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Stefania Corti

Showing results (201-210 of 287) with videos related to

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Science Translational Medicine|December 21, 2012
Genetic correction of human induced pluripotent stem cells from patients with spinal muscular atrophyStefania Corti, Monica Nizzardo, Chiara Simone, et al.
Journal of Cellular and Molecular Medicine|July 26, 2022
MicroRNAs as serum biomarkers in Becker muscular dystrophyDelia Gagliardi, Mafalda Rizzuti, Roberta Brusa, et al.
BMC Neurology|November 8, 2020
A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutationArianna Manini, Tommaso Bocci, Alice Migazzi, et al.
Parkinsonism & Related Disorders|March 10, 2019
Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathyEdoardo Monfrini, Letizia Straniero, Sara Bonato, et al.
Frontiers in Genetics|December 26, 2022
Analysis of miRNA rare variants in amyotrophic lateral sclerosis and <i>in silico</i> prediction of their biological effectsAlberto Brusati, Antonia Ratti, Viviana Pensato, et al.
Frontiers in Neurology|July 15, 2021
Early Findings in Neonatal Cases of <i>RYR1</i>-Related Congenital MyopathiesEleonora Mauri, Daniela Piga, Alessandra Govoni, et al.
European Journal of Human Genetics : EJHG|December 23, 2011
The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairmentDario Ronchi, Monica Sciacco, Andreina Bordoni, et al.
Human Molecular Genetics|October 11, 2019
Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove SyndromeGiacomo Bitetto, Dario Ronchi, Sara Bonato, et al.
Nature Communications|August 20, 2021
Sumoylation regulates the assembly and activity of the SMN complexGiulietta M Riboldi, Irene Faravelli, Takaaki Kuwajima, et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie|June 6, 2026
Integrated electrophysiological, cellular, and pharmacological profiling reveals variant-specific mechanisms in SCN4A-related myotoniaAnthony Frosio, Serena Calamaio, Serena Pagliarani, et al.
Pageof 29

Showing results (201-210 of 287) with videos related to

Sort By:
Pageof 29
Science Translational Medicine|December 21, 2012
Genetic correction of human induced pluripotent stem cells from patients with spinal muscular atrophyStefania Corti, Monica Nizzardo, Chiara Simone, et al.
Journal of Cellular and Molecular Medicine|July 26, 2022
MicroRNAs as serum biomarkers in Becker muscular dystrophyDelia Gagliardi, Mafalda Rizzuti, Roberta Brusa, et al.
BMC Neurology|November 8, 2020
A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutationArianna Manini, Tommaso Bocci, Alice Migazzi, et al.
Parkinsonism & Related Disorders|March 10, 2019
Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathyEdoardo Monfrini, Letizia Straniero, Sara Bonato, et al.
Frontiers in Genetics|December 26, 2022
Analysis of miRNA rare variants in amyotrophic lateral sclerosis and <i>in silico</i> prediction of their biological effectsAlberto Brusati, Antonia Ratti, Viviana Pensato, et al.
Frontiers in Neurology|July 15, 2021
Early Findings in Neonatal Cases of <i>RYR1</i>-Related Congenital MyopathiesEleonora Mauri, Daniela Piga, Alessandra Govoni, et al.
European Journal of Human Genetics : EJHG|December 23, 2011
The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairmentDario Ronchi, Monica Sciacco, Andreina Bordoni, et al.
Human Molecular Genetics|October 11, 2019
Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove SyndromeGiacomo Bitetto, Dario Ronchi, Sara Bonato, et al.
Nature Communications|August 20, 2021
Sumoylation regulates the assembly and activity of the SMN complexGiulietta M Riboldi, Irene Faravelli, Takaaki Kuwajima, et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie|June 6, 2026
Integrated electrophysiological, cellular, and pharmacological profiling reveals variant-specific mechanisms in SCN4A-related myotoniaAnthony Frosio, Serena Calamaio, Serena Pagliarani, et al.
Pageof 29