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Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Whole-exome sequencing detects PYGM variants in two adults with McArdle disease.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006173
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- Publication type:
- Article
Advances in Thymidine Kinase 2 Deficiency: Clinical Aspects, Translational Progress, and Emerging Therapies.
- Published in:
- Journal of Neuromuscular Diseases, 2022, v. 9, n. 2, p. 225, doi. 10.3233/JND-210786
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- Publication type:
- Article
Leber's Hereditary Optic Neuropathy Mitochondrial DNA Mutations at Nucleotides 11778 and 3460 in Multiple Sclerosis.
- Published in:
- Ophthalmologica, 1999, v. 213, n. 3, p. 171, doi. 10.1159/000027414
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- Publication type:
- Article
Pituitary Adenoma Revealed by Paracentral Junctional Scotoma of Traquair.
- Published in:
- Ophthalmologica, 1997, v. 211, n. 2, p. 104, doi. 10.1159/000310771
- By:
- Publication type:
- Article
Benign cysts in the central nervous system: Neuropathological observations of the cyst walls.
- Published in:
- Neuropathology, 2004, v. 24, n. 1, p. 1, doi. 10.1111/j.1440-1789.2003.00526.x
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- Publication type:
- Article
Two cases of MT-ND5 -related mitochondrial disorder misdiagnosed as seronegative neuromyelitis optica spectrum disorder.
- Published in:
- Multiple Sclerosis Journal, 2023, v. 29, n. 7, p. 892, doi. 10.1177/13524585231172947
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- Publication type:
- Article
Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome.
- Published in:
- PLoS ONE, 2018, v. 13, n. 8, p. 1, doi. 10.1371/journal.pone.0203198
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- Publication type:
- Article
Tissue-specific oxidative stress and loss of mitochondria in CoQ-deficient Pdss2 mutant mice.
- Published in:
- FASEB Journal, 2013, v. 27, n. 2, p. 612, doi. 10.1096/fj.12-209361
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- Publication type:
- Article
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ<sub>10</sub> deficiency.
- Published in:
- FASEB Journal, 2010, v. 24, n. 10, p. 3733, doi. 10.1096/fj.09-152728
- By:
- Publication type:
- Article
Attitudes toward prevention of mtDNA-related diseases through oocyte mitochondrial replacement therapy.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Human mitochondrial DNA: roles of inherited and somatic mutations.
- Published in:
- Nature Reviews Genetics, 2012, v. 13, n. 12, p. 878, doi. 10.1038/nrg3275
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- Publication type:
- Article
Gene Therapy Using a Liver-targeted AAV Vector Restores Nucleoside and Nucleotide Homeostasis in a Murine Model of MNGIE.
- Published in:
- Molecular Therapy, 2014, v. 22, n. 5, p. 901, doi. 10.1038/mt.2014.6
- By:
- Publication type:
- Article
Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 12, p. 834, doi. 10.1038/jhg.2011.112
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- Publication type:
- Article
Fhl1 W122S causes loss of protein function and late-onset mild myopathy.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 3, p. 714, doi. 10.1093/hmg/ddu490
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- Publication type:
- Article
Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 9, p. 2459
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- Publication type:
- Article
Onset and organ specificity of Tk2 deficiency depends on Tk1 down-regulation and transcriptional compensation.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 1, p. 155, doi. 10.1093/hmg/ddq453
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- Publication type:
- Article
Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 4, p. 714, doi. 10.1093/hmg/ddn401
- By:
- Publication type:
- Article
Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 16, p. 2433, doi. 10.1093/hmg/ddn143
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- Publication type:
- Article
A functionally dominant mitochondrial DNA mutation.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 12, p. 1814, doi. 10.1093/hmg/ddn073
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- Publication type:
- Article
Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 9, p. 1091
- By:
- Publication type:
- Article
ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 1, p. 91
- By:
- Publication type:
- Article
A Diagnostic Algorithm for Metabolic Myopathies.
- Published in:
- Current Neurology & Neuroscience Reports, 2010, v. 10, n. 2, p. 118, doi. 10.1007/s11910-010-0096-4
- By:
- Publication type:
- Article
A First Step in Viral Gene Therapy for Muscular Dystrophy.
- Published in:
- Current Neurology & Neuroscience Reports, 2010, v. 10, n. 2, p. 71, doi. 10.1007/s11910-010-0090-x
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- Publication type:
- Article
Two strikes against mycophenolate mofetil therapy for myasthenia gravis.
- Published in:
- 2009
- By:
- Publication type:
- Report
Recombinant enzyme replacement therapy for infantile-onset Pompe disease.
- Published in:
- 2008
- By:
- Publication type:
- Report
Does ACE inhibitor therapy delay onset and progression of cardiac dysfunction in duchenne muscular dystrophy?
- Published in:
- Current Neurology & Neuroscience Reports, 2006, v. 6, n. 1, p. 35, doi. 10.1007/s11910-996-0007-x
- By:
- Publication type:
- Article
A sugary cocktail for McArdle disease.
- Published in:
- Current Neurology & Neuroscience Reports, 2005, v. 5, n. 1, p. 39, doi. 10.1007/s11910-005-0021-4
- By:
- Publication type:
- Article
Modafinil decreases hypersomnolence and improves mood in patients with myotonic dystrophy.
