, MARINAANGELINI, CORRADOPEGORARO, ELENA + - - -
Clinical and molecular study in LGMD2I 2003 FANIN, MARINAANGELINI, CORRADOPEGORARO, ELENA + EUROPEAN JOURNAL OF NEUROLOGY - -
Phenotype modulators in myophosphorylase deficiency 2003 SARTORI, ELENAFANIN, MARINANASCIMBENI, ANNA CHIARAANGELINI, CORRADO + ANNALS OF NEUROLOGY - -
Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency 2003 BOSCARO, MARCOFANIN, MARINATREVISAN, CARLO PIETROANGELINI, CORRADOPEGORARO, ELENA + HUMAN MUTATION - -
Laminin alpha2 negative congenital muscular dystrophy (MDC1A) presenting with a mild phenotype 2003 FANIN, MARINAANGELINI, CORRADOPEGORARO, ELENA + - - -
Novel sarcoglycan gene mutation in a large cohort of Italian patients 2003 FANIN, MARINAANGELINI, CORRADOPEGORARO, ELENA + JOURNAL OF MEDICAL GENETICS - -
Application of a cDNA microarray for the analysis of muscular dystrophies and childhood leukemias 2003 CAMPANARO, STEFANODE PITTA', CRISTIANOROMUALDI, CHIARABELLIN MCAGNIN, STEFANOTOMBOLAN, LUCIAFANIN, MARINAPEGORARO, ELENATE KRONNIE, GEERTRUDYVALLE, GIORGIOBASSO, GIUSEPPEANGELINI CLANFRANCHI, GEROLAMO + MINERVA BIOTECNOLOGICA - -
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 - -
LGMD2E patients risk developing dilated cardiomyopathy 2003 FANIN, MARINAMELACINI, PAOLABOITO, CHIARAPEGORARO, ELENAANGELINI, CORRADO NEUROMUSCULAR DISORDERS - -
Novel sarcoglycan mutations widen the clinical spectrum of limb girdle muscular dystrophy 2C, 2D, 2E, 2F 2002 ANGELINI, CORRADOBOITO, CHIARAFANIN, MARINAPEGORARO, ELENA + NEUROLOGY - -
Investigating the mechanism of chromosomal deletion: Characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene 2002 TOFFOLATTI, LUISACARDAZZO, BARBARADANIELI, GIAN ANTONIOANGELINI, CORRADOFANIN, MARINAPATARNELLO, TOMASO + GENOMICS - -
Gene expression profiling in dysferlinopathies using a dedicated muscle microarray 2002 CAMPANARO, STEFANOROMUALDI, CHIARAFANIN, MARINALAVEDER, PAOLODE PITTA', CRISTIANOPEGORARO, ELENAVALLE, GIORGIOANGELINI, CORRADOLANFRANCHI, GEROLAMO + HUMAN MOLECULAR GENETICS - -
Gene expression profiling in skeletal muscle using a dedicated microarray 2002 CAMPANARO, STEFANOROMUALDI, CHIARADE PITTA', CRISTIANOFANIN, MARINALAVEDER, PAOLOTOPPO, STEFANOCAGNIN, STEFANOVALLE, GIORGIOANGELINI C.LANFRANCHI, GEROLAMO + MINERVA BIOTECNOLOGICA - -
Beta-sarcoglycan gene mutations cause plasma membrane dysruption in striated and smooth muscle, leading to severe dilated cardiomyopathy 2002 MELACINI, PAOLAFANIN, MARINABOITO, CHIARAPEGORARO, ELENAANGELINI, CORRADOILICETO, SABINO EUROPEAN HEART JOURNAL - -
Mostrati risultati da 41 a 60 di 105
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