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COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy.
- Published in:
- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00283-y
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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
Increased cerebrospinal fluid fibrinogen in major depressive disorder.
- Published in:
- Scientific Reports, 2015, p. 11412, doi. 10.1038/srep11412
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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
- By:
- 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
Mitochondrial respiratory dysfunction disturbs neuronal and cardiac lineage commitment of human iPSCs.
- Published in:
- Cell Death & Disease, 2017, v. 8, n. 1, p. e2551, doi. 10.1038/cddis.2016.484
- By:
- Publication type:
- Article
Interleukin-1beta (IL-1β)-induced Notch ligand Jagged1 suppresses mitogenic action of IL-1β on human dystrophic myogenic cells.
- Published in:
- PLoS ONE, 2017, v. 12, n. 12, p. 1, doi. 10.1371/journal.pone.0188821
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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
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- Publication type:
- Article
Identification of two novel Shank3 transcripts in the developing mouse neocortex.
- Published in:
- Journal of Neurochemistry, 2014, v. 128, n. 2, p. 280, doi. 10.1111/jnc.12505
- 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
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
- By:
- 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
- By:
- 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
Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 19, p. 3841, doi. 10.1093/hmg/ddr305
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- Publication type:
- Article
Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 19, p. 3708, doi. 10.1093/hmg/ddp318
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- Publication type:
- Article
Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 11, p. 1705, doi. 10.1093/hmg/ddn056
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- Publication type:
- Article
Translation of SOX10 3′ untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 24, p. 3037, doi. 10.1093/hmg/ddm262
- By:
- 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
- By:
- Publication type:
- Article
Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy.
- Published in:
- 2019
- By:
- Publication type:
- journal 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
- By:
- Publication type:
- 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
A new phenotype of mitochondrial disease characterized by familial late-onset predominant axial myopathy and encephalopathy.
- Published in:
- 2011
- By:
- Publication type:
- Report
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
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- Publication type:
- 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
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
- By:
- Publication type:
- Article
The manner in which DNA is packaged with TFAM has an impact on transcription activation and inhibition
- Published in:
- FEBS Open Bio, 2012, v. 2, p. 145, doi. 10.1016/j.fob.2012.06.001
- By:
- Publication type:
- Article
The manner in which DNA is packaged with TFAM has an impact on transcription activation and inhibition.
- Published in:
- FEBS Open Bio, 2012, v. 2, n. 1, p. 145, doi. 10.1016/j.fob.2012.06.001
- By:
- 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
- By:
- Publication type:
- Article
The 3260 mutation in mitochondrial DNA can cause mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS).
- Published in:
- 1996
- By:
- Publication type:
- journal article
Clinical features of melas and mitochondrial DNA mutations.
- Published in:
- Muscle & Nerve, 1995, v. 18, n. S14, p. S107, doi. 10.1002/mus.880181422
- By:
- Publication type:
- Article
'All-or-none' cytochrome C oxidase positivity in mitochondria in chronic progressive external ophthalmoplegia: An ultrastructural-cytochemical study.
- Published in:
- Muscle & Nerve, 1993, v. 16, n. 2, p. 206, doi. 10.1002/mus.880160215
- By:
- Publication type:
- Article
An experimental model of mitochondrial myopathy: Germanium-induced myopathy and coenzyme Q<sub>10</sub> administration.
- Published in:
- Muscle & Nerve, 1992, v. 15, n. 11, p. 1258, doi. 10.1002/mus.880151107
- By:
- Publication type:
- Article
Segmental cytochrome c-oxidase deficiency in CPEO: Teased muscle fiber analysis.
- Published in:
- Muscle & Nerve, 1992, v. 15, n. 2, p. 209, doi. 10.1002/mus.880150213
- By:
- Publication type:
- Article
Genome-Wide Association Study Identifies HLA-DP as a Susceptibility Gene for Pediatric Asthma in Asian Populations.
- Published in:
- PLoS Genetics, 2011, v. 7, n. 7, p. 1, doi. 10.1371/journal.pgen.1002170
- By:
- Publication type:
- Article
Haplotype structures ofEPHX1and their effects on the metabolism of carbamazepine-10,11-epoxide in Japanese epileptic patients.
- Published in:
- European Journal of Clinical Pharmacology, 2005, v. 61, n. 1, p. 25, doi. 10.1007/s00228-004-0878-1
- By:
- 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
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
Expression of ARPP-16/19 in Rat Denervated Skeletal Muscle.
- Published in:
- Journal of Biochemistry, 2003, v. 134, n. 1, p. 57, doi. 10.1093/jb/mvg113
- By:
- Publication type:
- Article
Methylation status of thep15andp16genes in paediatric myelodysplastic syndrome and juvenile myelomonocytic leukaemia.
- Published in:
- British Journal of Haematology, 2005, v. 128, n. 6, p. 805, doi. 10.1111/j.1365-2141.2005.05392.x
- 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