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Gait impairment precedes clinical symptoms in spinocerebellar ataxia type 6.
- Published in:
- Movement Disorders, 2014, v. 29, n. 2, p. 252, doi. 10.1002/mds.25706
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- Publication type:
- Article
Early neuropsychiatry features in neuroferritinopathy.
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- Movement Disorders, 2013, v. 28, n. 9, p. 1310, doi. 10.1002/mds.25371
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- Publication type:
- Article
Systematic Review and UK-Based Study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.
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- Movement Disorders, 2012, v. 27, n. 12, p. 1522, doi. 10.1002/mds.25132
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- Publication type:
- Article
Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome.
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- Movement Disorders, 2012, v. 27, n. 2, p. 312, doi. 10.1002/mds.24029
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- Publication type:
- Article
Dramatic response of facial stereotype/tic to tetrabenazine in the first reported cases of neuroferritinopathy in the United States.
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- Movement Disorders, 2010, v. 25, n. 14, p. 2470, doi. 10.1002/mds.23299
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- Publication type:
- Article
No association between common POLG1 variants and sporadic idiopathic Parkinson's disease.
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- Movement Disorders, 2009, v. 24, n. 7, p. 1092, doi. 10.1002/mds.22310
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- Publication type:
- Article
Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia.
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- Movement Disorders, 2007, v. 22, n. 14, p. 2104, doi. 10.1002/mds.21692
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- Publication type:
- Article
Spectrum of movement disorders in neuroferritinopathy.
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- Movement Disorders, 2005, v. 20, n. 1, p. 95, doi. 10.1002/mds.20284
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- Publication type:
- Article
Late-onset axial jerky dystonia due to the DYT1 deletion.
- Published in:
- 2002
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- Publication type:
- journal article
The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease.
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- Nature Reviews Genetics, 2015, v. 16, n. 9, p. 530, doi. 10.1038/nrg3966
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- Publication type:
- Article
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
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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- Publication type:
- Article
Fall in circulating mononuclear cell mitochondrial DNA content in human sepsis.
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- Intensive Care Medicine, 2010, v. 36, n. 6, p. 956, doi. 10.1007/s00134-010-1823-7
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- Publication type:
- Article
Defining the importance of mitochondrial gene defects in maternally inherited diabetes by sequencing the entire mitochondrial genome.
- Published in:
- 2002
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- Publication type:
- journal article
Mitochondrial Diabetes.
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- Diabetes, 1998, v. 47, n. 11, p. 1800
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- Publication type:
- Article
Glucocerebrosidase Mutations alter the endoplasmic reticulum and lysosomes in Lewy body disease.
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- Journal of Neurochemistry, 2012, v. 123, n. 2, p. 298, doi. 10.1111/j.1471-4159.2012.07879.x
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- Publication type:
- Article
Mutation-specific effects in germline transmission of pathogenic mtDNA variants.
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- 2018
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- Publication type:
- journal article
Preventing the transmission of pathogenic mitochondrial DNA mutations: can we achieve long-term benefits from germ-line gene transfer?
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- Human Reproduction, 2013, v. 28, n. 3, p. 554, doi. 10.1093/humrep/des439
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- Publication type:
- 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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- Publication type:
- Article
Genetic variations within the OPA1 gene are not associated with neuromyelitis optica.
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- Multiple Sclerosis Journal, 2012, v. 18, n. 2, p. 240, doi. 10.1177/1352458511416838
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- Publication type:
- Article
Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency.
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- Human Molecular Genetics, 2013, v. 22, n. 22, p. 4602, doi. 10.1093/hmg/ddt309
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- Publication type:
- Article
Universal heteroplasmy of human mitochondrial DNA.
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- Human Molecular Genetics, 2013, v. 22, n. 2, p. 384, doi. 10.1093/hmg/dds435
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- Publication type:
- Article
OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules.
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- Human Molecular Genetics, 2010, v. 19, n. 15, p. 3043, doi. 10.1093/hmg/ddq209
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- Publication type:
- Article
In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes.
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- Human Molecular Genetics, 2009, v. 18, n. 9, p. 1590, doi. 10.1093/hmg/ddp074
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- Publication type:
- Article
Mitochondrial DNA polymerase-γ and human disease.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. r244, doi. 10.1093/hmg/ddl233
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- Publication type:
- Article
Mitochondrial DNA polymerase-γ and human disease.
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- Human Molecular Genetics, 2006, v. 15, n. suppl_2, p. R244, doi. 10.1093/hmg/ddl233
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- Publication type:
- Article
Use of stereotypical mutational motifs to define resolution limits for the ultra-deep resequencing of mitochondrial DNA.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 413, doi. 10.1038/ejhg.2014.96
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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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- Publication type:
- 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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- Publication type:
- journal article
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.
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- 2017
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- Publication type:
- journal article
Monitoring clinical progression with mitochondrial disease biomarkers.
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- 2017
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- Publication type:
- journal article
HIV Treatment and Associated Mitochondrial Pathology: Review of 25 Years of in Vitro, Animal, and Human Studies.
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- Toxicologic Pathology, 2014, v. 42, n. 5, p. 811, doi. 10.1177/0192623313503519
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- Publication type:
- 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
Stem cell modeling of mitochondrial parkinsonism reveals key functions of OPA1.
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- 2018
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- Publication type:
- journal article
Reduced cerebrospinal fluid mitochondrial DNA is a biomarker for early-stage Parkinson's disease.
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- 2015
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- Publication type:
- journal article
Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.
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- Annals of Neurology, 2015, v. 77, n. 5, p. 753, doi. 10.1002/ana.24362
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- Publication type:
- Article
Increased yield of exome sequencing by off-target mitochondrial DNA analysis.
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- Annals of Neurology, 2015, v. 77, n. 3, p. 553, doi. 10.1002/ana.24360
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- Publication type:
- Article
Molecular pathogenesis of polymerase γ-related neurodegeneration.
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- 2014
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- Publication type:
- journal article
Molecular pathogenesis of polymerase gamma-related neurodegeneration.
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- Annals of Neurology, 2014, v. 76, n. 1, p. 66, doi. 10.1002/ana.24185
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- Publication type:
- Article
Mitochondrial DNA and traumatic brain injury.
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- Annals of Neurology, 2014, v. 75, n. 2, p. 186, doi. 10.1002/ana.24116
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- Publication type:
- Article
Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1.
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- Annals of Neurology, 2013, v. 73, n. 4, p. 500, doi. 10.1002/ana.23831
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- Article
Childhood presentation of "adult" polyglucosan body disease: normal GBE1 sequence with no glycogen branching enzyme activity.
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- 2013
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- Publication type:
- letter
Childhood presentation of 'adult' polyglucosan body disease Childhood presentation of 'Adult' polyglucosan body disease: Normal GBE1 sequence with no glycogen branching enzyme activity.
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- Annals of Neurology, 2013, v. 73, n. 2, p. 317, doi. 10.1002/ana.23854
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- Publication type:
- 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
Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease.
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- Nature, 2010, v. 465, n. 7294, p. 82, doi. 10.1038/nature08958
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- Publication type:
- 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
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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- Publication type:
- Article
Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation.
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- Frontiers in Genetics, 2015, v. 6, p. 1, doi. 10.3389/fgene.2015.00021
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- Publication type:
- Article
Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers†.
- Published in:
- 2013
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- Publication type:
- Journal Article
Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers†.
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- European Heart Journal - Cardiovascular Imaging, 2013, v. 14, n. 7, p. 650, doi. 10.1093/ehjci/jes226
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- Publication type:
- Article