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Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 4, p. 767, doi. 10.3233/JND-240020
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- Article
Origins of tissue and cell-type specificity in mitochondrial DNA (mtDNA) disease.
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- Human Molecular Genetics, 2024, v. 33, p. R3, doi. 10.1093/hmg/ddae059
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- Article
7T MRI detects widespread brain iron deposition in neuroferritinopathy.
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- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 5, p. 1359, doi. 10.1002/acn3.52053
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- Article
Multisystem pathology in McLeod syndrome.
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- Neuropathology, 2024, v. 44, n. 2, p. 109, doi. 10.1111/neup.12935
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- Article
CHCHD10 mutations induce tissue-specific mitochondrial DNA deletions with a distinct signature.
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- Human Molecular Genetics, 2024, v. 33, n. 1, p. 91, doi. 10.1093/hmg/ddad161
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- Article
Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals.
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- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1292320
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- Article
Genes and Cognition, a recallable cohort to study Dementia/Alzheimer's disease.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.074887
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- Article
Genes and Cognition, a recallable cohort to study Dementia/Alzheimer's disease.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.074887
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- Article
Correction: Development and evaluation of rapid data-enabled access to routine clinical information to enhance early recruitment to the national clinical platform trial of COVID-19 community treatments.
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- 2023
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- Correction Notice
Correction: Development and evaluation of rapid data-enabled access to routine clinical information to enhance early recruitment to the national clinical platform trial of COVID-19 community treatments.
- Published in:
- Trials, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s13063-023-07606-4
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- Article
A role for BCL2L13 and autophagy in germline purifying selection of mtDNA.
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- PLoS Genetics, 2023, v. 18, n. 1, p. 1, doi. 10.1371/journal.pgen.1010573
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- Article
Precision mitochondrial medicine.
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- Cambridge Prisms: Precision Medicine, 2023, v. 1, p. 1, doi. 10.1017/pcm.2022.8
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- Article
Heteroplasmic mitochondrial DNA mutations in frontotemporal lobar degeneration.
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- Acta Neuropathologica, 2022, v. 143, n. 6, p. 687, doi. 10.1007/s00401-022-02423-6
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- Article
Heteroplasmic mitochondrial DNA variants in cardiovascular diseases.
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- PLoS Genetics, 2022, v. 18, n. 4, p. 1, doi. 10.1371/journal.pgen.1010068
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- Article
Development and evaluation of rapid data-enabled access to routine clinical information to enhance early recruitment to the national clinical platform trial of COVID-19 community treatments.
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- Trials, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s13063-021-05965-4
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- Publication type:
- Article
Single-molecule mitochondrial DNA sequencing shows no evidence of CpG methylation in human cells and tissues.
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- Nucleic Acids Research, 2021, v. 49, n. 22, p. 12757, doi. 10.1093/nar/gkab1179
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- Article
MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases.
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- Nucleic Acids Research, 2021, v. 49, n. 17, p. 9686, doi. 10.1093/nar/gkab726
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- Article
Cell reprogramming shapes the mitochondrial DNA landscape.
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- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-25482-x
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- Article
Oxygen tension modulates the mitochondrial genetic bottleneck and influences the segregation of a heteroplasmic mtDNA variant in vitro.
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- Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02069-2
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- Article
Editorial: Mitochondrial medicine special issue.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 289, doi. 10.1002/jimd.12374
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- Article
An international classification of inherited metabolic disorders (ICIMD).
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 164, doi. 10.1002/jimd.12348
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- Article
Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion.
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- Journal of Neurology, 2020, v. 267, n. 12, p. 3643, doi. 10.1007/s00415-020-10059-3
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- Article
Metabolic effects of bezafibrate in mitochondrial disease.
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- EMBO Molecular Medicine, 2020, v. 12, n. 3, p. 1, doi. 10.15252/emmm.201911589
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- Article
Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late‐onset disorder of mitochondrial DNA maintenance.
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- Clinical Genetics, 2020, v. 97, n. 2, p. 276, doi. 10.1111/cge.13652
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- Article
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.
