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Mostrati risultati da 1 a 20 di 38
Titolo Data di pubblicazione Autori Tipo File Abstract
Mercury and dental patients: toxicology, immunology and genetic connection 2005 P.D.M. PigattoS. Lucchiari + Article (author) -
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) -
Clinical and genetic heterogeneity of dysferlin deficiency 2005 F. MagriR. Del BoF. FortunatoC. LampertiS. LucchiariN. BresolinG.P. Comi + Book Part (author) -
Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of Andersen disease associated with a new mutation in GBE gene 2006 Costanza LampertiSabrina SalaniSabrina LucchiariAndreina BordoniMaria Elisa FrugugliettiVeronica CrugnolaNereo BresolinGiacomo Pietro Comi + Article (author) -
Hepatic and neuromuscular forms of glycogenosis Type III : nine mutations in AGL Gene 2006 S. LucchiariS. PagliaraniS. SalaniD. MelisN. 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) -
Disease natural history in a large group of genetically diagnosed glycogen storage disease type III. 2007 D. SantoroS.LucchiariS.PagliaraniA. BordoniS.PaciM.GiovanniniN. BresolinG. P. Comi + Conference Object -
Hypokalaemic periodic paralysis: a new nonsense mutation in KCNJ 2 gene 2007 S.LucchiariS.PagliaraniS.CortiC. LampertiG.P.Comi + Conference Object -
Myotonic dystrophy type 2: clinical, neurophysiological mnd muscular features of a family with short CCTG expansion. 2007 S. LucchiariS. CortiS. PagliaraniM. ServidaE. FrugugliettiN. BresolinG.P. Comi + Conference Object -
Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency 2007 S. LucchiariS. PagliaraniG.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) -
Caratterizzazione molecolare dei geni CLCN1, SCN4A, KCNJ2, CACNA1S in pazienti con canalopatie muscolari 2008 S. PagliaraniS. LucchiariS. CortiF. MagriM. CarpoN. BresolinG.P. Comi + Article (author) -
Glicogenosi di tipo III: rivalutazione delle caratteristiche cliniche e genetiche dei pazienti e stato dell’arte sul modello murino knock-out. 2008 G.P. ComiS. LucchiariS. PagliaraniD. Santoro Conference Object -
Molecular characterization of CLCN1, SCN4A, KCNJ2, CACNA1S genes in patients with muscle channelopathies. 2008 S. LucchiariS. PagliaraniS. CortiF. MagriM. CarpoN. BresolinG.P. Comi + Conference Object -
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients 2008 M. GuglieriF. MagriF. FortunatoA. BordoniR. Del BoS. PagliaraniS. LucchiariS. SalaniC. ZeccaC. LampertiD. RonchiN. BresolinG.P. Comi + Article (author) -
Colocalization of ribonuclear inclusions with muscle blind like-proteins in a family with myotonic dystrophy type 2 associated with a short CCTG expansion 2008 S. LucchiariS. PagliaraniS.P. CortiE. MancinelliM. ServidaM.E. FrugugliettiV. SansoneN. BresolinG.P. ComiG. Meola + Article (author) -
Neuropathological study of skeletal muscle, heart, liver, and brainin a neonatal form of glycogen storage disease type IV associated with a newmutation in GBE1 gene 2009 7. C. LampertiS. SalaniS. LucchiariA. BordoniM. RipoloneME FrugugliettiV. CrugnolaN. BresolinG.P. Comi + Article (author) -
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 -
Redefining clinical phenotype in a large color of Italian non-dystrophic myotonic patients. 2009 V.A. SansoneS. LucchiariA. ZanoliniS. PagliaraniB. FossatiM. PanzeriS. CortiF. MagriN. BresolinG.P. ComiG. Meola. 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 -
Mostrati risultati da 1 a 20 di 38
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