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Detection of Respiratory Chain Defects in Cultivated Skin Fibroblasts and Skeletal Muscle of Patients with Parkinson's Disease.
- Published in:
- Annals of the New York Academy of Sciences, 1999, v. 893, n. 1, p. 426, doi. 10.1111/j.1749-6632.1999.tb07870.x
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- Publication type:
- Article
Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.
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- Movement Disorders, 2008, v. 23, n. 9, p. 1286, doi. 10.1002/mds.22135
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- Publication type:
- Article
Loss of the Immunomodulatory Transcription Factor BATF2 in Humans Is Associated with a Neurological Phenotype.
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- Cells (2073-4409), 2023, v. 12, n. 2, p. 227, doi. 10.3390/cells12020227
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- Publication type:
- Article
Mitochondrial dysfunction in neurological disorders with epileptic phenotypes.
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- Journal of Bioenergetics & Biomembranes, 2010, v. 42, n. 6, p. 443, doi. 10.1007/s10863-010-9314-7
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- Publication type:
- Article
Myofiber integrity depends on desmin network targeting to Z-disks and costameres via distinct plectin isoforms.
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- Journal of Cell Biology, 2008, v. 181, n. 4, p. 667, doi. 10.1083/jcb.200711058
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- Publication type:
- Article
Replication fork rescue in mammalian mitochondria.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-45244-6
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- Publication type:
- Article
Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease.
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- Human Molecular Genetics, 2014, v. 23, n. 23, p. 6147, doi. 10.1093/hmg/ddu336
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- Publication type:
- Article
On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.
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- Human Molecular Genetics, 2007, v. 16, n. 23, p. 2989, doi. 10.1093/hmg/ddm269
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- Publication type:
- Article
Mitochondrial BK Channel Openers CGS7181 and CGS7184 Exhibit Cytotoxic Properties.
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- International Journal of Molecular Sciences, 2018, v. 19, n. 2, p. 353, doi. 10.3390/ijms19020353
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- Publication type:
- Article
Metabolic Epilepsies--Commemorative Issue in Honor of Professor Uwe Heinemann.
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- International Journal of Molecular Sciences, 2017, v. 18, n. 11, p. 2499, doi. 10.3390/ijms18112499
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- Publication type:
- Article
Mitochondrial Liver Toxicity of Valproic Acid and Its Acid Derivatives Is Related to Inhibition of α-Lipoamide Dehydrogenase.
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- International Journal of Molecular Sciences, 2017, v. 18, n. 9, p. 1912, doi. 10.3390/ijms18091912
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- Publication type:
- Article
Calcium Ions Regulate K<sup>+</sup> Uptake into Brain Mitochondria: The Evidence for a Novel Potassium Channel.
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- International Journal of Molecular Sciences, 2009, v. 10, n. 3, p. 1104, doi. 10.3390/ijms10031104
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- Publication type:
- Article
Assessing the role of rare genetic variants in drug‐resistant, non‐lesional focal epilepsy.
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- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 7, p. 1376, doi. 10.1002/acn3.51374
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- Publication type:
- Article
Large Phenotypic Variation of Individuals from a Family with a Novel ASPM Mutation Associated with Microcephaly, Epilepsy, and Behavioral and Cognitive Deficits.
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- Genes, 2022, v. 13, n. 3, p. 429, doi. 10.3390/genes13030429
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- Publication type:
- Article
Novel KCNH1 Mutations Associated with Epilepsy: Broadening the Phenotypic Spectrum of KCNH1 -Associated Diseases.
- Published in:
- Genes, 2021, v. 12, n. 2, p. 132, doi. 10.3390/genes12020132
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- Publication type:
- Article
Recombination of mitochondrial DNA in skeletal muscle of individuals with multiple mitochondrial DNA heteroplasmy.
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- Nature Genetics, 2005, v. 37, n. 8, p. 873, doi. 10.1038/ng1606
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- Publication type:
- Article
Mitochondrial abnormalities in skeletal muscle of patients with sporadic amyotrophic lateral sclerosis.
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- 1999
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- Publication type:
- Abstract
Metabolic Consequences of the Cytochrome c Oxidase Deficiency in Brain of Copper-Deficient Mo<sup>vbr</sup> Mice.
