Résultat de recherche

Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis.

Benedetta RUZZENENTE, Arnold Munnich, Agnès Rötig, Metodi METODIEV

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NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.

Giulia Barcia, Agnès Rötig

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Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

Benedetta RUZZENENTE, Agnès Rötig, Metodi METODIEV

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Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.

Benedetta RUZZENENTE, Arnold Munnich, Agnès Rötig, Metodi METODIEV

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Mitochondrial double-stranded RNA triggers antiviral signalling in humans.

Agnès Rötig, Arnold Munnich, Manuel SCHIFF

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Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation.

Floriane PETIT, Chris OTTOLENGHI, Metodi METODIEV, Arnold Munnich, Agnès Rötig

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Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement.

Benedetta RUZZENENTE, Lucas BIANCHI, Arnold Munnich, Agnès Rötig, Metodi METODIEV

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

Manuel SCHIFF, Arnold Munnich, Jean Paul BONNEFONT, Julie STEFFANN, Agnès Rötig, Metodi METODIEV, Benedetta RUZZENENTE

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Efficacy of ruxolitinib in subcutaneous panniculitis-like T-cell lymphoma and hemophagocytic lymphohistiocytosis.

Romain Levy, Frédéric Guérin, Despina Moshous, Alain Fischer, Geneviève de Saint Basile, Fernando Sepulveda , Bénédicte Neven

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Kinesin-1 regulates antigen cross-presentation through the scission of tubulations from early endosomes in dendritic cells.

Meriem Belabed, Mathieu Kurowska, Alain Fischer, Geneviève de Saint Basile, Fernando Sepulveda , Gaël Ménasché

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Does Hydroxychloroquine Combat COVID-19? A Timeline of Evidence.

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