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COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Magnetic resonance imaging findings in Leigh syndrome with a novel compound heterozygous SURF1 gene mutation.
- Published in:
- Neurology & Clinical Neuroscience, 2016, v. 4, n. 1, p. 34, doi. 10.1111/ncn3.12033
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- Publication type:
- Article
Isolated mitochondrial stroke-like episodes in an elderly patient with the MT- ND3 gene mutation.
- Published in:
- Neurology & Clinical Neuroscience, 2015, v. 3, n. 4, p. 153, doi. 10.1111/ncn3.173
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- Publication type:
- Article
Plasma Nervonic Acid Is a Potential Biomarker for Major Depressive Disorder: A Pilot Study.
- Published in:
- International Journal of Neuropsychopharmacology, 2018, v. 21, n. 3, p. 207, doi. 10.1093/ijnp/pyx089
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- Publication type:
- Article
Variable phenotypes in a family with mitochondrial encephalomyopathy harboring a 3291T > C mutation in mitochondrial DNA.
- Published in:
- Neurological Sciences, 2011, v. 32, n. 5, p. 861, doi. 10.1007/s10072-011-0719-9
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- Publication type:
- Article
A case of pyruvate dehydrogenase E1α subunit deficiency with antenatal brain dysgenesis demonstrated by prenatal sonography and magnetic resonance imaging.
- Published in:
- Journal of Clinical Ultrasound, 2012, v. 40, n. 4, p. 234, doi. 10.1002/jcu.20864
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- Publication type:
- Article
Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Inter-mitochondrial complementation: Mitochondria-specific system preventing mice from expression of disease phenotypes by mutant mtDNA.
- Published in:
- Nature Medicine, 2001, v. 7, n. 8, p. 934, doi. 10.1038/90976
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- Publication type:
- Article
5-HT 1A Receptor Agonist Treatment Partially Ameliorates Rett Syndrome Phenotypes in mecp2 -Null Mice by Rescuing Impairment of Neuron Transmission and the CREB/BDNF Signaling Pathway.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 22, p. 14025, doi. 10.3390/ijms232214025
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- Publication type:
- Article
A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 10, p. 581, doi. 10.1038/jhg.2014.71
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- Publication type:
- Article
Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 7, p. 405, doi. 10.1038/jhg.2014.41
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- Publication type:
- Article
Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 1, p. 73, doi. 10.1038/jhg.2011.131
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- Publication type:
- Article
Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis.
- Published in:
- Journal of Human Genetics, 2010, v. 55, n. 9, p. 590, doi. 10.1038/jhg.2010.74
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- Publication type:
- Article
Novel deletion at Xq24 including the UBE2A gene in a patient with X-linked mental retardation.
- Published in:
- Journal of Human Genetics, 2010, v. 55, n. 4, p. 244, doi. 10.1038/jhg.2010.14
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- Publication type:
- Article
Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions.
- Published in:
- Journal of Human Genetics, 2008, v. 53, n. 7, p. 598, doi. 10.1007/s10038-008-0289-8
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- Publication type:
- Article
Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegia.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 6, p. 555, doi. 10.1007/s10038-006-0397-2
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- Publication type:
- Article
Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan.
- Published in:
- Journal of Human Genetics, 2004, v. 49, n. 2, p. 92, doi. 10.1007/s10038-003-0116-1
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- Publication type:
- Article
The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1292, doi. 10.1002/ajmg.a.35321
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- Publication type:
- Article
Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes.
- Published in:
- Nature Genetics, 2000, v. 26, n. 2, p. 176, doi. 10.1038/82826
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- Publication type:
- Article
Pyruvate Improved Insulin Secretion Status in a Mitochondrial Diabetes Mellitus Patient.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Late-onset MELAS syndrome with mtDNA 14453G→A mutation masquerading as an acute encephalitis: a case report.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Reply to: Diagnosing MELAS requires not only an mtDNA variant but also an appropriate phenotype.
- Published in:
- 2019
- By:
- Publication type:
- Letter
Retinal dystrophy associated with a single-base deletion mutation in mitochondrial DNA 3271 in patient with MELAS syndrome.
- Published in:
- Documenta Ophthalmologica, 2019, v. 138, n. 2, p. 147, doi. 10.1007/s10633-019-09673-y
- By:
- Publication type:
- Article
Nervonic acid level in cerebrospinal fluid is a candidate biomarker for depressive and manic symptoms: A pilot study.
- Published in:
- Brain & Behavior, 2021, v. 11, n. 4, p. 1, doi. 10.1002/brb3.2075
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- Publication type:
- Article
Comparison of Genomic and Epigenomic Expression in Monozygotic Twins Discordant for Rett Syndrome.
- Published in:
- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0066729
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- Publication type:
- Article
Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome.
- Published in:
- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01465-3
- By:
- Publication type:
- Article
Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes.
- Published in:
- Muscle & Nerve, 2008, v. 38, n. 3, p. 1192, doi. 10.1002/mus.21030
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- Publication type:
- Article
Mitochondrial abnormalities in selenium-deficient myopathy.
- Published in:
- 1998
- By:
- Publication type:
- journal article
A new congenital muscular dystrophy with mitochondrial structural abnormalities.
- Published in:
- 1998
- By:
- Publication type:
- journal article
Myoclonus epilepsy associated with ragged-red fibers: A G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA<sup>Lys</sup> in two families.
