Benedetta Ruzzenente

ORCID

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 8

Top Venues

Life (Basel, Switzerland)

Developmental medicine and child neurology

Brain : a journal of neurology

Human mutation

This page only lists publications with an associated author ORCID identifier.

Publications

Cérane Cafournet, Sofia Zanin, Anne Guimier, Marie Hully, Zahra Assouline, Giulia Barcia, Pascale de Lonlay, Julie Steffann, Arnold Munnich, Jean-Paul Bonnefont, Agnes Rotig, Benedetta Ruzzenente, Metodi D Metodiev
Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy. Life (Basel, Switzerland) 13 (2) (2023)
Cérane Cafournet, Sofia Zanin, Anne Guimier, Marie Hully, Zahra Assouline, Giulia Barcia, Pascale de Lonlay, Julie Steffann, Arnold Munnich, Jean-Paul Bonnefont, Agnes Rotig, Benedetta Ruzzenente, Metodi D Metodiev
Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy. Life (Basel, Switzerland) 13 (2) (2023)
Cérane Cafournet, Sofia Zanin, Anne Guimier, Marie Hully, Zahra Assouline, Giulia Barcia, Pascale de Lonlay, Julie Steffann, Arnold Munnich, Jean-Paul Bonnefont, Agnes Rotig, Benedetta Ruzzenente, Metodi D Metodiev
Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy. Life (Basel, Switzerland) 13 (2) (2023)
Lucile Boutaud, Benedetta Ruzzenente, 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, Agnes Rotig, Laurence Loeuilllet, Tania Attié-Bitach
Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect. Brain : a journal of neurology (2022)
Klervie Loiselet, Benedetta Ruzzenente, Charles-Joris Roux, Giulia Barcia, Alessandra Pennisi, Isabelle Desguerre, Agnes Rotig, Arnold Munnich, Nathalie Boddaert, null null
Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic disorders. Developmental medicine and child neurology 63 (6) (2021)
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, Agnes Rotig, Metodi D Metodiev, Benedetta Ruzzenente
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival. European journal of human genetics : EJHG 29 (3) (2020)
Eduardo Silva Ramos, Elisa Motori, Christian Brüser, Inge Kühl, Assa Yeroslaviz, Benedetta Ruzzenente, Johanna H K Kauppila, Jakob D Busch, Kjell Hultenby, Bianca Hermine Habermann, Stefan Jakobs, Nils-Göran Larsson, Arnaud Mourier
Mitochondrial fusion is required for regulation of mitochondrial DNA replication. PLoS genetics 15 (6) (2019)
Giulia Barcia, Marlène Rio, Zahra Assouline, Coralie Zangarelli, Naig Gueguen, Valerie D Dumas, Pascale Marcorelles, Manuel Schiff, Abdelhamid Slama, Magalie Barth, Marie Hully, Pascale de Lonlay, Arnold Munnich, Isabelle Desguerre, Jean-Paul Bonnefont, Julie Steffann, Vincent Procaccio, Nathalie Boddaert, Agnès Rötig, Metodi D Metodiev, Benedetta Ruzzenente
Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations. Human mutation 41 (2) (2019)

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Publication Activity (10 Years)

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Benedetta Ruzzenente