Sfoglia per Autore
The limb girdle muscular dystrophies : clinical, biochemical and genetic evaluation of a large Italian population
2005 M. Guglieri, F. Magri, M.G. D'Angelo, R. Cagliani, A. Bordoni, D. Ronchi, S. Grezzi, R. Del Bo, A. Prelle, M. Moggio, T. Mongini, M. Mora, A.C. Turconi, N. Bresolin, G.P. Comi
The limb girdle muscular dystrophies: clinical, biochemical and genetic evaluation of a large Italian population
2005 M. Guglieri, F. Magri, M.G. D'Angelo, R. Cagliani, A. Bordoni, D. Ronchi, S. Grezzi, R. Del Bo, A. Prelle, M. Moggio, T. Mongini, M. Mora, A.C. Turconi, N. Bresolin, G.P. Comi
Screening of Twinkle gene in POLG1- and ANT1-negative patients with mitochondrial myopathy and multiple mitochondrial DNA deletions : four new mutations
2006 R. Virgilio, D. Ronchi, A. Bordoni, L. Adobbati, G.M. Hadjigeorgiou, D. Kafetsouli, E. Tsironi, A. Papadimitriou, M. Moggio, N. Bresolin, G.P. Comi
New twinkle gene mutations in PEO patients with multiple mitochondrial DNA deletions
2006 R. Virgilio, A. Bordoni, D. Ronchi, G.M. Hadjigeorgiou, R. Del Bo, V. Crugnola, D. Kafetsouli, E. Tsironi, A. Papadimitriou, N. Bresolin, G.P. Comi
Screening of mitochondrial myopathy with mtDNA multiple deletions and characterization of patients without mutations in known loci
2006 R. Virgilio, D. Ronchi, A. Bordoni, L. Adobbati, G.M. Hadjigeorgiou, F. Saladino, A. Papadimitriou, M. Moggio, N. Bresolin, G.P. Comi
Clinical and genetical variability in a large sample of LGMD Italian patients
2007 F. Magri, M. Guglieri, M. D’Angelo, R. Cagliani, R. Del Bo, S. Ghezzi, D. Ronchi, A. Prelle, C. Lamperti, F. Fortunato, L. Morandi, M. Mora, M. Moggio, N. Bresolin, G.P. Comi
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. Corti, A. Bordoni, D. Ronchi, D. Santoro, S. Salani, C. Donadoni, C. Lamperti, V. Lucchini, V. Crugnola, M. Moggio, N. Bresolin, G.P. Comi
Novel Q23R SOD1 mutation associated with muscle mitochondrial dysfunction
2007 D. Ronchi, S. Corti, A. Bordoni, D. Santoro, D. Papadimitriou, C. Lamperti, V. Lucchini, M. Magri, M. Guglieri, V. Crugnola, M. Moggio, N. Bresolin, G.P. Comi
A novel mutation in the mitochondrial tRNA LeuCUN gene associated with a mitochondrial myopathy with respiratory impairment
2007 R. Virgilio, A. Bordoni, D. Ronchi, F. Saladino, N. Bresolin, M. Sciacco, G.P. Comi
Familial amyotrophic lateral sclerosis with a novel Q23R mutation in the copper/zinc superoxide dismutase gene associated with muscle mitochondrial dysfunction
2007 S. Corti, A. Bordoni, D. Ronchi, D. Santoro, D. Papadimitriou, C. Lamperti, V. Lucchini, F. Magri, M. Guglieri, V. Crugnola, M. Moggio, N. Bresolin, G.P. Comi
Clinical, molecular and protein correlations in a large sample of genetically diagnosed limb girdle muscular dystrophy patients
2007 M. Guglieri, F. Magri, M.G. D’Angelo, A. Prelle, R. Cagliani, B. Parini, F. Fortunato, A. Bordoni, R. Del Bo, S. Ghezzi, S. Lucchiari, S. Salani, C. Zecca, C. Lamperti, D. Ronchi, P. Ciscato, L. Morandi, M. Mora, I. Moroni, C. Rodolico, A. Toscano, M. Moggio, 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. Comi, M. Moggio, N. Bresolin, M. Sciacco
mtDNA depletion in a case of fatal infant cytochrome c oxidase deficiency presenting with clinical feature of type 1 spinal muscular atrophy
2008 V. Lucchini, M. Berardinelli, M. Carpanelli, M. Sciacco, A. Bordoni, D. Ronchi, E. Fassone, M. Servida, M. Pluderi, G.P. Comi, M. Moggio, N. Bresolin, C. Lamperti
Analisi molecolare del gene GAA e caratterizzazione di due nuove mutazioni di splicing in pazienti con deficit di maltasi acida.
2008 D. Ronchi, G. Remiche, A. Bordoni, E. Fassone, C. Montrasio, F. Magri, G.P. Comi, M. Nizzardo
Adult form type II Glycogen Storage Disease in a Northern Italy population :_phenotype, charatcerization, early diagnosis and prognostic determinants
2008 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
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients
2008 M. Guglieri, F. Magri, M.G. D’Angelo, A. Prelle, L. Morandi, C. Rodolico, R. Cagliani, M. Mora, F. Fortunato, A. Bordoni, R. Del Bo, S. Ghezzi, S. Pagliarani, S. Lucchiari, S. Salani, C. Zecca, C. Lamperti, D. Ronchi, M. Aguennouz, P. Ciscato, C. Di Blasi, A. Ruggieri, I. Moroni, A. Turconi, M. Moggio, A. Toscano, N. Bresolin, G.P. Comi
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
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
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
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
Legenda icone
- file ad accesso aperto
- file disponibili sulla rete interna
- file disponibili agli utenti autorizzati
- file disponibili solo agli amministratori
- file sotto embargo
- nessun file disponibile