Metodi D Metodiev

Years Active: 2018-2020
Publications (10 Years): 3

This page only lists publications with an associated author ORCID identifier.

Publications

Giulia Barcia, Marlène Rio, Zahra Assouline, Coralie Zangarelli, Charles-Joris Roux, Pascale de Lonlay, Julie Steffann, Isabelle Desguerre, Arnold Munnich, Jean-Paul Bonnefont, Nathalie Boddaert, Agnes Rotig, Metodi D Metodiev, Benedetta Ruzzenente
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival. European journal of human genetics : EJHG 29 (3) (2020)
Giulia Barcia, Marlène Rio, Zahra Assouline, Coralie Zangarelli, Naig Gueguen, Valerie D Dumas, Pascale Marcorelles, Manuel Schiff, Abdelhamid Slama, Magalie Barth, Marie Hully, Pascale de Lonlay, Arnold Munnich, Isabelle Desguerre, Jean-Paul Bonnefont, Julie Steffann, Vincent Procaccio, Nathalie Boddaert, Agnès Rötig, Metodi D Metodiev, Benedetta Ruzzenente
Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations. Human mutation 41 (2) (2019)
Benedetta Ruzzenente, Zahra Assouline, Giulia Barcia, Marlène Rio, Nathalie Boddaert, Arnold Munnich, Agnès Rötig, Metodi D Metodiev
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. Human mutation 39 (12) (2018)

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