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- Journal of Neurochemistry, 1999, v. 72, n. 4, p. 1580, doi. 10.1046/j.1471-4159.1999.721580.x
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- Publication type:
- Article
Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies.
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- PLoS Genetics, 2015, v. 11, n. 5, p. 1, doi. 10.1371/journal.pgen.1005226
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- Publication type:
- Article
Loss of UCP2 Attenuates Mitochondrial Dysfunction without Altering ROS Production and Uncoupling Activity.
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- PLoS Genetics, 2014, v. 10, n. 6, p. 1, doi. 10.1371/journal.pgen.1004385
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- Publication type:
- Article
N-acetyl Cysteine Treatment Rescues Cognitive Deficits Induced by Mitochondrial Dysfunction in G72/G30 Transgenic Mice.
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- Neuropsychopharmacology, 2011, v. 36, n. 11, p. 2233, doi. 10.1038/npp.2011.109
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- Publication type:
- Article
Linear mitochondrial DNA is rapidly degraded by components of the replication machinery.
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- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-04131-w
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- Publication type:
- Article
Is There Still Any Role for Oxidative Stress in Mitochondrial DNA-Dependent Aging?
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- Genes, 2018, v. 9, n. 4, p. 175, doi. 10.3390/genes9040175
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- Publication type:
- Article
Microglial CD33-Related Siglec-E Inhibits Neurotoxicity by Preventing the Phagocytosis-Associated Oxidative Burst.
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- Journal of Neuroscience, 2013, v. 33, n. 46, p. 18270, doi. 10.1523/JNEUROSCI.2211-13.2013
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- Publication type:
- Article
Transcriptome-wide Profiling of Cerebral Cavernous Malformations Patients Reveal Important Long noncoding RNA molecular signatures.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-54845-0
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- Publication type:
- Article
Mitochondrial involvement in neurodegenerative diseases.
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- IUBMB Life, 2013, v. 65, n. 3, p. 263, doi. 10.1002/iub.1126
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- Publication type:
- Article
Parkinson Phenotype in Aged PINK1-Deficient Mice Is Accompanied by Progressive Mitochondrial Dysfunction in Absence of Neurodegeneration.
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- PLoS ONE, 2009, v. 4, n. 6, p. 1, doi. 10.1371/journal.pone.0005777
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- Publication type:
- Article
Concerted action of two novel tRNA mtDNA point mutations in chronic progressive external ophthalmoplegia.
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- Bioscience Reports, 2008, v. 28, n. 2, p. 89, doi. 10.1042/BSR20080004
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- Publication type:
- Article
Role of Common Genetic Variants for Drug-Resistance to Specific Anti-Seizure Medications.
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- Frontiers in Pharmacology, 2021, v. 12, p. 1, doi. 10.3389/fphar.2021.688386
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- Publication type:
- Article
Mitochondrial dysfunction in myofibrillar myopathy.
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- Neuropathology & Applied Neurobiology, 2003, v. 29, n. 1, p. 45, doi. 10.1046/j.1365-2990.2003.00428.x
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- Publication type:
- Article
Antidiabetic sulphonylureas activate mitochondrial permeability transition in rat skeletal muscle.
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- British Journal of Pharmacology, 2005, v. 145, n. 6, p. 785, doi. 10.1038/sj.bjp.0706214
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- Publication type:
- Article
Mitochondrial potassium channels.
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- IUBMB Life, 2009, v. 61, n. 2, p. 134, doi. 10.1002/iub.155
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- Publication type:
- Article
Subfield-specific Loss of Hippocampal N-acetyl Aspartate in Temporal Lobe Epilepsy.
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- Epilepsia (Series 4), 2008, v. 49, n. 1, p. 40, doi. 10.1111/j.1528-1167.2007.01280.x
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- Publication type:
- Article
Volumetric Magnetic Resonance Imaging of Functionally Relevant Structural Alterations in Chronic Epilepsy after Pilocarpine-induced Status Epilepticus in Rats.
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- Epilepsia (Series 4), 2005, v. 46, n. 7, p. 1021, doi. 10.1111/j.1528-1167.2005.60704.x
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- Publication type:
- Article
The Mechanism of Neuroprotection by Topiramate in an Animal Model of Epilepsy.
