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Lorenzo Peverelli

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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.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|August 11, 2021
p.Asn1180Ile mutation of SCN4A gene in an Italian family with myopathy and myotonic syndromeAndrea Rigamonti, Vittorio Mantero, Lorenzo Peverelli, et al.
Molecular Genetics and Metabolism Reports|September 23, 2016
Mitochondrial m.3243A > G mutation and carotid artery dissectionMichelangelo Mancuso, Vincenzo Montano, Daniele Orsucci, et al.
American Journal of Medical Genetics. Part A|February 19, 2019
Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairmentAlessia Catania, Andrea Legati, Lorenzo Peverelli, 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.
Muscle & Nerve|April 9, 2014
Mitochondrial myopathy with dystrophic features due to a novel mutation in the MTTM geneLorenzo Peverelli, Carl A Gold, Ali B Naini, et al.
American Journal of Physiology. Cell Physiology|February 6, 2023
Myosin post-translational modifications and function in the presence of myopathy-linked truncating <i>MYH2</i> mutationsAlexander Sonne, Lorenzo Peverelli, Aurelio Hernandez-Lain, 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.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|April 5, 2019
Immune-mediated necrotizing myopathy due to statins exposureLuisa Villa, Alberto Lerario, Sonia Calloni, et al.
Molecular Genetics & Genomic Medicine|June 25, 2020
MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive formRoberta Telese, Serena Pagliarani, Alberto Lerario, et al.
Pageof 3

Showing results (1-10 of 25) with videos related to

Sort By:
Pageof 3
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.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|August 11, 2021
p.Asn1180Ile mutation of SCN4A gene in an Italian family with myopathy and myotonic syndromeAndrea Rigamonti, Vittorio Mantero, Lorenzo Peverelli, et al.
Molecular Genetics and Metabolism Reports|September 23, 2016
Mitochondrial m.3243A > G mutation and carotid artery dissectionMichelangelo Mancuso, Vincenzo Montano, Daniele Orsucci, et al.
American Journal of Medical Genetics. Part A|February 19, 2019
Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairmentAlessia Catania, Andrea Legati, Lorenzo Peverelli, 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.
Muscle & Nerve|April 9, 2014
Mitochondrial myopathy with dystrophic features due to a novel mutation in the MTTM geneLorenzo Peverelli, Carl A Gold, Ali B Naini, et al.
American Journal of Physiology. Cell Physiology|February 6, 2023
Myosin post-translational modifications and function in the presence of myopathy-linked truncating <i>MYH2</i> mutationsAlexander Sonne, Lorenzo Peverelli, Aurelio Hernandez-Lain, 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.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|April 5, 2019
Immune-mediated necrotizing myopathy due to statins exposureLuisa Villa, Alberto Lerario, Sonia Calloni, et al.
Molecular Genetics & Genomic Medicine|June 25, 2020
MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive formRoberta Telese, Serena Pagliarani, Alberto Lerario, et al.
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