- Published in:
- Current Neurology & Neuroscience Reports, 2004, v. 4, n. 1, p. 49, doi. 10.1007/s11910-004-0011-y
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- Publication type:
- Article
A Novel Potential Therapy for Spinal Muscular Atrophy.
- Published in:
- Current Neurology & Neuroscience Reports, 2003, v. 3, n. 1, p. 56, doi. 10.1007/s11910-003-0038-5
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- Publication type:
- Article
New potential therapies for myasthenia gravis.
- Published in:
- Current Neurology & Neuroscience Reports, 2003, v. 3, n. 1, p. 55, doi. 10.1007/s11910-003-0037-6
- By:
- Publication type:
- Article
Aminoglycoside treatment for muscular dystrophy is scientifically rational, but is it clinically effective?
- Published in:
- Current Neurology & Neuroscience Reports, 2002, v. 2, n. 1, p. 53, doi. 10.1007/s11910-002-0053-y
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- Publication type:
- Article
Emerging therapies for mitochondrial diseases.
- Published in:
- Essays in Biochemistry, 2018, v. 62, n. 3, p. 467, doi. 10.1042/EBC20170114
- By:
- Publication type:
- Article
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Synergistic Deoxynucleoside and Gene Therapies for Thymidine Kinase 2 Deficiency.
- Published in:
- Annals of Neurology, 2021, v. 90, n. 4, p. 640, doi. 10.1002/ana.26185
- By:
- Publication type:
- Article
Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Intracellular calcium leak as a therapeutic target for RYR1-related myopathies.
- Published in:
- Acta Neuropathologica, 2020, v. 139, n. 6, p. 1089, doi. 10.1007/s00401-020-02150-w
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- Publication type:
- Article
A novel POLG gene mutation in a patient with SANDO.
- Published in:
- Journal of Experimental & Integrative Medicine, 2012, v. 2, n. 2, p. 181, doi. 10.5455/jeim.200312.cr.001
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- Publication type:
- Article
Clinical Presentations of Coenzyme Q<sub>10</sub> Deficiency Syndrome.
- Published in:
- Molecular Syndromology, 2014, v. 5, n. 3/4, p. 141, doi. 10.1159/000360490
- By:
- Publication type:
- Article
Pathomechanisms in Coenzyme Q<sub>10</sub>-Deficient Human Fibroblasts.
- Published in:
- Molecular Syndromology, 2014, v. 5, n. 3/4, p. 163, doi. 10.1159/000360494
- By:
- Publication type:
- Article
Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency.
- Published in:
- EMBO Molecular Medicine, 2014, v. 6, n. 8, p. 1016, doi. 10.15252/emmm.201404092
- By:
- Publication type:
- Article
Venous Tortuosity in COL4A2-Associated Gould Syndrome.
- Published in:
- Ophthalmic Surgery, Lasers & Imaging Retina, 2023, v. 54, n. 9, p. 536, doi. 10.3928/23258160-20230811-01
- By:
- Publication type:
- Article
Human Coenzyme Q<sub>10</sub> Deficiency.
- Published in:
- Neurochemical Research, 2007, v. 32, n. 4/5, p. 723, doi. 10.1007/s11064-006-9190-z
- By:
- Publication type:
- Article
Leber hereditary optic neuropathy plus dystonia, and transverse myelitis due to double mutations in MT-ND4 and MT-ND6.
- Published in:
- Journal of Neurology, 2020, v. 267, n. 3, p. 823, doi. 10.1007/s00415-019-09619-z
- By:
- Publication type:
- Article
ANO10 mutations cause ataxia and coenzyme Q deficiency.
- Published in:
- Journal of Neurology, 2014, v. 261, n. 11, p. 2192, doi. 10.1007/s00415-014-7476-7
- By:
- Publication type:
- Article
Severe Lactic Acidosis Associated with Linezolid Use in a Patient with the Mitochondrial DNA A2706G Polymorphism.
- Published in:
- Pharmacotherapy, 2007, v. 27, n. 5, p. 771, doi. 10.1592/phco.27.5.771
- By:
- Publication type:
- Article
A De Novo Mutation in MTND6 Causes Generalized Dystonia in 2 Unrelated Children.
- Published in:
- Child Neurology Open, 2016, v. 3, p. 1, doi. 10.1177/2329048X15627937
- By:
- Publication type:
- Article
Visual memory failure presages conversion to MELAS phenotype.
- Published in:
- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 6, p. 841, doi. 10.1002/acn3.51564
- By:
- Publication type:
- Article
Effects of Inhibiting CoQ<sub>10</sub> Biosynthesis with 4-nitrobenzoate in Human Fibroblasts.
- Published in:
- PLoS ONE, 2012, v. 7, n. 2, p. 1, doi. 10.1371/journal.pone.0030606
- By:
- Publication type:
- Article
Thymidine Kinase 2 Deficiency-Induced Mitochondrial DNA Depletion Causes Abnormal Development of Adipose Tissues and Adipokine Levels in Mice.
- Published in:
- PLoS ONE, 2011, v. 6, n. 12, p. 1, doi. 10.1371/journal.pone.0029691
- By:
- Publication type:
- Article