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Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity.
- Published in:
- 2021
- By:
- Publication type:
- journal 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
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- 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
A Novel SUCLA2 Mutation Presenting as a Complex Childhood Movement Disorder.
- Published in:
- Journal of Child Neurology, 2017, v. 32, n. 2, p. 246, doi. 10.1177/0883073816666221
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- Publication type:
- Article
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Mutations in coenzyme Q10 biosynthetic genes.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Biochemical Studies of Patients with Cuban Epidemic Neuropathy.
- Published in:
- Ophthalmic Research, 2001, v. 33, n. 6, p. 310, doi. 10.1159/000055686
- 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
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- 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
Alteration of Nucleotide Metabolism: A New Mechanism for Mitochondrial Disorders.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2003, v. 41, n. 7, p. 845, doi. 10.1515/CCLM.2003.128
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- Publication type:
- Article
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.
- Published in:
- Nature Genetics, 1999, v. 23, n. 3, p. 333, doi. 10.1038/15513
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- 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
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- 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
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- 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
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- Publication type:
- Article
Treatment of CoQ<sub>10</sub> Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects.
- Published in:
- PLoS ONE, 2010, v. 5, n. 7, p. 1
- 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
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
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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
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- 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
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- 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
- By:
- Publication type:
- Article
Mitochondrial myopathy with dystrophic features due to a novel mutation in the MTTM gene.
- Published in:
- Muscle & Nerve, 2014, v. 50, n. 2, p. 292, doi. 10.1002/mus.24262
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- Publication type:
- Article
POLG1 Arg953Cys mutation: Expanded phenotype and recessive inheritance in a Brazilian family.
- Published in:
- Muscle & Nerve, 2012, v. 45, n. 3, p. 453, doi. 10.1002/mus.22330
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- Publication type:
- Article
MERRF and Kearns-Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation.
- Published in:
- Muscle & Nerve, 2011, v. 44, n. 3, p. 448, doi. 10.1002/mus.22149
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- Publication type:
- Article
Myopathy and parkinsonism in phosphoglycerate kinase deficiency.
- Published in:
- Muscle & Nerve, 2010, v. 41, n. 5, p. 707, doi. 10.1002/mus.21612
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- Publication type:
- Article
Clinical and genetic analysis of lipid storage myopathies.
- Published in:
- Muscle & Nerve, 2009, v. 39, n. 3, p. 333, doi. 10.1002/mus.21167
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- Publication type:
- Article
Analysis of mtDNA deletions in muscle by in situ hybridization.
- Published in:
- 2000
- 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
Measuring Fatigue and Fatigability in Spinal Muscular Atrophy (SMA): Challenges and Opportunities.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 10, p. 3458, doi. 10.3390/jcm12103458
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- Publication type:
- Article
Correction to: The evolution of the mitochondrial disease diagnostic odyssey.
- Published in:
- 2023
- By:
- Publication type:
- Correction Notice
The evolution of the mitochondrial disease diagnostic odyssey.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02754-x
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- Publication type:
- Article
Natural underlying mtDNA heteroplasmy as a potential source of intra-person hiPSC variability.
- Published in:
- EMBO Journal, 2016, v. 35, n. 18, p. 1979, doi. 10.15252/embj.201694892
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- Publication type:
- Article
Somatic nuclear mitochondrial DNA insertions are prevalent in the human brain and accumulate over time in fibroblasts.
- Published in:
- PLoS Biology, 2024, v. 22, n. 8, p. 1, doi. 10.1371/journal.pbio.3002723
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- Publication type:
- Article
Attitudes toward prevention of mtDNA-related diseases through oocyte mitochondrial replacement therapy.
- Published in:
- 2016
- By:
- Publication type:
- journal 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
Disentangling (Epi)Genetic and Environmental Contributions to the Mitochondrial 3243A>GMutation Phenotype.
- Published in:
- JAMA Neurology, 2016, v. 73, n. 8, p. 923, doi. 10.1001/jamaneurol.2016.1676
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- Publication type:
- Article
Branching Enzyme Deficiency.
- Published in:
- JAMA Neurology, 2014, v. 71, n. 1, p. 41, doi. 10.1001/jamaneurol.2013.4888
- By:
- Publication type:
- Article
Longitudinal Clinical Follow-up of a Large Family With the R357P Twinkle Mutation.
- Published in:
- JAMA Neurology, 2013, v. 70, n. 11, p. 1425, doi. 10.1001/jamaneurol.2013.3185
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- 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
- By:
- Publication type:
- Article
Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Deoxynucleoside stress exacerbates the phenotype of a mouse model of mitochondrial neurogastrointestinal encephalopathy.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 5, p. 1337, doi. 10.1093/brain/awu068
- By:
- Publication type:
- Article
Weighing in on Leber hereditary optic neuropathy: effects of mitochondrial mass.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 2, p. 308, doi. 10.1093/brain/awu005
- By:
- Publication type:
- Article
Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 5, p. 1508, doi. 10.1093/brain/awt074
- By:
- Publication type:
- Article
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 12, p. 3614, doi. 10.1093/brain/aws298
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- Publication type:
- Article
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.
- Published in:
- Brain: A Journal of Neurology, 2011, v. 134, n. 11, p. 3326, doi. 10.1093/brain/awr245
- By:
- Publication type:
- Article