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Do mitochondrial mutations cause recurrent miscarriage?
- Published in:
- Molecular Human Reproduction, 2009, v. 15, n. 5, p. 295, doi. 10.1093/molehr/gap021
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- Publication type:
- Article
Vegan diet in young children remodels metabolism and challenges the statuses of essential nutrients.
- Published in:
- EMBO Molecular Medicine, 2021, v. 13, n. 2, p. 1, doi. 10.15252/emmm.202013492
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- Publication type:
- Article
Metabolomes of mitochondrial diseases and inclusion body myositis patients: treatment targets and biomarkers.
- Published in:
- EMBO Molecular Medicine, 2018, v. 10, n. 12, p. N.PAG, doi. 10.15252/emmm.201809091
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- Publication type:
- Article
A complex genomic locus drives mtDNA replicase POLG expression to its disease‐related nervous system regions.
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- EMBO Molecular Medicine, 2018, v. 10, n. 1, p. 13, doi. 10.15252/emmm.201707993
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- Publication type:
- Article
Modified Atkins diet induces subacute selective ragged-red-fiber lysis in mitochondrial myopathy patients.
- Published in:
- EMBO Molecular Medicine, 2016, v. 8, n. 11, p. 1234, doi. 10.15252/emmm.201606592
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- Publication type:
- Article
Mitochondrial roles in disease: a box full of surprises.
- Published in:
- EMBO Molecular Medicine, 2015, v. 7, n. 10, p. 1245, doi. 10.15252/emmm.201505350
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- Publication type:
- Article
Effective treatment of mitochondrial myopathy by nicotinamide riboside, a vitamin B3.
- Published in:
- EMBO Molecular Medicine, 2014, v. 6, n. 6, p. 721, doi. 10.1002/emmm.201403943
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- Publication type:
- Article
Mouse models of mitochondrial DNA defects and their relevance for human disease.
- Published in:
- EMBO Reports, 2009, v. 10, n. 2, p. 137, doi. 10.1038/embor.2008.242
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- Publication type:
- Article
In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration.
- Published in:
- Human Genetics, 2021, v. 140, n. 11, p. 1593, doi. 10.1007/s00439-021-02279-y
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- Publication type:
- Article
Phenotypic effects of dietary stress in combination with a respiratory chain bypass in mice.
- Published in:
- Physiological Reports, 2019, v. 7, n. 13, p. N.PAG, doi. 10.14814/phy2.14159
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- Publication type:
- Article
Atrial fibrillation is poorly tolerated by patients with hypertrophic concentric cardiomyopathy caused by mitochondrial tRNA<sup>Leu (UUR)</sup> mutations.
- Published in:
- Cardiogenetics, 2013, v. 3, n. 1, p. 31, doi. 10.4081/cardiogenetics.2013.e6
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- Publication type:
- Article
Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ.
- Published in:
- Nucleic Acids Research, 2011, v. 39, n. 21, p. 9072, doi. 10.1093/nar/gkr618
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- Publication type:
- Article
Ribonucleotide reductase is not limiting for mitochondrial DNA copy number in mice.
- Published in:
- Nucleic Acids Research, 2010, v. 38, n. 22, p. 8208, doi. 10.1093/nar/gkq735
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- Publication type:
- Article
Lowered oxidative capacity in spinal muscular atrophy, Jokela type; comparison with mitochondrial muscle disease.
- Published in:
- Frontiers in Neurology, 2023, p. 01, doi. 10.3389/fneur.2023.1277944
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- Publication type:
- Article
The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1433, doi. 10.1002/ajmg.a.37596
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- Publication type:
- Article
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.
- Published in:
- Nature Genetics, 2001, v. 28, n. 3, p. 223, doi. 10.1038/90058
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- Publication type:
- Article
Liver Fat But Not Other Adiposity Measures Influence Circulating FGF21 Levels in Healthy Young Adult Twins.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 2, p. E351, doi. 10.1210/jc.2010-1326
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- Publication type:
- Article
Overexpression of TFAM or Twinkle Increases mtDNA Copy Number and Facilitates Cardioprotection Associated with Limited Mitochondrial Oxidative Stress.
- Published in:
- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0119687
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- Publication type:
- Article
The Overexpression of Twinkle Helicase Ameliorates the Progression of Cardiac Fibrosis and Heart Failure in Pressure Overload Model in Mice.
- Published in:
- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0067642
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- Publication type:
- Article
Developmental and Pathological Changes in the Human Cardiac Muscle Mitochondrial DNA Organization, Replication and Copy Number.
- Published in:
- PLoS ONE, 2010, v. 5, n. 5, p. 1, doi. 10.1371/journal.pone.0010426
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- Publication type:
- Article
LCCS: A Lethal Motoneuron Disease of the Fetus Maps to Chromosome 9 q34.
- Published in:
- Annals of the New York Academy of Sciences, 1998, v. 857, n. 1, p. 260, doi. 10.1111/j.1749-6632.1998.tb10127.x
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- Publication type:
- Article
Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation.
