Résultat de recherche

Right ventricular myocardium derives from the anterior heart field.

Sigolène Meilhac

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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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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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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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Genetic diagnosis of Mendelian disorders via RNA sequencing.

Agnès Rötig

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

Agnès Rötig

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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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