|
| 37567761 | Leigh syndrome: an adult presentation of a paediatric disease. | Pract Neurol | 2024 |
| 36305855 | Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants. | Genet Med | 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 |
| 37516995 | Neuromuscular disease genetics in under-represented populations: increasing data diversity. | Brain | 2023 |
| 37259148 | Astrocytic pathology in Alpers' syndrome. | Acta Neuropathol Commun | 2023 |
| 37454282 | Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder. | Genet Med | 2023 |
| 37013609 | Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability. | EMBO Mol Med | 2023 |
| 37272928 | Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants. | Genet Med | 2023 |
| 37362424 | Structural analysis of mitochondrial rRNA gene variants identified in patients with deafness. | Front Physiol | 2023 |
| 37161784 | FBXL4 suppresses mitophagy by restricting the accumulation of NIX and BNIP3 mitophagy receptors. | EMBO J | 2023 |
| 36813309 | Investigation of oxidative phosphorylation activity and complex composition in mitochondrial disease. | Handb Clin Neurol | 2023 |
| 36513735 | Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines. | Eur J Hum Genet | 2023 |
| 36807806 | Genomic Strategies in Mitochondrial Diagnostics. | Methods Mol Biol | 2023 |
| 36538176 | Fosgonimeton, a Novel Positive Modulator of the HGF/MET System, Promotes Neurotrophic and Procognitive Effects in Models of Dementia. | Neurotherapeutics | 2023 |
| 36635110 | Mitochondrial signalling and homeostasis: from cell biology to neurological disease. | Trends Neurosci | 2023 |
| 34508595 | Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease. | Hum Mol Genet | 2022 |
| 35617047 | RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis. | J Clin Invest | 2022 |
| 35616428 | Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS-related disorders. | Am J Med Genet A | 2022 |
| 35614220 | Defining mitochondrial protein functions through deep multiomic profiling. | Nature | 2022 |
| 35379322 | Clinical implementation of RNA sequencing for Mendelian disease diagnostics. | Genome Med | 2022 |
| 35790454 | Delineating selective vulnerability of inhibitory interneurons in Alpers' syndrome. | Neuropathol Appl Neurobiol | 2022 |
| 35394429 | PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families. | Genet Med | 2022 |
| 36518302 | Changing faces of mitochondrial disease: autosomal recessive POLG disease mimicking myasthenia gravis and progressive supranuclear palsy. | BMJ Neurol Open | 2022 |
| 36399564 | Nonstop mRNAs generate a ground state of mitochondrial gene expression noise. | Sci Adv | 2022 |
| 36231115 | A Novel Homozygous Founder Variant of <i>RTN4IP1</i> in Two Consanguineous Saudi Families. | Cells | 2022 |
| 36199067 | Correction: Acipimox in Mitochondrial Myopathy (AIMM): study protocol for a randomised, double-blinded, placebo-controlled, adaptive design trial of the efficacy of acipimox in adult patients with mitochondrial myopathy. | Trials | 2022 |
| 36127727 | Acipimox in Mitochondrial Myopathy (AIMM): study protocol for a randomised, double-blinded, placebo-controlled, adaptive design trial of the efficacy of acipimox in adult patients with mitochondrial myopathy. | Trials | 2022 |
| 36055214 | Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement. | Am J Hum Genet | 2022 |
| 36256512 | Phenotypic continuum of NFU1-related disorders. | Ann Clin Transl Neurol | 2022 |
| 35914810 | Novel &lt;i&gt;DNM1L&lt;/i&gt; variants impair mitochondrial dynamics through divergent mechanisms. | Life Sci Alliance | 2022 |
| 35030325 | Mosaic dysfunction of mitophagy in mitochondrial muscle disease. | Cell Metab | 2022 |
| 34873722 | Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency. | J Inherit Metab Dis | 2022 |
| 35141356 | Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy. | Mov Disord Clin Pract | 2022 |
| 35024855 | Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease. | Hum Mol Genet | 2022 |
| 34927673 | Forecasting stroke-like episodes and outcomes in mitochondrial disease. | Brain | 2022 |
| 35321494 | Biallelic variants in <i>TAMM41</i> are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease. | HGG Adv | 2022 |
| 34716721 | Natural History of Leigh Syndrome: A Study of Disease Burden and Progression. | Ann Neurol | 2022 |
| 33431889 | LONP1 and mtHSP70 cooperate to promote mitochondrial protein folding. | Nat Commun | 2021 |
| 33602924 | POLRMT mutations impair mitochondrial transcription causing neurological disease. | Nat Commun | 2021 |
| 33742325 | Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease. | Mol Biol Rep | 2021 |
| 33513266 | The molecular pathology of pathogenic mitochondrial tRNA variants. | FEBS Lett | 2021 |
| 33842062 | Neuromuscular Junction Abnormalities in Mitochondrial Disease: An Observational Cohort Study. | Neurol Clin Pract | 2021 |
| 33586140 | The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi-omic pipelines. | J Pathol | 2021 |
| 35121898 | Author Correction: Age-associated mitochondrial DNA mutations cause metabolic remodeling that contributes to accelerated intestinal tumorigenesis. | Nat Cancer | 2021 |
| 34873176 | 2-Deoxy-D-glucose couples mitochondrial DNA replication with mitochondrial fitness and promotes the selection of wild-type over mutant mitochondrial DNA. | Nat Commun | 2021 |
| 34758253 | 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report. | N Engl J Med | 2021 |
| 34400813 | PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families. | Genet Med | 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 |