- Published in:
- Muscle & Nerve, 1997, v. 20, n. 3, p. 271, doi. 10.1002/(SICI)1097-4598(199703)20:3<271::AID-MUS2>3.0.CO;2-8
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- Publication type:
- Article
Aromaticl-amino acid decarboxylase deficiency associated with epilepsy mimicking non-epileptic involuntary movements.
- Published in:
- Developmental Medicine & Child Neurology, 2008, v. 50, n. 11, p. 876, doi. 10.1111/j.1469-8749.2008.03094.x
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- Publication type:
- Article
LOX-1 mediates inflammatory activation of microglial cells through the p38-MAPK/NF-κB pathways under hypoxic-ischemic conditions.
- Published in:
- Cell Communication & Signaling, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12964-023-01048-w
- By:
- Publication type:
- Article
Assessing the efficacy of target adaptive sampling long-read sequencing through hereditary cancer patient genomes.
- Published in:
- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00394-z
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- Publication type:
- Article
Hypoparathyroidism and insulin-dependent diabetes mellitus in a patient with Kearns-Sayre syndrome harbouring a mitochondrial DNA deletion.
- Published in:
- Clinical Endocrinology, 1996, v. 45, n. 5, p. 637, doi. 10.1046/j.1365-2265.1996.00856.x
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- Publication type:
- Article
Concise Review: Heteroplasmic Mitochondrial DNA Mutations and Mitochondrial Diseases: Toward iPSC-Based Disease Modeling, Drug Discovery, and Regenerative Therapeutics.
- Published in:
- Stem Cells, 2016, v. 34, n. 4, p. 801, doi. 10.1002/stem.2292
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- Publication type:
- Article
Dysferlinopathy associated with rigid spine syndrome.
- Published in:
- Neuropathology, 2004, v. 24, n. 4, p. 341, doi. 10.1111/j.1440-1789.2004.00573.x
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- Publication type:
- Article
Mitochondrial encephalomyopathy.
- Published in:
- Neuropathology, 2000, v. 20, p. S82, doi. 10.1046/j.1440-1789.2000.00304.x
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- Publication type:
- Article
Progressive myoclonus epilepsy with unusual neuropathologic features.
- Published in:
- Neuropathology, 1995, v. 15, n. 3/4, p. 127, doi. 10.1111/j.1440-1789.1995.tb00255.x
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- Publication type:
- Article
Mitochondrial fission factor Drp1 is essential for embryonic development and synapse formation in mice.
- Published in:
- Nature Cell Biology, 2009, v. 11, n. 8, p. 958, doi. 10.1038/ncb1907
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- Publication type:
- Article
Induction of Pluripotent Stem Cells from a Manifesting Carrier of Duchenne Muscular Dystrophy and Characterization of Their X-Inactivation Status.
- Published in:
- Stem Cells International, 2017, p. 1, doi. 10.1155/2017/7906843
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- Publication type:
- Article
Higd1a improves respiratory function in the models of mitochondrial disorder.
- Published in:
- FASEB Journal, 2020, v. 34, n. 1, p. 1859, doi. 10.1096/fj.201800389R
- By:
- Publication type:
- Article
AUDIOLOGICAL FEATURES AND MITOCHONDRIAL DNA SEQUENCE IN A LARGE FAMILY CARRYING MITOCHONDRIAL A1555G MUTATION WITHOUT USE OF AMINOGLYCOSIDE.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2005, v. 114, n. 2, p. 153, doi. 10.1177/000348940511400213
- By:
- Publication type:
- Article
Isolated and repeated stroke-like episodes in a middle-aged man with a mitochondrial ND3 T10158C mutation: a case report.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Aristaless-related homeobox gene disruption leads to abnormal distribution of GABAergic interneurons in human neocortex: evidence based on a case of X-linked lissencephaly with abnormal genitalia (XLAG).
- Published in:
- 2008
- By:
- Publication type:
- Report
Apoptosis is suspended in muscle of mitochondrial encephalomyopathies.
- Published in:
- Acta Neuropathologica, 2002, v. 103, n. 6, p. 531, doi. 10.1007/s00401-001-0502-8
- By:
- Publication type:
- Article
Expression of MyoD and myogenin in dystrophic mice, mdx and dy, during regeneration.
- Published in:
- Acta Neuropathologica, 2000, v. 99, n. 6, p. 619, doi. 10.1007/s004010051172
- By:
- Publication type:
- Article
Adult Leigh syndrome with mitochondrial DNA mutation at 8993.
- Published in:
- Acta Neuropathologica, 1999, v. 97, n. 4, p. 416, doi. 10.1007/s004010051007
- By:
- Publication type:
- Article
Mitochondrial encephalomyopathy showing prominent microvacuolation and necrosis of intestinal smooth muscle cells: a case diagnosed by rectal biopsy.
- Published in:
- Acta Neuropathologica, 1998, v. 96, n. 1, p. 86, doi. 10.1007/s004010050863
- By:
- Publication type:
- Article
Apoptotic nuclear degeneration in Marinesco-Sjögren syndrome.
- Published in:
- Acta Neuropathologica, 1997, v. 94, n. 5, p. 410, doi. 10.1007/s004010050727
- By:
- Publication type:
- Article
Direct Evidence for Two Distinct Forms of the Flavoprotein Subunit of Human Mitochondrial Complex II (Succinate-Ubiquinone Reductase).
- Published in:
- Journal of Biochemistry, 2003, v. 134, n. 2, p. 191, doi. 10.1093/jb/mvg144
- By:
- Publication type:
- Article