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- Epilepsia (Series 4), 2004, v. 45, n. 12, p. 1478, doi. 10.1111/j.0013-9580.2004.13504.x
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- Publication type:
- Article
Correlation of Hippocampal Glucose Oxidation Capacity and Interictal FDG-PET in Temporal Lobe Epilepsy.
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- Epilepsia (Series 4), 2003, v. 44, n. 2, p. 193, doi. 10.1046/j.1528-1157.2003.38102.x
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- Publication type:
- Article
Secondary structure of the human mitochondrial genome affects formation of deletions.
- Published in:
- BMC Biology, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12915-023-01606-1
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- Publication type:
- Article
Molecular and Functional Effects of Loss of Cytochrome c Oxidase Subunit 8A.
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- Biochemistry (00062979), 2021, v. 86, n. 1, p. 33, doi. 10.1134/S0006297921010041
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- Publication type:
- Article
Different metabolic properties of mitochondrial oxidative phosphorylation in different cell types - important implications for mitochondrial cytopathies.
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- Experimental Physiology, 2003, v. 88, n. 1, p. 149, doi. 10.1113/eph8802512
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- Publication type:
- Article
A VASP-Rac-Soluble Guanylyl Cyclase Pathway Controls cGMP Production in Adipocytes.
- Published in:
- Science Signaling, 2012, v. 5, n. 239, p. 1, doi. 10.1126/scisignal.2002867
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- Publication type:
- Article
The Cytoprotective Action of the Potassium Channel Opener BMS-191095 in C2C12 Myoblasts is Related to the Modulation of Calcium Homeostasis.
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- Cellular Physiology & Biochemistry (Karger AG), 2010, v. 26, n. 2, p. 235, doi. 10.1159/000320523
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- Publication type:
- Article
Metabolic progression markers of neurodegeneration in the transgenic G93A-SOD1 mouse model of amyotrophic lateral sclerosis.
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- European Journal of Neuroscience, 2007, v. 25, n. 6, p. 1669, doi. 10.1111/j.1460-9568.2007.05415.x
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- Publication type:
- Article
Hippocampal N -acetyl aspartate levels do not mirror neuronal cell densities in creatine-supplemented epileptic rats.
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- European Journal of Neuroscience, 2003, v. 18, n. 8, p. 2292, doi. 10.1046/j.1460-9568.2003.02954.x
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- Publication type:
- Article
Seizure-dependent modulation of mitochondrial oxidative phosphorylation in rat hippocampus.
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- European Journal of Neuroscience, 2002, v. 15, n. 7, p. 1105, doi. 10.1046/j.1460-9568.2002.01947.x
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- Publication type:
- Article
Heart failure after pressure overload in autosomal-dominant desminopathies: Lessons from heterozygous DES-p.R349P knock-in mice.
- Published in:
- PLoS ONE, 2020, v. 15, n. 3, p. 1, doi. 10.1371/journal.pone.0228913
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- Article
Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.
- Published in:
- 2016
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- Publication type:
- journal article
Mitochondrial changes in skeletal muscle in amyotrophic lateral sclerosis and other neurogenic atrophies—a comment.
- Published in:
- Brain: A Journal of Neurology, 2005, v. 128, n. 12, p. E38, doi. 10.1093/brain/awh652
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- Publication type:
- Article
Human Epidermal Keratinocytes Accumulate Superoxide Due to Low Activity of Mn-SOD, Leading to Mitochondrial Functional Impairment.
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- Journal of Investigative Dermatology, 2007, v. 127, n. 5, p. 1084, doi. 10.1038/sj.jid.5700666
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- Publication type:
- Article
Distinct patterns of mitochondrial genome diversity in bonobos (Pan paniscus) and humans.
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- BMC Evolutionary Biology, 2010, v. 10, p. 270, doi. 10.1186/1471-2148-10-270
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- Publication type:
- Article
Genomic and clinical predictors of lacosamide response in refractory epilepsies.
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- Epilepsia Open, 2019, v. 4, n. 4, p. 563, doi. 10.1002/epi4.12360
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- Publication type:
- Article