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1853 results found for your search

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

    Metodi METODIEV, Arnold Munnich, Agnès Rötig

    Source :

    Am. J. Hum. Genet.

    2017 May 15

    Pmid / DOI:

    27132592

  • Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.

    Agnès Rötig, Stanislas Lyonnet, Jeanne Amiel

    Source :

    Am. J. Hum. Genet.

    2017 May 2

    Pmid / DOI:

    27523598

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

    Metodi METODIEV, Arnold Munnich, Agnès Rötig

    Source :

    Eur. J. Hum. Genet.

    2017 Jul 24

    Pmid / DOI:

    26669660

  • 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

    Source :

    J. Med. Genet.

    2018 Jan 8

    Pmid / DOI:

    28069933

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

    Floriane PETIT, Stanislas Lyonnet, Agnès Rötig, Sandrine Marlin

    Source :

    Am. J. Hum. Genet.

    2017 Oct 16

    Pmid / DOI:

    28965846

  • Genetic diagnosis of Mendelian disorders via RNA sequencing.

    Agnès Rötig

    Source :

    Nat Commun

    2018 Nov 21

    Pmid / DOI:

    28604674

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

    Clément PONTOIZEAU, Agnès Rötig, Chris OTTOLENGHI

    Source :

    Am. J. Hum. Genet.

    2017 Sep 7

    Pmid / DOI:

    28757203

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

    Agnès Rötig

    Source :

    Am. J. Hum. Genet.

    2017 May 24

    Pmid / DOI:

    27989324

  • 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

    Source :

    J. Med. Genet.

    2019 Sep 10

    Pmid / DOI:

    28754700

  • 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

    Source :

    Hum. Mutat.

    2019 Oct 7

    Pmid / DOI:

    30252186

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

    Giulia Barcia, Agnès Rötig

    Source :

    Am. J. Hum. Genet.

    2018 Dec 11

    Pmid / DOI:

    29429571

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

    Benedetta RUZZENENTE, Agnès Rötig, Metodi METODIEV

    Source :

    Am. J. Hum. Genet.

    2017 Sep 7

    Pmid / DOI:

    28777931