COLOMBO, IRENE

COLOMBO, IRENE  

Universita' degli Studi di MILANO  

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Titolo Data di pubblicazione Autori Tipo File Abstract
A case report with the peculiar concomitance of 2 different genetic syndromes 1-gen-2016 A. LerarioI. ColomboD. MilaniL. PeverelliL. VillaR. DEL BOG.P. ComiS. Esposito + Article (author) -
IgD multiple myeloma paraproteinemia as a cause of myositis 1-gen-2010 I. ColomboM. FrugugliettiV. CrugnolaN. Bresolin + Article (author) -
Impaired muscle mitochondrial biogenesis and myogenesis in spinal muscular atrophy 1-gen-2015 M. RipoloneD. RonchiV. LucchiniI. ColomboL. VillaA. BordoniF. FortunatoS. CortiG.P. Comi + Article (author) -
Incontinence in late onset pompe disease : an underdiagnosed although potentially treatable condition 1-gen-2011 D. RonchiA. BordoniL. PeverelliI. ColomboF. MagriN. BresolinG.P. Comi + Article (author) -
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases 24-set-2015 F. MagriI. ColomboR. Del BoR. BrusaM. ScarlatoD. RonchiM.G. D'AngeloS. CortiN. BresolinG.P. Comi + Article (author) -
Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis 1-giu-2020 Magri F.Brusa R.Bello L.Peverelli L.Govoni A.Cinnante C.Colombo I.Fortunato F.Corti S.Bresolin N.Comi G. P. + Article (author) -
Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation 1-lug-2016 I. ColomboS. PagliaraniC.M. CinnanteA. BordoniF. FortunatoF. MagriG.P. Comi + Article (author) -
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients 1-gen-2016 F. MagriD. RonchiS. CortiI. ColomboN. BresolinG.P. Comi + Article (author) -
Optic atrophy plus phenotype due to mutations in the OPA1 gene: two more Italian families 15-apr-2012 M. RanieriR. Del BoA. BordoniD. RonchiI. ColomboG. RiboldiA. CosiF. MagriN. BresolinG.P. ComiS. Corti + Article (author) -
Spontaneous hydro(syringo)myelic cavity in two unrelated patients with late onset pompe disease: is this a fortuitous association? 1-mar-2011 D. RonchiC. LampertiA. BordoniL. PeverelliI. ColomboF. MagriN. BresolinG. Comi + Article (author) -
Steroid-responsive Hashimoto encephalopathy mimicking Creutzfeldt-Jakob disease 11-ago-2011 D. SantoroI. ColomboI. GhioneL. PeverelliN. Bresolin + Article (author) -
The primary structure of UK114 tumor antigen 1-gen-1996 F. CecilianiA. NegriI. ColomboB. BerraS. Ronchi + Article (author) -
Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia 15-set-2011 D. RonchiE. FassoneA. BordoniV. LucchiniA. Di FonzoI. ColomboA. CosiS. CortiN. BresolinG.P. Comi + Article (author) -