A novel composition of two heterozygous GFM1 mutations in a Chinese child with epilepsy and mental retardation

A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4

(2019) Tova Hershkovitz et al.   JOURNAL OF HUMAN GENETICS

Recent advances in understanding the molecular genetic basis of mitochondrial disease

(2019) Kyle Thompson et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings

(2019) Marcello Scala et al.   NEUROGENETICS

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

(2019) Giulia Barcia et al.   HUMAN MUTATION

ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology

(2017) Ingrid E. Scheffer et al.   EPILEPSIA

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

(2017) Mariella T. Simon et al.   MITOCHONDRION

Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits

(2017) Ruth I. C. Glasgow et al.   NEUROGENETICS

Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita

(2015) Shinobu Fukumura et al.   JOURNAL OF HUMAN GENETICS

Mitochondria: Mitochondrial OXPHOS (dys) function ex vivo – The use of primary fibroblasts

(2014) Ann Saada   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy

(2014) S. Ahola et al.   NEUROLOGY

Mitochondrial translation initiation machinery: Conservation and diversification

(2013) Anton Kuzmenko et al.   BIOCHIMIE

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

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

Analysis of the Mitochondrial Complex I-V Enzyme Activities of Peripheral Leukocytes in Oxidative Phosphorylation Disorders

(2011) Yan-Yan Ma et al.   JOURNAL OF CHILD NEUROLOGY

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

Mitochondrial Translation and Beyond: Processes Implicated in Combined Oxidative Phosphorylation Deficiencies

(2010) Paulien Smits et al.   JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Transcriptional co-expression and co-regulation of genes coding for components of the oxidative phosphorylation system

(2008) Corina van Waveren et al.   BMC GENOMICS