COLOMBO, IRENE
COLOMBO, IRENE
Universita' degli Studi di MILANO
Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis
2020 F. Magri, R. Brusa, L. Bello, L. Peverelli, R.D. Bo, A. Govoni, C. Cinnante, I. Colombo, F. Fortunato, R. Tironi, S. Corti, N. Grimoldi, M. Sciacco, N. Bresolin, E. Pegoraro, M. Moggio, G.P. Comi
A case report with the peculiar concomitance of 2 different genetic syndromes
2016 A. Lerario, I. Colombo, D. Milani, L. Peverelli, L. Villa, R. DEL BO, M. Sciacco, G.P. Comi, S. Esposito, M. Moggio
Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation
2016 I. Colombo, S. Pagliarani, S. Testolin, C.M. Cinnante, G. Fagiolari, P. Ciscato, A. Bordoni, F. Fortunato, F. Magri, S.C. Previtali, D. Velardo, M. Sciacco, G.P. Comi, M. Moggio
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients
2016 D. Piga, F. Magri, D. Ronchi, S. Corti, D. Cassandrini, E. Mercuri, G. Tasca, E. Bertini, F. Fattori, A. Toscano, S. Messina, I. Moroni, M. Mora, M. Moggio, I. Colombo, T. Giugliano, M. Pane, C. Fiorillo, A. D’Amico, C. Bruno, V. Nigro, N. Bresolin, G.P. Comi
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases
2015 F. Magri, I. Colombo, R. Del Bo, S. Previtali, R. Brusa, P. Ciscato, M. Scarlato, D. Ronchi, M.G. D'Angelo, S. Corti, M. Moggio, N. Bresolin, G.P. Comi
Impaired muscle mitochondrial biogenesis and myogenesis in spinal muscular atrophy
2015 M. Ripolone, D. Ronchi, R. Violano, D. Vallejo, G. Fagiolari, E. Barca, V. Lucchini, I. Colombo, L. Villa, A. Berardinelli, U. Balottin, L. Morandi, M. Mora, A. Bordoni, F. Fortunato, S. Corti, D. Parisi, A. Toscano, M. Sciacco, S. Di Mauro, G.P. Comi, M. Moggio
Optic atrophy plus phenotype due to mutations in the OPA1 gene: two more Italian families
2012 M. Ranieri, R. Del Bo, A. Bordoni, D. Ronchi, I. Colombo, G. Riboldi, A. Cosi, M. Servida, F. Magri, M. Moggio, N. Bresolin, G.P. Comi, S. Corti
Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia
2011 D. Ronchi, E. Fassone, A. Bordoni, M. Sciacco, V. Lucchini, A. Di Fonzo, M. Rizzuti, I. Colombo, L. Napoli, P. Ciscato, M. Moggio, A. Cosi, M. Collotta, S. Corti, N. Bresolin, G.P. Comi
Incontinence in late onset pompe disease : an underdiagnosed although potentially treatable condition
2011 G. Remiche, A. Herbaut, D. Ronchi, C. Lamperti, A. Bordoni, L. Peverelli, I. Colombo, F. Magri, M. Moggio, N. Bresolin, G.P. Comi
Steroid-responsive Hashimoto encephalopathy mimicking Creutzfeldt-Jakob disease
2011 D. Santoro, I. Colombo, I. Ghione, L. Peverelli, N. Bresolin, M. Sciacco, A. Prelle
Spontaneous hydro(syringo)myelic cavity in two unrelated patients with late onset pompe disease: is this a fortuitous association?
2011 G. Remiche, D. Ronchi, C. Lamperti, A. Bordoni, L. Peverelli, I. Colombo, F. Magri, M. Moggio, N. Bresolin, G. Comi
IgD multiple myeloma paraproteinemia as a cause of myositis
2010 I. Colombo, M. Fruguglietti, L. Napoli, M. Sciacco, E. Tagliaferri, A. Della Volpe, V. Crugnola, N. Bresolin, M. Moggio, A. Prelle
The primary structure of UK114 tumor antigen
1996 F. Ceciliani, L. Faotto, A. Negri, I. Colombo, B. Berra, A. Baertorelli, S. Ronchi