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Benedetta Ruzzenente

Showing results (11-20 of 36) with videos related to

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Molecular Genetics and Metabolism|October 8, 2021
Variants in the MIPEP gene presenting with complex neurological phenotype without cardiomyopathy, impair OXPHOS protein maturation and lead to a reduced OXPHOS abundance in patient cellsJuliette Pulman, Benedetta Ruzzenente, Martin Horak, et al.
Human Molecular Genetics|December 20, 2018
Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvementJuliette Pulman, Benedetta Ruzzenente, Lucas Bianchi, et al.
Nature Communications|November 18, 2017
LRPPRC-mediated folding of the mitochondrial transcriptomeStefan J Siira, Henrik Spåhr, Anne-Marie J Shearwood, et al.
Developmental Medicine and Child Neurology|January 29, 2021
Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic disordersKlervie Loiselet, Benedetta Ruzzenente, Charles-Joris Roux, et al.
Nature|October 10, 2014
POLRMT does not transcribe nuclear genesInge Kühl, Christian Kukat, Benedetta Ruzzenente, et al.
Human Molecular Genetics|February 9, 2013
TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replicationDusanka Milenkovic, Stanka Matic, Inge Kühl, et al.
Plos Genetics|February 12, 2014
NSUN4 is a dual function mitochondrial protein required for both methylation of 12S rRNA and coordination of mitoribosomal assemblyMetodi Dimitrov Metodiev, Henrik Spåhr, Paola Loguercio Polosa, et al.
Plos Genetics|October 25, 2011
The bicoid stability factor controls polyadenylation and expression of specific mitochondrial mRNAs in Drosophila melanogasterAna Bratic, Anna Wredenberg, Sebastian Grönke, et al.
Molecular Genetics and Metabolism Reports|July 2, 2026
Functional characterization of a biallelic <i>MIPEP</i> variant associated with global developmental delay, infantile epileptic spasms syndrome, and hypotoniaBenedetta Ruzzenente, Pierre-Hadrien Becker, Elissa Afram, et al.
Life (Basel, Switzerland)|February 25, 2023
Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of CardiomyopathyCérane Cafournet, Sofia Zanin, Anne Guimier, et al.
Pageof 4

Showing results (11-20 of 36) with videos related to

Sort By:
Pageof 4
Molecular Genetics and Metabolism|October 8, 2021
Variants in the MIPEP gene presenting with complex neurological phenotype without cardiomyopathy, impair OXPHOS protein maturation and lead to a reduced OXPHOS abundance in patient cellsJuliette Pulman, Benedetta Ruzzenente, Martin Horak, et al.
Human Molecular Genetics|December 20, 2018
Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvementJuliette Pulman, Benedetta Ruzzenente, Lucas Bianchi, et al.
Nature Communications|November 18, 2017
LRPPRC-mediated folding of the mitochondrial transcriptomeStefan J Siira, Henrik Spåhr, Anne-Marie J Shearwood, et al.
Developmental Medicine and Child Neurology|January 29, 2021
Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic disordersKlervie Loiselet, Benedetta Ruzzenente, Charles-Joris Roux, et al.
Nature|October 10, 2014
POLRMT does not transcribe nuclear genesInge Kühl, Christian Kukat, Benedetta Ruzzenente, et al.
Human Molecular Genetics|February 9, 2013
TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replicationDusanka Milenkovic, Stanka Matic, Inge Kühl, et al.
Plos Genetics|February 12, 2014
NSUN4 is a dual function mitochondrial protein required for both methylation of 12S rRNA and coordination of mitoribosomal assemblyMetodi Dimitrov Metodiev, Henrik Spåhr, Paola Loguercio Polosa, et al.
Plos Genetics|October 25, 2011
The bicoid stability factor controls polyadenylation and expression of specific mitochondrial mRNAs in Drosophila melanogasterAna Bratic, Anna Wredenberg, Sebastian Grönke, et al.
Molecular Genetics and Metabolism Reports|July 2, 2026
Functional characterization of a biallelic <i>MIPEP</i> variant associated with global developmental delay, infantile epileptic spasms syndrome, and hypotoniaBenedetta Ruzzenente, Pierre-Hadrien Becker, Elissa Afram, et al.
Life (Basel, Switzerland)|February 25, 2023
Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of CardiomyopathyCérane Cafournet, Sofia Zanin, Anne Guimier, et al.
Pageof 4