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Mostrati risultati da 1 a 20 di 42
Titolo Data di pubblicazione Autori Tipo File Abstract
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 -
A novel CHRNE gene mutation associated with congenital myasthenia: case report and review of the literature 2010 F. MagriA. GovoniR. Del BoN. BresolinG.P. ComiS. Corti + Conference Object -
Dystrophin gene mutations and their clinical correlates in 319 Italian patients affected with dystrophinopathy 2010 F. MagriA. GovoniR. Del BoA. BordoniS. CortiN. BresolinG.P. Comi + Conference Object -
Nuova mutazione intronica nel gene della distrofina determinante inserzione di un pseudo esone in paziente DMD 2010 F. MagriA. GovoniR. Del BoA. BordoniF. FortunatoG.P. Comi + Conference Object -
Systemic transplantation of c-kit+ cells exerts a therapeutic effect in a model of amyotrophic lateral sclerosis 2010 S. CortiM. NizzardoM. NardiniS. SalaniC. SimoneM. FalconeA. GovoniN. BresolinG.P. Comi + Article (author) -
The m.12316G>A mutation in the mitochondrial tRNA Leu(CUN) gene is associated with mitochondrial myopathy and respiratory impairment 2010 D. RonchiR. VirgilioA. BordoniE. FassoneA. GovoniS. CortiN. BresolinG.P. Comi + Article (author) -
Frequency and characterization of anoctamin 5 mutations in Italian limb girdle muscular dystrophy patients 2011 F. MagriR. Del BoA. GovoniS. CortiN. BresolinG.P. Comi + Conference Object -
Congenital myopathies : clinical, morphological and molecular findings in a sample of 29 Italian patients 2011 A. GovoniF. MagriM. ScarlatoN. BresolinS. CortiG. Comi + Article (author) -
Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms 2011 M. NizzardoM. NardiniD. RonchiS. SalaniF. FortunatoM. FalconeC. SimoneA. GovoniN. BresolinG.P. ComiS. Corti + Article (author) -
Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing 2011 F.M.B. MagriR. Del BoM.G.N. D'AngeloA. GovoniS. GandossiniA. BordoniS. TedeschiF.R. FortunatoV. LucchiniM. CeredaS.P CortiN. BresolinG.P. Comi + Article (author) -
Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms 2011 M. NizzardoNARDINI, MARTINAD. RonchiS. SalaniDONADONI, CHIARAF. FortunatoFALCONE, MARIANNAC. SimoneG. RiboldiGOVONI, ALESSANDRAN. BresolinG.P. ComiS. Corti + Article (author) -
Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up 2011 F. MagriA. GovoniM.G. D'AngeloR. Del BoA. BordoniTEDESCHI, SABRINAF. FortunatoV. LucchiniS. BonatoC. LampertiY. TorrenteS. CortiN. BresolinG.P. Comi + Article (author) -
CPEO due to mutations in the tRNA for isolucine : two additional Italian cases. 2012 D. RonchiA. GovoniG. RiboldiV. SilaniS. CortiN. BresolinG.P. Comi + Article (author) -
Genetic correction of spinal muscular atrophy-induced pluripotent stem cells and motoneurons as a disease model and cell source for transplantation 2012 G. RiboldiM. NizzardoM. NardiniC. SimoneM. FalconeD. RonchiS. SalaniF. MagriF. RizzoA. GovoniI. FaravelliN. BresolinG.P. ComiS. Corti + Article (author) -
Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients 2012 F. MagriR. Del BoA. GovoniA. BordoniV. LucchiniS. CortiN. BresolinG.P. Comi + Article (author) -
The Italian limb girdle muscular dystrophies (LGMD) registry : molecular and clinical data 2013 A. GovoniR. Del BoS. BrajkovicF. FortunatoD. RonchiG. RiboldiS. CortiN. BresolinF. MagriG.P. Comi + Article (author) -
LAMA2 gene mutations are cause of congenital and limb-girdle muscular dystrophies 2013 R. Del BoF. MagriF. FortunatoM.G. D’AngeloF. BiancoA. GovoniS. CortiN. BresolinG.P. Comi + Article (author) -
Growing evidence about the relationship between vessel dissection and Scuba diving 2013 S. BrajkovicG. RiboldiA. GovoniS. CortiN. BresolinG.P. Comi Article (author) -
The expanding spectrum of LAMA2 gene mutations : from congenital muscular dystrophy 1A to limb girdle muscular dystrophy 2R 2013 F. MagriR. Del BoF. FortunatoM. D’AngeloA. GovoniR. BrusaS. BrajkovicS. CortiN. BresolinG. Comi + Article (author) -
Ongoing therapeutic trials and outcome measures for Duchenne muscular dystrophy 2013 A. GovoniF. MagriI. FaravelliS. CortiN. BresolinG.P. Comi + Article (author) -
Mostrati risultati da 1 a 20 di 42
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