Benedetta Ruzzenente

Affiliations

Laboratory for Genetics of Mitochondrial Disorders, INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.

Publications (6)

Linear Density Sucrose Gradients to Study Mitoribosomal Biogenesis in Tissue-Specific Knockout Mice.

Methods in molecular biology (Clifton, N.J.)

Avec: Metodi D Metodiev

Biallelic

Haematologica

Avec: Giulia Barcia , Dinusha Pandithan , Zahra Assouline , Alessandra Pennisi , Clothilde Ormieres , Claude Besmond , Charles-Joris Roux , Nathalie Boddaert , Isabelle Desguerre , David R Thorburn , Drago Bratkovic , Arnold Munnich , Jean-Paul Bonnefont , Agnès Rötig , Julie Steffann

Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival.

European journal of human genetics : EJHG

Avec: Giulia Barcia , Marlène Rio , Zahra Assouline , Coralie Zangarelli , Charles-Joris Roux , Pascale de Lonlay , Julie Steffann , Isabelle Desguerre , Arnold Munnich , Jean-Paul Bonnefont , Nathalie Boddaert , Agnès Rötig , Metodi D Metodiev ,

Mitochondrial fusion is required for regulation of mitochondrial DNA replication.

PLoS genetics

Avec: Eduardo Silva Ramos , Elisa Motori , Christian Brüser , Inge Kühl , Assa Yeroslaviz , Johanna H K Kauppila , Jakob D Busch , Kjell Hultenby , Bianca H Habermann , Stefan Jakobs , Nils-Göran Larsson , Arnaud Mourier

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 cells.

Molecular genetics and metabolism

Avec: Juliette Pulman , Martin Horak , Giulia Barcia , Nathalie Boddaert , Arnold Munnich , Agnès Rötig , Metodi D Metodiev

Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect.

Brain : a journal of neurology

Avec: Lucile Boutaud , Aude Tessier , Olivia Anselem , Emmanuelle Pannier , Sarah Grotto , Naïma Talhi , Daniel Amram , Marjolaine Willems , Constance Wells , Patricia Blanchet , Yuri Musizzano , Clémence Jauny , Patrick Nitschke , Christine Bole-Feysot , Bettina Bessières , Houria Salhi , Amale Achaiaa , Metodi D Metodiev , Ferechte Razavi , Agnès Rötig , Laurence Loeuilllet , Tania Attié-Bitach

Réseau de co-auteurs

Metodi D Metodiev 4 collaborations

Agnès Rötig 4 collaborations

Giulia Barcia 3 collaborations

Nathalie Boddaert 3 collaborations

Arnold Munnich 3 collaborations

Zahra Assouline 2 collaborations

Charles-Joris Roux 2 collaborations

Isabelle Desguerre 2 collaborations

Jean-Paul Bonnefont 2 collaborations

Julie Steffann 2 collaborations

Dinusha Pandithan 1 collaboration

Alessandra Pennisi 1 collaboration

Clothilde Ormieres 1 collaboration

Claude Besmond 1 collaboration

David R Thorburn 1 collaboration

Drago Bratkovic 1 collaboration

Marlène Rio 1 collaboration

Coralie Zangarelli 1 collaboration

Pascale de Lonlay 1 collaboration

Eduardo Silva Ramos 1 collaboration

Elisa Motori 1 collaboration

Christian Brüser 1 collaboration

Inge Kühl 1 collaboration

Assa Yeroslaviz 1 collaboration

Johanna H K Kauppila 1 collaboration

Jakob D Busch 1 collaboration

Kjell Hultenby 1 collaboration

Bianca H Habermann 1 collaboration

Stefan Jakobs 1 collaboration

Nils-Göran Larsson 1 collaboration

Arnaud Mourier 1 collaboration

Juliette Pulman 1 collaboration

Martin Horak 1 collaboration

Lucile Boutaud 1 collaboration

Aude Tessier 1 collaboration

Olivia Anselem 1 collaboration

Emmanuelle Pannier 1 collaboration

Sarah Grotto 1 collaboration

Naïma Talhi 1 collaboration

Daniel Amram 1 collaboration

Marjolaine Willems 1 collaboration

Constance Wells 1 collaboration

Patricia Blanchet 1 collaboration

Yuri Musizzano 1 collaboration

Clémence Jauny 1 collaboration

Patrick Nitschke 1 collaboration

Christine Bole-Feysot 1 collaboration

Bettina Bessières 1 collaboration

Houria Salhi 1 collaboration

Amale Achaiaa 1 collaboration

Ferechte Razavi 1 collaboration

Laurence Loeuilllet 1 collaboration

Tania Attié-Bitach 1 collaboration