- Published in:
- Frontiers in Genetics, 2015, v. 6, p. 1, doi. 10.3389/fgene.2015.00021
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- Publication type:
- Article
TFPa/HADHA is required for fatty acid beta-oxidation and cardiolipin re-modeling in human cardiomyocytes.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12482-1
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- Publication type:
- Article
Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 325, doi. 10.1038/ejhg.2014.128
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- Publication type:
- Article
Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 7, p. 779, doi. 10.1038/sj.ejhg.5201831
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- Publication type:
- Article
Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 2, p. 140, doi. 10.1038/sj.ejhg.5200244
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- Publication type:
- Article
Alternative oxidase causes cell type- and tissue-specific responses in mutator mice.
- Published in:
- Life Science Alliance, 2023, v. 6, n. 11, p. 1, doi. 10.26508/lsa.202302036
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- Publication type:
- Article
Disruption of the mouse Shmt2 gene confers embryonic anaemia via foetal liver-specific metabolomic disorders.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-52372-6
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- Publication type:
- Article
Twinkle and POLG defects enhance age‐dependent accumulation of mutations in the control region of mtDNA.
- Published in:
- Nucleic Acids Research, 2004, v. 32, n. 10, p. 3053, doi. 10.1093/nar/gkh634
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- Publication type:
- Article
Mesencephalic complex I deficiency does not correlate with parkinsonism in mitochondrial DNA maintenance disorders.
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- Brain: A Journal of Neurology, 2013, v. 136, n. 8, p. 2379, doi. 10.1093/brain/awt160
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- Publication type:
- Article
Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.
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- Brain: A Journal of Neurology, 2008, v. 131, n. 11, p. 2841, doi. 10.1093/brain/awn236
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- Publication type:
- Article
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.
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- Brain: A Journal of Neurology, 2008, v. 131, n. 2, p. 329, doi. 10.1093/brain/awm272
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- Publication type:
- Article
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.
- Published in:
- Brain: A Journal of Neurology, 2007, v. 130, n. 11, p. 3032, doi. 10.1093/brain/awm242
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- Publication type:
- Article
Mitochondrial Coenzyme Q10 Determination by Isotope-Dilution Liquid Chromatography--Tandem Mass Spectrometry.
- Published in:
- Clinical Chemistry, 2013, v. 59, n. 8, p. 1260, doi. 10.1373/clinchem.2012.200196
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- Publication type:
- Article
Integrative omics approaches provide biological and clinical insights: examples from mitochondrial diseases.
- Published in:
- 2020
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- Publication type:
- journal article
Integrative omics approaches provide biological and clinical insights: examples from mitochondrial diseases.
- Published in:
- Journal of Clinical Investigation, 2020, v. 130, n. 1, p. 20, doi. 10.1172/JCI129202
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- Publication type:
- Article
Quantitative analysis of human DNA sequences by PCR and solid-phase minisequencing.
- Published in:
- Molecular Biotechnology, 2000, v. 15, n. 2, p. 123, doi. 10.1385/MB:15:2:123
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- Publication type:
- Article
Alzheimer pathology associated with POLG1 mutation, multiple mtDNA deletions, and APOE4/4: premature ageing or just coincidence?
- Published in:
- Acta Neuropathologica, 2005, v. 110, n. 3, p. 315, doi. 10.1007/s00401-005-1047-z
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- Publication type:
- Article
Using urine to diagnose large‐scale mtDNA deletions in adult patients.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 8, p. 1318, doi. 10.1002/acn3.51119
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- Publication type:
- Article
Comparison of solution-based exome capture methods for next generation sequencing.
- Published in:
- Genome Biology, 2011, v. 12, n. 9, p. 1, doi. 10.1186/gb-2011-12-9-r94
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- Publication type:
- Article
Disorders Associated with Multiple Deletions of Mitochondrial DNA.
- Published in:
- Brain Pathology, 1992, v. 2, n. 2, p. 133, doi. 10.1111/j.1750-3639.1992.tb00681.x
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- Publication type:
- Article
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
- Published in:
- Annals of Neurology, 2021, v. 89, n. 4, p. 828, doi. 10.1002/ana.26019
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- Publication type:
- Article
Frequency of MELAS main mutation in a phenotype-targeted young ischemic stroke patient population.
- Published in:
- Journal of Neurology, 2016, v. 263, n. 2, p. 257, doi. 10.1007/s00415-015-7969-z
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- Publication type:
- Article
Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 469, doi. 10.1002/jimd.12307
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- Publication type:
- Article
Biomarkers for mitochondrial respiratory chain disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 277, doi. 10.1007/s10545-010-9222-3
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- Publication type:
- Article
variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 4, p. 639, doi. 10.1093/hmg/ddy374
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- Publication type:
- Article
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 2, p. 258, doi. 10.1093/hmg/ddy294
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- Publication type:
- Article
Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 17, p. 3352, doi. 10.1093/hmg/ddx221
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- Publication type:
- Article
Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 20, p. 4521, doi. 10.1093/hmg/dds294
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- Publication type:
- Article
Effect of bezafibrate treatment on late-onset mitochondrial myopathy in mice.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 3, p. 526, doi. 10.1093/hmg/ddr482
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- Publication type:
- Article