Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations

High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiency

(2018) Isaure de Beaurepaire et al.   JOURNAL OF MEDICAL GENETICS

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

(2018) Benedetta Ruzzenente et al.   HUMAN MUTATION

Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency

(2017) Mariella T. Simon et al.   MITOCHONDRION

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies

(2016) Masakazu Kohda et al.   PLoS Genetics

Mitochondrial ribosome assembly in health and disease

(2015) Dasmanthie De Silva et al.   CELL CYCLE

The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data

(2013) Gautier Koscielny et al.   NUCLEIC ACIDS RESEARCH

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

(2012) S. E. Calvo et al.   Science Translational Medicine

Toward genotype phenotype correlations in GFM1 mutations

(2011) Louise Galmiche et al.   MITOCHONDRION

Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle

(2010) Paulien Smits et al.   EUROPEAN JOURNAL OF HUMAN GENETICS