[Review] Mitochondrial disease in adults: recent advances and future promise

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The diagnosis of posterior reversible encephalopathy syndrome.

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Pathogenic variants in MT-ATP6: a United Kingdom-based mitochondrial disease cohort study.

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Leber hereditary optic neuropathy.

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Ocular motility findings in chronic progressive external ophthalmoplegia.

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Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction.

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OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation.

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Pathogenic mtDNA mutations causing mitochondrial myopathy: the need for muscle biopsy.

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Mitochondrial myopathy induces a starvation-like response.

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Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies.

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Fibroblast growth factor 21 and grow differentiation factor 15 are sensitive biomarkers of mitochondrial diseases due to mitochondrial transfer-RNA mutations and mitochondrial DNA deletions.

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Growth differentiation factor 15 as a useful biomarker for mitochondrial disorders.

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Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease.

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Growth differentiation factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy.

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Expanding and validating the biomarkers for mitochondrial diseases.

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Serum biomarkers in primary mitochondrial disorders.

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Fibroblast growth factor 21 drives dynamics of local and systemic stress responses in mitochondrial myopathy with mtDNA deletions.

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Mitochondrial DNA replication defects disturb cellular dNTP pools and remodel one-carbon metabolism.

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Metabolomes of mitochondrial diseases and inclusion body myositis patients: treatment targets and biomarkers.

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Niacin cures systemic NAD+ deficiency and improves muscle performance in adult-onset mitochondrial myopathy.

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Using urine to diagnose large-scale mtDNA deletions in adult patients.

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Maternally inherited mitochondrial DNA disease in consanguineous families.

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De novo mtDNA point mutations are common and have a low recurrence risk.

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Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology.

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Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.

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Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.

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Comprehensive mitochondrial genome analysis by massively parallel sequencing.

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Mitochondrial DNA mutation analysis from exome sequencing-A more holistic approach in diagnostics of suspected mitochondrial disease.

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mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A→G mitochondrial disease.

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Novel MT-ND gene variants causing adult-onset mitochondrial disease and isolated complex I deficiency.

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Recent advances in understanding the molecular genetic basis of mitochondrial disease.

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MitoCarta3.0: an updated mitochondrial proteome now with sub-organelle localization and pathway annotations.

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Detecting expansions of tandem repeats in cohorts sequenced with short-read sequencing data.

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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

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Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests.

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Resolution of disease phenotypes resulting from multilocus genomic variation.

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Assessment of mitochondrial respiratory chain enzymes in cells and tissues.

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Decoding mitochondrial heterogeneity in single muscle fibres by imaging mass cytometry.

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Disease progression in patients with single, large-scale mitochondrial DNA deletions.

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Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

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The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A→G mutation—implications for diagnosis and management.

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The m.3243A→G mitochondrial DNA mutation and related phenotypes: a matter of gender?.

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Phenotypic heterogeneity in m.3243A→G mitochondrial disease: the role of nuclear factors.

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Six-year prospective follow-up study in 151 carriers of the mitochondrial DNA 3243 A>G variant.

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Delineating MT-ATP6-associated disease: from isolated neuropathy to early onset neurodegeneration.

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Redefining phenotypes associated with mitochondrial DNA single deletion.

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Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients.

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Clinical, genetic, and radiological features of extrapyramidal movement disorders in mitochondrial disease.

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Myoclonus in mitochondrial disorders.

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Genotypes of chronic progressive external ophthalmoplegia in a large adult-onset cohort.

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Revisiting mitochondrial ocular myopathies: a study from the Italian Network.

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A case-comparison study of pregnant women with mitochondrial disease: what to expect?.

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Pseudo-obstruction, stroke, and mitochondrial dysfunction: a lethal combination.

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Recent advances in mitochondrial aminoacyl-tRNA synthetases and disease.

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243rd ENMC international workshop: developing guidelines for management of reproductive options for families with maternally inherited mtDNA disease, Amsterdam, the Netherlands, 22–24 March 2019.

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Safety of drug use in patients with a primary mitochondrial disease: an international Delphi-based consensus.

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Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): position paper on diagnosis, prognosis, and treatment by the MNGIE International Network.

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MSeqDR: a centralized knowledge repository and bioinformatics web resource to facilitate genomic investigations in mitochondrial disease.

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International workshop: outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults—consensus recommendations, 16–18 November 2016, Rome, Italy.

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A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy.

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Real-world clinical experience with idebenone in the treatment of Leber hereditary optic neuropathy.

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Therapeutic regimen of L-arginine for MELAS: 9-year, prospective, multicenter, clinical research.

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Taurine supplementation for prevention of stroke-like episodes in MELAS: a multicentre, open-label, 52-week phase III trial.

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MT-ND5 mutation exhibits highly variable neurological manifestations at low mutant load.

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Treatable mitochondrial diseases: cofactor metabolism and beyond.

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Mitochondrial diseases: hope for the future.

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Strategies for fighting mitochondrial diseases.

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Therapeutic manipulation of mtDNA heteroplasmy: a shifting perspective.

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