Publications and ressources

Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency.

Benedetta RUZZENENTE, Lucas BIANCHI, Metodi METODIEV, Agnès Rötig

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Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.

Metodi METODIEV, Arnold Munnich, Agnès Rötig

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Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.

Agnès Rötig, Stanislas Lyonnet, Jeanne Amiel

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Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice

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