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Mostrati risultati da 21 a 34 di 34
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
Molecular diagnosis in LGMD2A: Mutation analysis or protein testing? 2004 FANIN, MARINAFULIZIO, LUIGITREVISAN, CARLO PIETROANGELINI, CORRADO + HUMAN MUTATION - -
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 - -
Prevalence of Inherited Ataxias in Province of Padua, Italy 2004 ZORTEA, MICHELAARMANI, MARIOPASTORELLO, EBEMOSTACCIUOLO, MARIA LUISATREVISAN, CARLO PIETRO + NEUROEPIDEMIOLOGY - -
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 - -
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 - -
Integrin α7β1 in muscular dystrophy/myopathy of unknown etiology 2002 Pegoraro E.Cepollaro F.Prandini P.Trevisan C. P.Angelini C. + THE AMERICAN JOURNAL OF PATHOLOGY - -
Integrin alpha 7 beta 1 in muscular dystrophy/myopathy of unknown etiology 2002 PEGORARO, ELENAFANIN, MARINATREVISAN, CARLO PIETROANGELINI, CORRADO + THE AMERICAN JOURNAL OF PATHOLOGY - -
Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1 2002 VETTORI, ANDREATREVISAN, CARLO PIETROVAZZA, GIOVANNIARMANI, MARIOMOSTACCIUOLO, MARIA LUISA + JOURNAL OF MEDICAL GENETICS - -
A novel laminin alpha2 isoform in severe laminin alpha2 deficient congenital muscular dystrophy. 2000 PEGORARO, ELENAFANIN, MARINATREVISAN, CARLO PIETROANGELINI, CORRADO + NEUROLOGY - -
Laminin alpha 2 muscular dystrophy: genotype/phenotype study in 22 patients 1998 PEGORARO, ELENAFANIN, MARINATREVISAN, CARLO PIETROANGELINI, CORRADO + NEUROLOGY - -
Novel mutations and polymorphisms in the human dystrophin gene detected by double-strand conformation analysis 1997 Angelini CMostacciuolo MLTrevisan CP + HUMAN MUTATION - -
A severe case of Duchenne-like muscular dystrophy due to a mutation in the alpha-sarcoglycan (adhalin) gene 1996 FANIN, MARINAPEGORARO, ELENASORARU', GIANNIMOSTACCIUOLO, MARIA LUISATREVISAN, CARLO PIETROANGELINI, CORRADO + BASIC AND APPLIED MYOLOGY - -
Clinical varieties of carnitine and carnitine palmitoyltransferase deficiency 1987 Angelini C.Trevisan C.Vergani L. + CLINICAL BIOCHEMISTRY - -
Myoglobinuria and carnitine palmityltransferase (CPT) deficiency: Studies with malonyl-CoA suggest absence of only CPT-II 1984 Trevisan C. P.Angelini C. + NEUROLOGY - -
Mostrati risultati da 21 a 34 di 34
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