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Titolo Data di pubblicazione Autori Tipo File Abstract
One gene, two clinical profiles:novel GBE1 mutations in GSD type IV and Adult Polyglucosan Body Disease. 2009 S. PagliaraniC. MarchesiC. LampertiS. LucchiariE. SalsanoA. BordoniG.P. Comi + Conference Object -
Molecular epidemiology and clinical features of a large Italian cohort of 291 dystrophinopathic patients. 2009 F. MagriA. BordoniS. CortiN. BresolinG.P. Comi.C. MarchesiS. PagliaraniS. LucchiariE. Salsano + Conference Object -
Phenotypic heterogeneity of GBE1 mutations: congenital glycogen storage disease type IV and adult polyglucosan body disease. 2009 S. PagliaraniS. LucchiariE. SalsanoA. BordoniG.P. Comi + Conference Object -
Different mutations at V363 MAPT codon are associated with atypical clinical phenotypes and show unusual structural and functional features 2014 E. Del FaveroL. CantùS. MottaE. SalsanoV. SilaniC. Morelli + Article (author) -
Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease 2014 C. MarchesiMAZZEO, ANTONELLAS. PagliaraniS. LucchiariG.P. ComiE. Salsano + Article (author) -
Human adipose-derived mesenchymal stem cells as a new model of spinal and bulbar muscular atrophy 2014 M. DossenaG. BediniP. RusminiE. GiorgettiA. CanazzaV. TosettiE. SalsanoG. MarfiaF. CorsiA. Poletti + Article (author) -
Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency 2019 Castellotti B.Salsano E.Tonduti D. + Article (author) -
RARS1-related hypomyelinating leukodystrophy : Expanding the spectrum 2020 Tonduti, DavideSalsano, Ettore + Article (author) -
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