Presentation
Scientific Publications
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2021Journal (source)BloodDefective palmitoylation of transferrin receptor triggers iron overload in Fr...
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2009Journal (source)Am J Hum Genet
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive...
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2009Journal (source)Am J Hum Genet
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive...
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2017Journal (source)J Med Genet
Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non...
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2017Journal (source)J Med Genet
Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non...
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2021Journal (source)Blood
Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative bl...
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2020Journal (source)Hum. Mutat.
Clinical, neuroimaging and biochemical findings in patients and patient fibro...
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2020Journal (source)Hum. Mol. Genet.
Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein...
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2018Journal (source)Am. J. Hum. Genet.
Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegenerati...
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2019Journal (source)Nature
Mitochondrial double-stranded RNA triggers antiviral signalling in humans.
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2018Journal (source)Am. J. Hum. Genet.
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Senso...
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2017Journal (source)Am. J. Hum. Genet.
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal ...
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2018Journal (source)Am. J. Hum. Genet.
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with...
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2019Journal (source)Hum. Mutat.
Inhibition of mitochondrial translation in fibroblasts from a patient express...
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2019Journal (source)J. Med. Genet.
Segregation of mitochondrial DNA mutations in the human placenta: implication...
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2017Journal (source)Am. J. Hum. Genet.
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe En...
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2017Journal (source)Am. J. Hum. Genet.
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associa...
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2018Journal (source)Nat Commun
Genetic diagnosis of Mendelian disorders via RNA sequencing.
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2017Journal (source)Am. J. Hum. Genet.
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitoch...
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2018Journal (source)J. Med. Genet.
No correlation between mtDNA amount and methylation levels at the CpG island ...
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2017Journal (source)Eur. J. Hum. Genet.
High incidence and variable clinical outcome of cardiac hypertrophy due to AC...
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2017Journal (source)Am. J. Hum. Genet.
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.
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2017Journal (source)Am. J. Hum. Genet.
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing ...
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2017Journal (source)Am. J. Hum. Genet.
Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and...