Metodi D Metodiev
3PUBLICATIONS
4CO-AUTHORS
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Publications (3)
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|Nov 10, 2020
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival.Giulia Barcia, Marlène Rio, Zahra Assouline
|Nov 05, 2019
Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations.Giulia Barcia, Marlène Rio, Zahra Assouline
|Sep 26, 2018
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, Zahra Assouline, Giulia Barcia
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