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Imaging mass cytometry reveals generalised deficiency in OXPHOS complexes in Parkinson's disease.
- Published in:
- NPJ Parkinson's Disease, 2021, v. 7, n. 1, p. 1, doi. 10.1038/s41531-021-00182-x
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- Publication type:
- Article
Reply: Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion.
- Published in:
- 2016
- By:
- Publication type:
- Letter
The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi-omic pipelines.
- Published in:
- Journal of Pathology, 2021, v. 254, n. 4, p. 430, doi. 10.1002/path.5641
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- Publication type:
- Article
The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi‐omic pipelines.
- Published in:
- Journal of Pathology, 2021, v. 254, n. 3, p. 430, doi. 10.1002/path.5641
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- Publication type:
- Article
Does Variation in Mitochondrial Haplogroups Associate with Alzheimer’s Disease?
- Published in:
- 2011
- By:
- Publication type:
- Abstract
Correction: Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations.
- Published in:
- 2018
- By:
- Publication type:
- Correction Notice
Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations.
- Published in:
- PLoS Genetics, 2017, v. 13, n. 12, p. 1, doi. 10.1371/journal.pgen.1007126
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- Publication type:
- Article
Genetic variations within the OPA1 gene are not associated with neuromyelitis optica.
- Published in:
- Multiple Sclerosis Journal, 2012, v. 18, n. 2, p. 240, doi. 10.1177/1352458511416838
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- Publication type:
- Article
The contributions of mitochondrial and nuclear mitochondrial genetic variation to neuroticism.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-38480-y
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- Publication type:
- Article
Raised Intraocular Pressure as a Potential Risk Factor for Visual Loss in Leber Hereditary Optic Neuropathy
- Published in:
- PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0063446
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- Publication type:
- Article
Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2.
- Published in:
- Journal of Neurology, 2010, v. 257, n. 9, p. 1517, doi. 10.1007/s00415-010-5565-9
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- Publication type:
- Article
Feasibility and impact of haplogroup matching for mitochondrial replacement treatment.
- Published in:
- EMBO Reports, 2023, v. 24, n. 10, p. 1, doi. 10.15252/embr.202154540
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- Publication type:
- Article
Variant load of mitochondrial DNA in single human mesenchymal stem cells.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-71822-4
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- Publication type:
- Article
Nanobiopsy investigation of the subcellular mtDNA heteroplasmy in human tissues.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-64455-0
- By:
- Publication type:
- Article
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 2, p. 335, doi. 10.1093/brain/awt343
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- Publication type:
- Article
A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy.
- Published in:
- Brain: A Journal of Neurology, 2011, v. 134, n. 1, p. 171, doi. 10.1093/brain/awq294
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- Publication type:
- Article
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.
- Published in:
- Brain: A Journal of Neurology, 2009, v. 132, n. 11, p. 3165, doi. 10.1093/brain/awp221
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- Publication type:
- Article
Does mitochondrial DNA predispose to neuromyelitis optica (Devic's disease)?
- Published in:
- 2008
- By:
- Publication type:
- Letter
Does mitochondrial DNA predispose to neuromyelitis optica (Devics disease)?
- Published in:
- Brain: A Journal of Neurology, 2008, v. 131, n. 4, p. e93, doi. 10.1093/brain/awm224
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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.
- Published in:
- Brain: A Journal of Neurology, 2008, v. 131, n. 2, p. 329, doi. 10.1093/brain/awm272
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- Publication type:
- Article
The A467T and W748S POLG substitutions are a rare cause of adult-onset ataxia in Europe.
- Published in:
- 2007
- By:
- Publication type:
- Letter
Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene.
- Published in:
- Brain: A Journal of Neurology, 2006, v. 129, n. 7, p. 1674, doi. 10.1093/brain/awl088
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- Publication type:
- Article
Cell-specific expression of key mitochondrial enzymes limits OXPHOS in astrocytes of the adult human neocortex and hippocampal formation.
- Published in:
- Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-06751-z
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- Publication type:
- Article
Early-stage idiopathic Parkinson's disease is associated with reduced circular RNA expression.
- Published in:
- NPJ Parkinson's Disease, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41531-024-00636-y
- By:
- Publication type:
- Article
Parkinson's disease neurons exhibit alterations in mitochondrial quality control proteins.
- Published in:
- NPJ Parkinson's Disease, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41531-023-00564-3
- By:
- Publication type:
- Article
Mitochondrial DNA Damage and Brain Aging in Human Immunodeficiency Virus.