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- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3766, doi. 10.1093/hmg/ddz202
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- Article
Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.
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- 2019
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- Publication type:
- journal article
Mitochondrially-targeted APOBEC1 is a potent mtDNA mutator affecting mitochondrial function and organismal fitness in Drosophila.
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- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-10857-y
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- Article
Mitochondrial Haplogroup and the Risk of Acute Kidney Injury Following Cardiac Bypass Surgery.
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- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-018-37944-2
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- Article
A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts.
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- Human Genomics, 2019, v. 13, n. 1, p. 1, doi. 10.1186/s40246-018-0190-2
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- Article
High prevalence of focal and multi-focal somatic genetic variants in the human brain.
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- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-06331-w
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- Article
Oldies but Goldies mtDNA Population Variants and Neurodegenerative Diseases.
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- Frontiers in Neuroscience, 2018, p. N.PAG, doi. 10.3389/fnins.2018.00682
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- Article
Exposure of Monocytic Cells to Lipopolysaccharide Induces Coordinated Endotoxin Tolerance, Mitochondrial Biogenesis, Mitophagy, and Antioxidant Defenses.
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- Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2018.02217
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- Article
Oxygen in mitochondrial disease: can there be too much of a good thing?
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- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 5, p. 761, doi. 10.1007/s10545-018-0210-3
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- Article
The mitochondrial DNA genetic bottleneck: inheritance and beyond.
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- Essays in Biochemistry, 2018, v. 62, n. 3, p. 225, doi. 10.1042/EBC20170096
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- Article
Mutation-specific effects in germline transmission of pathogenic mtDNA variants.
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- 2018
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- Publication type:
- journal article
Correction: Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations.
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- 2018
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- Correction Notice
Stem cell modeling of mitochondrial parkinsonism reveals key functions of OPA1.
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- 2018
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- Publication type:
- journal article
A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies.
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- Human Molecular Genetics, 2018, v. 27, n. 7, p. 1186, doi. 10.1093/hmg/ddy033
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- Article
Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family.
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- 2018
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- journal article
Mitochondrial DNA Heteroplasmy and Purifying Selection in the Mammalian Female Germ Line.
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- Development, Growth & Differentiation, 2018, v. 60, n. 1, p. 21, doi. 10.1111/dgd.12420
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- Publication type:
- Article
Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations.
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- PLoS Genetics, 2017, v. 13, n. 12, p. 1, doi. 10.1371/journal.pgen.1007126
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- Article
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.
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- 2017
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- journal article
Monitoring clinical progression with mitochondrial disease biomarkers.
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- 2017
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- journal article
Response to Simon et al.,.
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- Acta Neuropathologica Communications, 2017, v. 5, p. 1, doi. 10.1186/s40478-017-0434-8
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- Article
Mutations in mitochondrial DNA causing tubulointerstitial kidney disease.
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- PLoS Genetics, 2017, v. 13, n. 3, p. 1, doi. 10.1371/journal.pgen.1006620
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- Article
The Human Phenotype Ontology in 2017.
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- Nucleic Acids Research, 2017, v. 45, n. D1, p. D865, doi. 10.1093/nar/gkw1039
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- Article
The Effect of Neurological Genomics and Personalized Mitochondrial Medicine.
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- JAMA Neurology, 2017, v. 74, n. 1, p. 11, doi. 10.1001/jamaneurol.2016.4506
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- Article
A Woman With Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems.
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- JAMA Neurology, 2016, v. 73, n. 12, p. 1494, doi. 10.1001/jamaneurol.2016.3613
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- Article
HDBR Expression: A Unique Resource for Global and Individual Gene Expression Studies during Early Human Brain Development.
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- Frontiers in Neuroanatomy, 2016, v. 10, p. 1, doi. 10.3389/fnana.2016.00086
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- Article
A multiple sclerosis-like disorder in patients with OPA1 mutations.
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- Annals of Clinical & Translational Neurology, 2016, v. 3, n. 9, p. 723, doi. 10.1002/acn3.323
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- Article