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Long Survival in Patients With Leigh Syndrome and the m.10191T>C Mutation in MT-ND3: A Case Report and Review of the Literature.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations.
- Published in:
- 2012
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- Publication type:
- journal article
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 21, doi. 10.1186/1750-1172-7-21
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- Publication type:
- Article
A Brief History of Mitochondrial Pathologies.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 22, p. 5643, doi. 10.3390/ijms20225643
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- Publication type:
- Article
Mutations in coenzyme Q10 biosynthetic genes.
- Published in:
- 2007
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- Publication type:
- journal article
Clinical and Biochemical Studies on Cytochrome Oxidase Deficienciesa.
- Published in:
- Annals of the New York Academy of Sciences, 1988, v. 550, n. 1, p. 348, doi. 10.1111/j.1749-6632.1988.tb35349.x
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- 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
Mitochondrial dysfunction as a neurobiological subtype of autism spectrum disorder: evidence from brain imaging.
- Published in:
- 2014
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- Publication type:
- journal article
Mitochondrial Dysfunction as a Neurobiological Subtype of Autism Spectrum Disorder.
- Published in:
- JAMA Psychiatry, 2014, v. 71, n. 6, p. 665, doi. 10.1001/jamapsychiatry.2014.179
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- Publication type:
- Article
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.
- Published in:
- Nature Genetics, 2013, v. 45, n. 2, p. 214, doi. 10.1038/ng.2501
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- Publication type:
- Article
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.
- Published in:
- Nature Genetics, 2006, v. 38, n. 5, p. 570, doi. 10.1038/ng1765
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- Publication type:
- Article
A Wide Range of 3243A>G/tRNALeu(UUR) (MELAS) Mutation Loads May Segregate in Offspring through the Female Germline Bottleneck.
- Published in:
- PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0096663
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- Publication type:
- Article
Genome-Wide Association Analysis Identifies a Mutation in the Thiamine Transporter 2 <i>(SLC19A3)</i> Gene Associated with Alaskan Husky Encephalopathy.
- Published in:
- PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0057195
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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
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- Publication type:
- Article
Metabolic Myoglobinuria.
- Published in:
- Current Neurology & Neuroscience Reports, 2015, v. 15, n. 10, p. 1, doi. 10.1007/s11910-015-0590-9
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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
A myopathy with unusual features caused by PNPLA2 gene mutations.
- Published in:
- Muscle & Nerve, 2015, v. 51, n. 4, p. 609, doi. 10.1002/mus.24477
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- 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
Mitochondrial abnormalities in muscle and other aging cells: Classification, causes, and effects.
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- Muscle & Nerve, 2002, v. 26, n. 5, p. 597, doi. 10.1002/mus.10194
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- Publication type:
- Article
Muscle glycogenoses.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Analysis of mtDNA deletions in muscle by in situ hybridization.
- Published in:
- 2000
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- Publication type:
- journal article
A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact.
- Published in:
- 1999
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- Publication type:
- journal article
Study of mitochondrial DNA depletion in muscle by single-fiber polymerase chain reaction.
- Published in:
- 1998
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- Publication type:
- journal article
Biochemical and genetic studies in a family with mitochondrial myopathy.
- Published in:
- 1997
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- Publication type:
- journal article
The adult form of acid maltase (α-1,4-glucosidase) deficiency.
- Published in:
- Annals of Neurology, 1977, v. 1, n. 3, p. 276, doi. 10.1002/ana.410010314
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- Publication type:
- Article
Current classification of mitochondrial disorders.
- Published in:
- Journal of Neurology, 2003, v. 250, n. 12, p. 1403, doi. 10.1007/s00415-003-0281-3
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- Publication type:
- Article
Mitochondrial Encephalomyopathies.
- Published in:
- Annals of the New York Academy of Sciences, 2004, v. 1011, n. 1, p. 232, doi. 10.1196/annals.1293.023
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- Publication type:
- Article
Mitochondrial Encephalomyopathies.
- Published in:
- Annals of the New York Academy of Sciences, 2004, v. 1011, n. 1, p. 217, doi. 10.1196/annals.1293.022
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- Publication type:
- Article
Hepatocerebral mitochondrial DNA depletion syndrome: clinical and morphologic features of a nuclear gene mutation.
- Published in:
- 2004
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- 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
THE GENETICS AND PATHOLOGY OF OXIDATIVE PHOSPHORYLATION.
- Published in:
- Nature Reviews Genetics, 2001, v. 2, n. 5, p. 342, doi. 10.1038/35072063
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- Publication type:
- Article
Mitochondrial DNA and Diseases of the Nervous System: The Spectrum.
- Published in:
- Neuroscientist, 1998, v. 4, n. 1, p. 53, doi. 10.1177/107385849800400113
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- Publication type:
- Article
Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders.
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- European Journal of Human Genetics, 2007, v. 15, n. 7, p. 779, doi. 10.1038/sj.ejhg.5201831
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- Publication type:
- Article
Attitudes toward prevention of mtDNA-related diseases through oocyte mitochondrial replacement therapy.
- Published in:
- 2016
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- Publication type:
- journal article
Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.
- Published in:
- JAMA Neurology, 2015, v. 72, n. 6, p. 666, doi. 10.1001/jamaneurol.2015.0178
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- Publication type:
- Article
Deep Intronic GBE1 Mutation in Manifesting Heterozygous Patients With Adult Polyglucosan Body Disease.
- Published in:
- JAMA Neurology, 2015, v. 72, n. 4, p. 441, doi. 10.1001/jamaneurol.2014.4496
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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
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- Publication type:
- Article
Mitochondrial DNA Mutation Load Chance or Destiny?
- Published in:
- JAMA Neurology, 2013, v. 70, n. 12, p. 1484, doi. 10.1001/jamaneurol.2013.4401
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- 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
Mitochondrial Encephalomyopathy Due to a Novel Mutation in ACAD9.
- Published in:
- JAMA Neurology, 2013, v. 70, n. 9, p. 1177, doi. 10.1001/jamaneurol.2013.3197
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- Publication type:
- Article
Adult polyglucosan body disease with GBE1 haploinsufficiency and concomitant frontotemporal lobar degeneration.
- Published in:
- Neuropathology & Applied Neurobiology, 2014, v. 40, n. 6, p. 778, doi. 10.1111/nan.12144
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- Publication type:
- Article
Early Onset of Diabetes Mellitus Associated with the Mitochondrial DNA T14709C Point Mutation: Patient Report and Literature Review.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 1999, v. 12, n. 2, p. 207, doi. 10.1515/jpem.1999.12.2.207
- 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
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 11, p. 3404, doi. 10.1093/brain/aws258
- By:
- Publication type:
- Article
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.
- Published in:
- Brain: A Journal of Neurology, 2007, v. 130, n. 8, p. 2037, doi. 10.1093/brain/awm054
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- Publication type:
- Article
A polymorphic polymerase.
- Published in:
- Brain: A Journal of Neurology, 2006, v. 129, n. 7, p. 1637, doi. 10.1093/brain/awl169
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- Publication type:
- Article
The spectrum of exercise tolerance in mitochondrial myopathies: a study of 40 patients.
- Published in:
- Brain: A Journal of Neurology, 2003, v. 126, n. 2, p. 413, doi. 10.1093/brain/awg028
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- Publication type:
- Article