Sfoglia per Autore
Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency
2008 S.P. Corti, A. Bordoni, D. Ronchi, O. Musumeci, M. Aguennouz, A. Toscano, C. Lamperti, N. Bresolin, G.P. Comi
Stop Codons, Duplications and Deletions of the Dystrophin Gene: Frequency and Clinical Follow-Up in 201 DMD Patients
2008 F. Magri, R. Del Bo, S. Ghezzi, S. Tedeschi, M.G. D'Angelo, D. Coviello, A. Prelle, A. Bordoni, M. Sciacco, C. Lamperti, S. Corti, Y. Torrente, M. Moggio, N. Bresolin, G.P. Comi
Clinical features of an adult-onset Leigh syndrome caused by the T9176C mutation in the mitochondrial DNA ATPase 6 gene
2008 D. Ronchi, A. Bordoni, R. Virgilio, E. Fassone, A. DiFonzo, M. Servida, M. Ronconi, V. Lucchini, M. Matteoli, N. Bresolin, G.P. Comi
Mitochondrial DNA G8363A mutation in the tRNA Lys gene : clinical features of a new family
2008 R. Virgilio, D. Ronchi, A. Bordoni, E. Fassone, M. Moggio, S. Bonato, G. Conti, C. Donadoni, L. Barbetta, G. Torgano, S. Corti, N. Bresolin, G.P. Comi
Cephalalgia, myopathy and familial dementia with CADASIL-like MRI and multiple mtDNA deletions
2008 M. Servida, L. Napoli, D. Ronchi, P. Ciscato, A. Bordoni, A. Prelle, G.P. Comi, M. Moggio, N. Bresolin, M. Sciacco
Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia
2008 R. Virgilio, D. Ronchi, G.M. Hadjigeorgiou, A. Bordoni, F. Saladino, M. Moggio, L. Adobbati, D. Kafetsouli, E. Tsironi, S. Previtali, A. Papadimitriou, N. Bresolin, G.P. Comi
Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy
2008 S.P. Corti, M. Nizzardo, M. Nardini, C. Donadoni, S. Salani, D. Ronchi, F. Saladino, A. Bordoni, F.R. Fortunato, R. Del Bo, D. Papadimitriou, F. Locatelli, G. Menozzi, S. Strazzer, N. Bresolin, G.P. Comi
Comprehensive genetic analysis and clinical follow-up findings in 203 DMD patients
2008 R. Virgilio, F. Magri, R. Del Bo, S. Ghezzi, S. Tedeschi, M.G. D’Angelo, D. Coviello, A. Prelle, A. Bordoni, M. Sciacco, C. Lamperti, S. Corti, Y. Torrente, M. Moggio, N. Bresolin, G.P. Comi
Mitocondriapatia, Ehlers-Danlos, e CADASIL: coesistenza di caratteristiche delle tre patologie nella stessa famiglia.
2009 I. Colombo, M. Servida, A. Bordoni, P. Ciscato, A. Prelle, G.P. Comi, M.T. Bassi, R. Guerrini, E. Parrini, N. Bresolin, M. Moggio, M. Sciacco
Adult Form Type II Glycogen Storage Disease in a Northern Italy Population : Phenotype Characterization, Early Diagnosis and Prognostic Determinants
2009 G. Remiche, D. Ronchi, C. Lamperti, M.G. D'Angelo, A. Bordoni, C. Montrasio, V. Crugnola, F. Magri, M. Moggio, N. Bresolin, G.P. Comi
Amyotrophic lateral sclerosis linked to a novel SOD1 mutation with muscle mitochondrial dysfunction
2009 S. Corti, C. Donadoni, D. Ronchi, A. Bordoni, F. Fortunato, D. Santoro, R. Del Bo, V. Lucchini, V. Crugnola, D. Papadimitriou, S. Salani, M. Moggio, N. Bresolin, G.P. Comi
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. . Lamperti, S. Salani, S. Lucchiari, A. Bordoni, M. Ripolone, G. Fagiolari, M. Fruguglietti, V. Crugnola, C. Colombo, A. Cappellini, A. Prelle, N. Bresolin, G.P. Comi, M. Moggio
One gene, two clinical profiles:novel GBE1 mutations in GSD type IV and Adult Polyglucosan Body Disease.
2009 S. Pagliarani, C. Marchesi, C. Lamperti, S. Lucchiari, L. Morandi, E. Salsano, M. Savoiardo, A. Bordoni, M. Moggio, G.P. Comi, Pareyson
Mitochondrial, Ehlers-Danlos and CADASIL features in the same family: a genetic puzzle or a new disease entità?
2009 I. Colombo, M. Servida, A. Bordoni, P. Ciscato, A. Prelle, G.P. Comi, M.T. Bassi, A. Bassotti, M. Valli, N. Bresolin, M. Moggio, M. Sciacco
The mitochondrial disulfide relay system protein GFER is mutated in sutosomal-tecessive myopathy with vataract and vombined respiratory-chain deficiency
2009 A.B. Di Fonzo, D. Ronchi, T. Lodi , E. Fassone, M. Tigano, C. Lamperti, S.P. Corti, A. Bordoni, F.R. Fortunato, M. Nizzardo, L. Napoli, C. Donadoni, S. Salani, F. Saladino, M. Moggio, N. Bresolin, I. Ferrero, G.P. Comi
Novel homozygous mutation in SOD1 gene in a patient with familial amyotrophic lateral sclerosis
2009 D. Ronchi, M. Raimondi, C. Zecca, A. Bordoni, S. Corti, C. Gobbi, G.P. Comi
The mitochondrial disulfide relay system protein GFER is mutated in autosomal recessive myopathy with congenital cataract and COX deficiency.
2009 A. Di Fonzo, D. Ronchi, T. Lodi, E. Fassone, M. Tigano, C. Lamperti, S. Corti, A. Bordoni, F. Fortunato, M. Nizzardo, L. Napoli, C. Donadoni, S. Salani, M. Moggio, N. Bresolin, I. Ferrero, G.P. Comi
Congenital myopathy with ptosis, ophthalmoplegia and muscle dystrophic changes: a possible sporadic case of myosin heavy chain type IIa myopathy.
2009 V. Lucchini, L. Napoli, V. Crugnola, M. Servida, P. Ciscato, A. Bordoni, D. Ronchi, A. Lerario, A. Oldfors, A. Prelle, N. Bresolin, G.P. Comi, M. Moggio, Y. Torrente, M. Sciacco
The mitochondrial disulfide relay system protein GFER is mutated in autosomal recessive myopathy with congenital cataract and COX deficiency
2009 A. Di Fonzo, D. Ronchi, T. Lodi, E. Fassone, M. Tingano, C. Lamperti, S. Corti, A. Bordoni, F. Fortunato, M. Nizzardo, L. Napoli, C. Donadoni, S. Salani, M. Moggio, N. Bresolin, I. Ferrero, G. Comi
Molecular epidemiology and clinical features of a large Italian cohort of 291 dystrophinopathic patients.
2009 F. Magri, A. Govoni, M.G. D’Angelo, R. Del Bo, S. Tedeschi, S. Ghezzi, R. Virgilio, S. Bonato, S. Gandossini, A. Bordoni, S. Corti, V. Crugnola, A. Prelle, C. Lamperti, M. Moggio, N. Bresolin, G.P. Comi, C. Marchesi, S. Pagliarani, S. Lucchiari, E. Salsano
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