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Mostrati risultati da 1 a 20 di 152
Titolo Data di pubblicazione Autori Tipo File Abstract
Autosomal dominant and recessive limb-girdle muscular dystrophies: relative frequency in a large Italian population 2005 M.GuglieriF. MagriF. FortunatoS. LucchiariR. Del BoA. BordoniC. ZeccaC. LampertiN. BresolinG.P. Comi + Article (author) -
Dysferlinopathies : muscle annexin A1 and A2 expression levels correlate with clinical phenotype in a large group of genetically diagnosed patients 2005 F. MagriF. FortunatoC. LampertiN. BresolinG.P. Comi + Article (author) -
The limb girdle muscular dystrophies : clinical, biochemical and genetic evaluation of a large Italian population 2005 F MagriD. RonchiN. BresolinG.P. Comi + Article (author) -
The limb girdle muscular dystrophies: clinical, biochemical and genetic evaluation of a large Italian population 2005 M. GuglieriF MagriA. BordoniD. RonchiR. Del BoN. BresolinG. P. Comi + Article (author) -
Molecular etiopathogenesis of Limb Girdle Muscular and Congenital Muscular Dystrophies: boundaries and contiguities 2005 M.GuglieriF. MagriG.P. Comi Article (author) -
Clinical and genetic heterogeneity of dysferlin deficiency 2005 F. MagriR. Del BoF. FortunatoC. LampertiS. LucchiariN. BresolinG.P. Comi + Book Part (author) -
Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies 2005 F. MagriF. FortunatoC. LampertiN. BresolinG.P. Comi + Article (author) -
Autosomal recessive myopathy without inclusion bodies caused by GNE gene mutation. 2006 R.DEL BOM. GUGLIERIF.MAGRIN. BRESOLING.P. COMI. + Article (author) -
A novel GENE mutations causes familial recessive myopathy without inclusion bodies 2006 R. Del BoM. GuglieriF. MagriN. BresolinG.P. Comi + Article (author) -
Limb-Girdle muscular dystrophies : clinical features and genetic frequency in a large Italian population 2006 M. GuglieriF. MagriR. CaglianiF. FortunatoS. LucchiariS. SalaniR. Del BoC. ZeccaC. LampertiN. BresolinG.P. Comi + Article (author) -
Dysferlinopathies: clinical and genetic correlation in a large population 2006 M. GuglieriF. MagriR. CaglianiF. FortunatoR. Del BoC. ZeccaC. LampertiN. BresolinG.P. Comi + Article (author) -
Clinical and genetical variability in a large sample of LGMD Italian patients 2007 F. MagriM. GuglieriM. D’AngeloR. CaglianiR. Del BoD. RonchiC. LampertiF. FortunatoN. BresolinG.P.Comi + Conference Object -
Novel Q23R SOD1 mutation associated with muscle mitochondrial dysfunction 2007 D. RonchiS. CortiA. BordoniD. SantoroD. PapadimitriouC. LampertiV. LucchiniM. MagriM. GuglieriV. CrugnolaN. BresolinG.P. Comi + Conference Object -
Genotype and phenotype correlation in dysferlinopathies 2007 F. MagriR. CaglianiM.G. D'AngeloR. Del BoF. FortunatoN. BresolinG.P. Comi + Conference Object -
Familial amyotrophic lateral sclerosis with a novel Q23R mutation in the copper/zinc superoxide dismutase gene associated with muscle mitochondrial dysfunction 2007 S. CortiA. BordoniD. RonchiD. SantoroD. PapadimitriouC. LampertiV. LucchiniF. MagriM. GuglieriV. CrugnolaN. BresolinG.P. Comi + Article (author) -
Clinical, molecular and protein correlations in a large sample of genetically diagnosed limb girdle muscular dystrophy patients 2007 F. MagriF. FortunatoA. BordoniS. SalaniD. RonchiN. BresolinG.P. Comi + Article (author) -
Autosomal dominant and recessive limb-girdle muscular dystrophies : clinical, genetic relative frequency in a large Italian population 2007 M. GuglieriF. MagriR. CaglianiF. FortunatoS. LucchiariS. SalaniR. Del BoC. ZeccaC. LampertiN. BresolinG.P. Comi + Article (author) -
Neuroborreliosis mimicking a paraneoplastic syndrome 2007 F. MagriM. ScarlatoF. LocatelliM. CarpoN. BresolinG.P. Comi + Article (author) -
Stop codons, duplicazioni e delezioni: caratterizzazione genetica e follow-up clinico in una coorte di 201 pazienti affetti da distrofia Muscolare di Duchenne 2008 F. MagriR. VirgilioR. Del BoA. BordoniC. LampertiS. CortiY. TorrenteN. BresolinG.P. Comi + Article (author) -
Analisi molecolare del gene GAA e caratterizzazione di due nuove mutazioni di splicing in pazienti con deficit di maltasi acida. 2008 D. RonchiA. BordoniE. FassoneF. MagriG.P. ComiM. Nizzardo + Conference Object -
Mostrati risultati da 1 a 20 di 152
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