Presentation
Scientific Publications
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2021Journal (source)Dev Med Child Neurol.
Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic di...
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2019Journal (source)Hum. Mutat.
Clinical, neuroimaging and biochemical findings in patients and patient fibro...
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2018Journal (source)Hum. Mol. Genet.
Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein...
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2018Journal (source)Hum. Mutat.
Inhibition of mitochondrial translation in fibroblasts from a patient express...
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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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2018Journal (source)J Med Genet
.High predictive value of brain MRI imaging in primary mitochondrial respirato...
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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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2016Journal (source)Am. J. Hum. Genet.
Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and...