|
| 36813309 | Investigation of oxidative phosphorylation activity and complex composition in mitochondrial disease. | Handb Clin Neurol | 2023 |
| 37558808 | Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54. | Eur J Hum Genet | 2023 |
| 37523899 | Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease. | Mol Genet Metab | 2023 |
| 34508595 | Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease. | Hum Mol Genet | 2022 |
| 36256512 | Phenotypic continuum of NFU1-related disorders. | Ann Clin Transl Neurol | 2022 |
| 35321494 | Biallelic variants in <i>TAMM41</i> are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease. | HGG Adv | 2022 |
| 32785646 | Common Susceptibility Loci for Male Breast Cancer. | J Natl Cancer Inst | 2021 |
| 34750991 | Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes. | EMBO Mol Med | 2021 |
| 34715011 | Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations. | Am J Hum Genet | 2021 |
| 31021000 | Recent advances in understanding the molecular genetic basis of mitochondrial disease. | J Inherit Metab Dis | 2020 |
| 32969598 | Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I. | EMBO Mol Med | 2020 |
| 32481479 | Mitochondrial OXPHOS Biogenesis: Co-Regulation of Protein Synthesis, Import, and Assembly Pathways. | Int J Mol Sci | 2020 |
| 32158465 | Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency. | Front Genet | 2020 |
| 31600844 | Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance. | Clin Genet | 2020 |
| 31339582 | Clinical presentation and proteomic signature of patients with TANGO2 mutations. | J Inherit Metab Dis | 2020 |
| 30911575 | Leigh syndrome caused by mutations in <i>MTFMT</i> is associated with a better prognosis. | Ann Clin Transl Neurol | 2019 |
| 29120065 | Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism. | Clin Genet | 2018 |
| 30046662 | Expanding the phenotype of de novo <i>SLC25A4</i>-linked mitochondrial disease to include mild myopathy. | Neurol Genet | 2018 |
| 30201738 | <i>OXA1L</i> mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect. | EMBO Mol Med | 2018 |
| 30109272 | Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23). | Neurol Genet | 2018 |
| 30452684 | Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy. | Hum Mol Genet | 2018 |
| 30419932 | Expanding the clinical phenotype of IARS2-related mitochondrial disease. | BMC Med Genet | 2018 |
| 30566859 | A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways. | Cell Rep | 2018 |
| 29478781 | Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. | Am J Hum Genet | 2018 |
| 29181510 | Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults. | JAMA Neurol | 2018 |
| 27571996 | Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features. | JIMD Rep | 2017 |
| 28942965 | Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. | Am J Hum Genet | 2017 |
| 29075935 | Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits. | Neurogenetics | 2017 |
| 27696117 | Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria. | J Inherit Metab Dis | 2017 |
| 26238252 | Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1? | JIMD Rep | 2016 |
| 27693233 | Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number. | Am J Hum Genet | 2016 |
| 27912046 | Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number. | Am J Hum Genet | 2016 |
| 27392079 | Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies. | Am J Hum Genet | 2016 |
| 27132592 | Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies. | Am J Hum Genet | 2016 |
| 25852744 | Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations. | Front Genet | 2015 |
| 26284110 | Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations. | Front Genet | 2015 |
| 23667686 | Withaferin A effectively targets soluble vimentin in the glaucoma filtration surgical model of fibrosis. | PLoS One | 2013 |
| 20827137 | Adherence to recommendations of the age-related eye disease study in patients with age-related macular degeneration. | Retina | 2010 |
| 20477559 | Cerebral plasticity and recovery of function after childhood prefrontal cortex damage. | Dev Neurorehabil | 2009 |