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Mostrati risultati da 21 a 40 di 152
Titolo Data di pubblicazione Autori Tipo File Abstract
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) -
Adult form type II Glycogen Storage Disease in a Northern Italy population :_phenotype, charatcerization, early diagnosis and prognostic determinants 2008 D. RonchiC. LampertiM.G. D'AngeloA. BordoniF. MagriN. BresolinG.P. Comi + Article (author) -
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) -
Stop Codons, Duplications and Deletions of the Dystrophin Gene: Frequency and Clinical Follow-Up in 201 DMD Patients 2008 F. MagriA. BordoniS. CortiY. TorrenteN. BresolinG. P. Comi + Article (author) -
A stop codon mutation in the 5’ of the dystrophin gene associated to a Becker muscular dystrophy phenotype 2008 F. MagriR. VirgilioR. Del BoF. FortunatoR. CaglianiM. SironiV. CrugnolaN. BresolinG.P. Comi + Article (author) -
Comprehensive genetic analysis and clinical follow-up findings in 203 DMD patients 2008 R. VirgilioF. MagriR. Del BoA. BordoniC. LampertiS. CortiY. TorrenteN. BresolinG.P. Comi + Article (author) -
Becker muscular dystrophy with a stop codon mutation in the 5′ of the dystrophin gene 2008 F. MagriR. Del BoF. FortunatoR. CaglianiM. SironiV. CrugnolaN. BresolinG.P. Comi + Article (author) -
Autosomal Recessive Ala93Thr mutation in caveolin-3 gene : a new family 2008 F.M.B. MagriC. LampertiD. RonchiE. FassoneN. BresolinG.P. Comi + Article (author) -
Clinical trial using nitric oxide releasing drug and nonsteroidal antiinflammatory drugs in muscular dystrophy: Design of a study. 2009 S. GandossiniM.G. d’AngeloS. BonatoG.P. ComiF. MagriN. BresolinE. Clementi + Conference Object -
Adult Form Type II Glycogen Storage Disease in a Northern Italy Population : Phenotype Characterization, Early Diagnosis and Prognostic Determinants 2009 D. RonchiC. LampertiA. BordoniF. MagriN. BresolinG. P. Comi + Article (author) -
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 -
De novo small duplication in Lamin A/C gene associated with congenital muscular dystrophy phenotype. 2009 F. MagriR. Del BoC. LampertiM.G. D’AngeloG.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 -
Molecular epidemiology and clinical features of a large Italian cohort of 291 dystrophinopathic patients. 2009 F. MagriM.G. D’AngeloR. Del BoR. VirgilioS. BonatoS. GandossiniA. BordoniS. CortiV. CrugnolaC. LampertiN. BresolinG.P. Comi. + Conference Object -
Reading frame nelle distrofinopatie: le regole delle eccezioni 2009 F. MagriR. Del BoMG D'angeloS. GandossiniF. FortunatoV. CrugnolaN. BresolinG.P. Comi + Conference Object -
Novel CLCN1 gene mutation associated with myotonia congenita in Italian patients. 2009 S. LucchiariV. SansoneS. PagliaraniS. CortiF. MagriC. LampertiM.G. D’AngeloN. BresolinG.P. ComiG. Meola. + Conference Object -
La canalopatia del cloro : diagnosi clinica differenziale 2009 V. SansoneS. LucchiariS. PagliaraniS. CortiF. MagriC. LampertiG. D'AngeloN. BresolinG.P. ComiG. Meola + Conference Object -
Reliability of the North Star Ambulatory Assessment in a multicentric setting. 2009 F. MagriG. Comi + Article (author) -
A novel intronic DYS gene mutation leading to a pseudoexon insertion in a DMD patient 2010 A. GovoniF. MagriR. Del BoF. FortunatoG.P. Comi + Conference Object -
Mostrati risultati da 21 a 40 di 152
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