Publications and ressources

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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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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Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders.

Agnès Rötig, Arnold Munnich, Jean Paul BONNEFONT, Julie STEFFANN

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Mitochondrial double-stranded RNA triggers antiviral signalling in humans.

Agnès Rötig, Arnold Munnich, Manuel SCHIFF

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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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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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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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Genetic diagnosis of Mendelian disorders via RNA sequencing.

Agnès Rötig

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No correlation between mtDNA amount and methylation levels at the CpG island of POLG exon 2 in wild-type and mutant human differentiated cells.

Julie STEFFANN, Agnès Rötig, Arnold Munnich, Jean Paul BONNEFONT

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FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.

Floriane PETIT, Stanislas Lyonnet, Agnès Rötig, Sandrine Marlin

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Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.

Clément PONTOIZEAU, Agnès Rötig, Chris OTTOLENGHI

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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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High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.

Metodi METODIEV, Arnold Munnich, Agnès Rötig

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Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.

Agnès Rötig

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