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Mostrati risultati da 1 a 20 di 29
Titolo Data di pubblicazione Autori Tipo File Abstract
COQ 10 deficiency in statin related Myopathy. 2005 C. LampertiV. LucchiniCRUGNOLA, VERONICAN. Bresolin + Article (author) -
New twinkle gene mutations in PEO patients with multiple mitochondrial DNA deletions 2006 R. VirgilioA. BordoniD. RonchiR. Del BoV. CrugnolaA. PapadimitriouN. BresolinG.P. Comi + Article (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) -
Facio-Scapulo-Humeral dystrophy (FSMD) : morphological characterization of mouse model 2006 C. ZeccaV. CrugnolaC. LampertiN. Bresolin + Article (author) -
Follow-up of a large population of asymptomatic / oligosymptomatic hyperckemic subjects. 2006 M.E. FrugugliettiV.CrugnolaV.LucchiniC.ZeccaC.LampertiG.P.ComiN.Bresolin + Article (author) -
Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of Andersen Disease associated with a new mutation in GBE1 gene 2006 Costanza LampertiSabrina SalaniElisa FrugugliettiAndreina BordoniMichela RipoloneVeronica CrugnolaNereo BresolinGiacomo Pietro Comi + Article (author) -
Novel SOD1 Q23R mutation associated with muscle mitochondrial dysfunction in familial ALS International Meeting “Mutant SOD1 and familial ALS: from the molecule to man 2007 S. CortiA. BordoniD. RonchiD. SantoroS. SalaniC. LampertiV. LucchiniV. CrugnolaN. 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 -
Purkinje cell mitochondrial oxidative defect in the animal model of spinocerebellar ataxia type 1 Clinical and pathological aspects of an Italian patient with inclusion body myopathy and frontotemporal dementia carrying a novel mutation in valosin-containing protein gene. 2007 V. LucchiniC. LampertiF. FortunatoV. CrugnolaN. BresolinG. P. ComiS. Bonato + Conference Object -
Muscle mitochondrial oxidative defects in Amyotrophic Lateral Scelosis 2007 V. CrugnolaV. LucchiniS. CortiN. TicozziFRUGUGLIETTI, MARIA ELISAD. SantoroR. VirgilioV. SilaniN. BresolinG.P. Comi + Article (author) -
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) -
Morphological pattern of muscle biopsy in a large cohort of FSHD patients 2008 V. CrugnolaM. ServidaN. Bresolin + Conference Object -
Descrizione di un caso clinico con inusuale affaticabilità muscolare e miopatia metabolica 2008 V. CrugnolaG.P. Comi + Article (author) -
A Late Role of ANT-1 Overexpression in the Pathogenesis of FSHD 2008 C. LampertiV. CrugnolaM. ServidaF. FortunatoA. Di FonzoG. P. ComiN. Bresolin + 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) -
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) -
Infantile inflammatory myopathy presenting as SMARD 1V 2009 CrugnolaG.P. ComiN. BresolinC. Lamperti + Conference Object -
Amyotrophic lateral sclerosis linked to a novel SOD1 mutation with muscle mitochondrial dysfunction 2009 S. CortiD. RonchiA. BordoniF. FortunatoD. SantoroR. Del BoV. LucchiniV. CrugnolaD. PapadimitriouS. SalaniN. BresolinG.P. Comi + 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) -
Congenital myopathy with ptosis, ophthalmoplegia and muscle dystrophic changes: a possible sporadic case of myosin heavy chain type IIa myopathy. 2009 V. LucchiniV. CrugnolaM. ServidaA. BordoniD. RonchiN. BresolinG.P. ComiY. Torrente + Conference Object -
Mostrati risultati da 1 a 20 di 29
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