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Caterina Garone

Showing results (31-40 of 54) with videos related to

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Mitochondrion|April 2, 2021
SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in ItalyMichelangelo Mancuso, Chiara La Morgia, Maria Lucia Valentino, et al.
Human Molecular Genetics|October 3, 2014
Fhl1 W122S causes loss of protein function and late-onset mild myopathyValentina Emmanuele, Akatsuki Kubota, Beatriz Garcia-Diaz, et al.
Brain : a Journal of Neurology|November 29, 2017
Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational familyPeter J Kullar, Aurora Gomez-Duran, Payam A Gammage, et al.
Neurology|March 3, 2025
Infantile TK2 Deficiency Causing Mitochondrial Encephalomyopathy With Migrating Focal SeizuresLuca Bergonzini, Sara Carli, Silvia Pelle, et al.
Journal of Child Neurology|December 13, 2006
Unusual diagnosis in a child suffering from juvenile Alexander disease: clinical and imaging reportEmilio Franzoni, Marjo S Van der Knaap, Alessandra Errani, et al.
Nucleic Acids Research|July 6, 2019
NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAsLindsey Van Haute, Song-Yi Lee, Beverly J McCann, et al.
Human Molecular Genetics|October 4, 2017
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndromeCaterina Garone, Aaron R D'Souza, Cristina Dallabona, et al.
Brain : a Journal of Neurology|October 9, 2012
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletionsDario Ronchi, Caterina Garone, Andreina Bordoni, et al.
Nature Communications|February 18, 2022
A late-stage assembly checkpoint of the human mitochondrial ribosome large subunitPedro Rebelo-Guiomar, Simone Pellegrino, Kyle C Dent, et al.
Developmental Medicine and Child Neurology|July 27, 2010
Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasisVenkateswaran Ramesh, Bruno Bernardi, Altin Stafa, et al.
Pageof 6

Showing results (31-40 of 54) with videos related to

Sort By:
Pageof 6
Mitochondrion|April 2, 2021
SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in ItalyMichelangelo Mancuso, Chiara La Morgia, Maria Lucia Valentino, et al.
Human Molecular Genetics|October 3, 2014
Fhl1 W122S causes loss of protein function and late-onset mild myopathyValentina Emmanuele, Akatsuki Kubota, Beatriz Garcia-Diaz, et al.
Brain : a Journal of Neurology|November 29, 2017
Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational familyPeter J Kullar, Aurora Gomez-Duran, Payam A Gammage, et al.
Neurology|March 3, 2025
Infantile TK2 Deficiency Causing Mitochondrial Encephalomyopathy With Migrating Focal SeizuresLuca Bergonzini, Sara Carli, Silvia Pelle, et al.
Journal of Child Neurology|December 13, 2006
Unusual diagnosis in a child suffering from juvenile Alexander disease: clinical and imaging reportEmilio Franzoni, Marjo S Van der Knaap, Alessandra Errani, et al.
Nucleic Acids Research|July 6, 2019
NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAsLindsey Van Haute, Song-Yi Lee, Beverly J McCann, et al.
Human Molecular Genetics|October 4, 2017
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndromeCaterina Garone, Aaron R D'Souza, Cristina Dallabona, et al.
Brain : a Journal of Neurology|October 9, 2012
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletionsDario Ronchi, Caterina Garone, Andreina Bordoni, et al.
Nature Communications|February 18, 2022
A late-stage assembly checkpoint of the human mitochondrial ribosome large subunitPedro Rebelo-Guiomar, Simone Pellegrino, Kyle C Dent, et al.
Developmental Medicine and Child Neurology|July 27, 2010
Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasisVenkateswaran Ramesh, Bruno Bernardi, Altin Stafa, et al.
Pageof 6