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Benedetta Ruzzenente

6PUBLICATIONS

20CO-AUTHORS

Neurology and neuromuscular diseasesMetabolic medicineEvolution of developmental systemsCellular nervous systemMedical infection agents (incl. prions)

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Publications (6)

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|Feb 25, 2023

Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy.

Cérane Cafournet, Sofia Zanin, Anne Guimier

|Nov 09, 2022

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

Lucile Boutaud, Benedetta Ruzzenente, Aude Tessier

|Jan 29, 2021

Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic disorders.

Klervie Loiselet, Benedetta Ruzzenente, Charles-Joris Roux

|Nov 10, 2020

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

Giulia Barcia, Marlène Rio, Zahra Assouline

|Nov 05, 2019

Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations.

Giulia Barcia, Marlène Rio, Zahra Assouline

|Jun 07, 2019

Mitochondrial fusion is required for regulation of mitochondrial DNA replication.

Eduardo Silva Ramos, Elisa Motori, Christian Brüser

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Frequent Collaborators

4 joint publications

Agnès Rötig

2 joint publications

Metodi D Metodiev

2 joint publications

Giulia Barcia

1 joint publications

Eduardo Silva Ramos

1 joint publications

Christian Brüser

1 joint publications

Inge Kühl

1 joint publications

Assa Yeroslaviz

1 joint publications

Bianca H Habermann

1 joint publications

Stefan Jakobs

1 joint publications

Nils-Göran Larsson

Frequent Collaborators

4 joint publications

Agnès Rötig

2 joint publications

Metodi D Metodiev

2 joint publications

Giulia Barcia

1 joint publications

Eduardo Silva Ramos

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