- Published in:
- Clinical Infectious Diseases, 2021, v. 73, n. 2, p. e466, doi. 10.1093/cid/ciaa984
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- Publication type:
- Article
Mitochondrial DNA changes in pedunculopontine cholinergic neurons in Parkinson disease.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Reduced cerebrospinal fluid mitochondrial DNA is a biomarker for early-stage Parkinson's disease.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Mitochondrial DNA and traumatic brain injury.
- Published in:
- Annals of Neurology, 2014, v. 75, n. 2, p. 186, doi. 10.1002/ana.24116
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- Publication type:
- Article
Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene.
- Published in:
- Annals of Neurology, 2009, v. 66, n. 6, p. 792, doi. 10.1002/ana.21780
- By:
- Publication type:
- Article
A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts.
- Published in:
- Human Genomics, 2019, v. 13, n. 1, p. 1, doi. 10.1186/s40246-018-0190-2
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- Publication type:
- Article
Post-mortem ventricular cerebrospinal fluid cell-free-mtDNA in neurodegenerative disease.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-72190-5
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- Publication type:
- Article
Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 5, p. 1031, doi. 10.1093/hmg/ddv626
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- Publication type:
- Article
Mitochondrial genetics.
- Published in:
- British Medical Bulletin, 2013, v. 106, n. 1, p. 135, doi. 10.1093/bmb/ldt017
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- Publication type:
- Article
GBA and APOE Impact Cognitive Decline in Parkinson's Disease: A 10‐Year Population‐Based Study.
- Published in:
- Movement Disorders, 2022, v. 37, n. 5, p. 1016, doi. 10.1002/mds.28932
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- Publication type:
- Article
Astrocytic Changes in Mitochondrial Oxidative Phosphorylation Protein Levels in Parkinson's Disease.
- Published in:
- Movement Disorders, 2022, v. 37, n. 2, p. 302, doi. 10.1002/mds.28849
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- Publication type:
- Article
The Human Coronavirus Receptor ANPEP (CD13) Is Overexpressed in Parkinson's Disease.
- Published in:
- Movement Disorders, 2020, v. 35, n. 12, p. 2134, doi. 10.1002/mds.28354
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- Publication type:
- Article
Maternal germline factors associated with aneuploid pregnancy loss: a systematic review.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 5, p. 1, doi. 10.1371/journal.pgen.1005040
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- Publication type:
- Article
Recent Mitochondrial DNA Mutations Increase the Risk of Developing Common Late-Onset Human Diseases.
- Published in:
- PLoS Genetics, 2014, v. 10, n. 5, p. 1, doi. 10.1371/journal.pgen.1004369
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- Publication type:
- Article
A subcellular cookie cutter for spatial genomics in human tissue.
- Published in:
- Analytical & Bioanalytical Chemistry, 2022, v. 414, n. 18, p. 5483, doi. 10.1007/s00216-022-03944-5
- By:
- Publication type:
- Article
Mitochondrial Haplogroup and the Risk of Acute Kidney Injury Following Cardiac Bypass Surgery.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-018-37944-2
- By:
- Publication type:
- Article
Epigenetics, epidemiology and mitochondrial DNA diseases.
- Published in:
- International Journal of Epidemiology, 2012, v. 41, n. 1, p. 177, doi. 10.1093/ije/dyr232
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- Publication type:
- Article
Mitochondrial DNA polymerase-γ and human disease.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 2, p. r244, doi. 10.1093/hmg/ddl233
- By:
- Publication type:
- Article
Mitochondrial DNA polymerase-γ and human disease.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. suppl_2, p. R244, doi. 10.1093/hmg/ddl233
- By:
- Publication type:
- Article
Heteroplasmic mitochondrial DNA variants in cardiovascular diseases.
- Published in:
- PLoS Genetics, 2022, v. 18, n. 4, p. 1, doi. 10.1371/journal.pgen.1010068
- By:
- Publication type:
- Article
metabolic profiling of Parkinson's disease and mild cognitive impairment.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Reduced mitochondrial DNA is not a biomarker of depression in Parkinson's disease.
- Published in:
- 2016
- By:
- Publication type:
- Letter
A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.
- Published in:
- Movement Disorders, 2012, v. 27, n. 6, p. 789, doi. 10.1002/mds.24980
- By:
- Publication type:
- Article