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Irene Colombo

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Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|May 11, 2011
Steroid-responsive Hashimoto encephalopathy mimicking Creutzfeldt-Jakob diseaseDomenico Santoro, Irene Colombo, Isabella Ghione, et al.
Cancer Research and Treatment|April 2, 2016
Coexistence of VHL Disease and CPT2 Deficiency: A Case ReportAlfonso Massimiliano Ferrara, Monica Sciacco, Stefania Zovato, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|February 25, 2015
Mitochondrial disease heterogeneity: a prognostic challengeMaurizio Moggio, Irene Colombo, Lorenzo Peverelli, et al.
CEN Case Reports|December 14, 2017
Exertional rhabdomyolysis leading to acute kidney injury: when genetic defects are diagnosed in adult lifeDavid Cucchiari, Irene Colombo, Ottavia Amato, et al.
Medicine|December 9, 2016
A case report with the peculiar concomitance of 2 different genetic syndromesAlberto Lerario, Irene Colombo, Donatella Milani, et al.
Neurology|November 28, 2014
Congenital myopathies: Natural history of a large pediatric cohortIrene Colombo, Mariacristina Scoto, Adnan Y Manzur, et al.
Journal of the Neurological Sciences|December 27, 2011
Optic atrophy plus phenotype due to mutations in the OPA1 gene: two more Italian familiesMichela Ranieri, Roberto Del Bo, Andreina Bordoni, et al.
BMC Neurology|September 26, 2015
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy casesFrancesca Magri, Irene Colombo, Roberto Del Bo, et al.
Journal of the Neurological Sciences|June 22, 2011
Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegiaDario Ronchi, Elisa Fassone, Andreina Bordoni, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|September 9, 2020
Limb girdle muscular dystrophy due to <i>LAMA2</i> gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosisFrancesca Magri, Roberta Brusa, Luca Bello, et al.
Pageof 2

Showing results (1-10 of 19) with videos related to

Sort By:
Pageof 2
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|May 11, 2011
Steroid-responsive Hashimoto encephalopathy mimicking Creutzfeldt-Jakob diseaseDomenico Santoro, Irene Colombo, Isabella Ghione, et al.
Cancer Research and Treatment|April 2, 2016
Coexistence of VHL Disease and CPT2 Deficiency: A Case ReportAlfonso Massimiliano Ferrara, Monica Sciacco, Stefania Zovato, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|February 25, 2015
Mitochondrial disease heterogeneity: a prognostic challengeMaurizio Moggio, Irene Colombo, Lorenzo Peverelli, et al.
CEN Case Reports|December 14, 2017
Exertional rhabdomyolysis leading to acute kidney injury: when genetic defects are diagnosed in adult lifeDavid Cucchiari, Irene Colombo, Ottavia Amato, et al.
Medicine|December 9, 2016
A case report with the peculiar concomitance of 2 different genetic syndromesAlberto Lerario, Irene Colombo, Donatella Milani, et al.
Neurology|November 28, 2014
Congenital myopathies: Natural history of a large pediatric cohortIrene Colombo, Mariacristina Scoto, Adnan Y Manzur, et al.
Journal of the Neurological Sciences|December 27, 2011
Optic atrophy plus phenotype due to mutations in the OPA1 gene: two more Italian familiesMichela Ranieri, Roberto Del Bo, Andreina Bordoni, et al.
BMC Neurology|September 26, 2015
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy casesFrancesca Magri, Irene Colombo, Roberto Del Bo, et al.
Journal of the Neurological Sciences|June 22, 2011
Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegiaDario Ronchi, Elisa Fassone, Andreina Bordoni, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|September 9, 2020
Limb girdle muscular dystrophy due to <i>LAMA2</i> gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosisFrancesca Magri, Roberta Brusa, Luca Bello, et al.
Pageof 2