Works matching AU Goto, Yu-ichi
Results: 91
COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.
- Published in:
- 2019
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- Publication type:
- journal article
ECHS1 Mutations Cause Combined Respiratory Chain Deficiency Resulting in Leigh Syndrome.
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- Human Mutation, 2015, v. 36, n. 2, p. 232, doi. 10.1002/humu.22730
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- Article
Mitochondrial Complex III Deficiency Caused by a Homozygous UQCRC2 Mutation Presenting with Neonatal-Onset Recurrent Metabolic Decompensation.
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- Human Mutation, 2013, v. 34, n. 3, p. 446, doi. 10.1002/humu.22257
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- Article
Variable phenotypes in a family with mitochondrial encephalomyopathy harboring a 3291T > C mutation in mitochondrial DNA.
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- Neurological Sciences, 2011, v. 32, n. 5, p. 861, doi. 10.1007/s10072-011-0719-9
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- Article
Mitochondrial respiratory dysfunction disturbs neuronal and cardiac lineage commitment of human iPSCs.
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- Cell Death & Disease, 2017, v. 8, n. 1, p. e2551, doi. 10.1038/cddis.2016.484
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- Article
Methylation status of thep15andp16genes in paediatric myelodysplastic syndrome and juvenile myelomonocytic leukaemia.
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- British Journal of Haematology, 2005, v. 128, n. 6, p. 805, doi. 10.1111/j.1365-2141.2005.05392.x
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- Article
Aromaticl-amino acid decarboxylase deficiency associated with epilepsy mimicking non-epileptic involuntary movements.
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- Developmental Medicine & Child Neurology, 2008, v. 50, n. 11, p. 876, doi. 10.1111/j.1469-8749.2008.03094.x
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- Article
Isolated and repeated stroke-like episodes in a middle-aged man with a mitochondrial ND3 T10158C mutation: a case report.
- Published in:
- 2017
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- Publication type:
- journal article
Assessing the efficacy of target adaptive sampling long-read sequencing through hereditary cancer patient genomes.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00394-z
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- Article
The manner in which DNA is packaged with TFAM has an impact on transcription activation and inhibition
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- FEBS Open Bio, 2012, v. 2, p. 145, doi. 10.1016/j.fob.2012.06.001
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- Article
The manner in which DNA is packaged with TFAM has an impact on transcription activation and inhibition.
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- FEBS Open Bio, 2012, v. 2, n. 1, p. 145, doi. 10.1016/j.fob.2012.06.001
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- Article
Pyruvate Improved Insulin Secretion Status in a Mitochondrial Diabetes Mellitus Patient.
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- 2016
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- Publication type:
- journal article
Newly recognized exons induced by a splicing abnormality from an intronic mutation of the dystrophin gene resulting in Duchenne muscular dystrophy.
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- Human Mutation, 1999, v. 13, n. 2, p. 170, doi. 10.1002/(SICI)1098-1004(1999)13:2<170::AID-HUMU12>3.0.CO;2-7
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- Article
Hypoparathyroidism and insulin-dependent diabetes mellitus in a patient with Kearns-Sayre syndrome harbouring a mitochondrial DNA deletion.
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- Clinical Endocrinology, 1996, v. 45, n. 5, p. 637, doi. 10.1046/j.1365-2265.1996.00856.x
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- Article
A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.
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- Journal of Human Genetics, 2014, v. 59, n. 10, p. 581, doi. 10.1038/jhg.2014.71
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- Article
Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome.
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- Journal of Human Genetics, 2014, v. 59, n. 7, p. 405, doi. 10.1038/jhg.2014.41
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- Article
Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation.
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- Journal of Human Genetics, 2012, v. 57, n. 1, p. 73, doi. 10.1038/jhg.2011.131
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- Article
Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis.
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- Journal of Human Genetics, 2010, v. 55, n. 9, p. 590, doi. 10.1038/jhg.2010.74
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- Article
Novel deletion at Xq24 including the UBE2A gene in a patient with X-linked mental retardation.
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- 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.
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- Journal of Human Genetics, 2008, v. 53, n. 7, p. 598, doi. 10.1007/s10038-008-0289-8
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- Article
Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegia.
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- Journal of Human Genetics, 2006, v. 51, n. 6, p. 555, doi. 10.1007/s10038-006-0397-2
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- Article
Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan.
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- Journal of Human Genetics, 2004, v. 49, n. 2, p. 92, doi. 10.1007/s10038-003-0116-1
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- Article
Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy.
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- Human Molecular Genetics, 2011, v. 20, n. 19, p. 3841, doi. 10.1093/hmg/ddr305
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- Article
Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice.
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- 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.
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- Human Molecular Genetics, 2008, v. 17, n. 11, p. 1705, doi. 10.1093/hmg/ddn056
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- Article
Translation of SOX10 3′ untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain.
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- Human Molecular Genetics, 2007, v. 16, n. 24, p. 3037, doi. 10.1093/hmg/ddm262
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- Article
Neocortical Layer Formation of Human Developing Brains and Lissencephalies: Consideration of Layer-Specific Marker Expression.
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- Cerebral Cortex, 2011, v. 21, n. 3, p. 588, doi. 10.1093/cercor/bhq125
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- 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.
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- 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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- Article
The 3260 mutation in mitochondrial DNA can cause mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS).
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- 1996
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- Publication type:
- journal article
Clinical features of melas and mitochondrial DNA mutations.
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- Muscle & Nerve, 1995, v. 18, n. S14, p. S107, doi. 10.1002/mus.880181422
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- Article
'All-or-none' cytochrome C oxidase positivity in mitochondria in chronic progressive external ophthalmoplegia: An ultrastructural-cytochemical study.
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- Muscle & Nerve, 1993, v. 16, n. 2, p. 206, doi. 10.1002/mus.880160215
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- Article
An experimental model of mitochondrial myopathy: Germanium-induced myopathy and coenzyme Q<sub>10</sub> administration.
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- Muscle & Nerve, 1992, v. 15, n. 11, p. 1258, doi. 10.1002/mus.880151107
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- Article
Segmental cytochrome c-oxidase deficiency in CPEO: Teased muscle fiber analysis.
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- Muscle & Nerve, 1992, v. 15, n. 2, p. 209, doi. 10.1002/mus.880150213
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- Article
LOX-1 mediates inflammatory activation of microglial cells through the p38-MAPK/NF-κB pathways under hypoxic-ischemic conditions.
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- Cell Communication & Signaling, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12964-023-01048-w
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- Article
Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes.
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- Muscle & Nerve, 2008, v. 38, n. 3, p. 1192, doi. 10.1002/mus.21030
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- Article
Mitochondrial abnormalities in selenium-deficient myopathy.
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- 1998
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- Publication type:
- journal article
A new congenital muscular dystrophy with mitochondrial structural abnormalities.
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- 1998
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- Publication type:
- journal article
Reversible infantile respiratory chain deficiency: A clinical and molecular study.
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- Annals of Neurology, 2010, v. 68, n. 6, p. 845, doi. 10.1002/ana.22111
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- Publication type:
- Article
Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease).
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- Annals of Neurology, 2002, v. 52, n. 1, p. 122, doi. 10.1002/ana.10235
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- Publication type:
- Article
A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions.
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- Annals of Neurology, 2002, v. 51, n. 5, p. 645, doi. 10.1002/ana.10172
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- Publication type:
- Article
Identification of two novel Shank3 transcripts in the developing mouse neocortex.
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- Journal of Neurochemistry, 2014, v. 128, n. 2, p. 280, doi. 10.1111/jnc.12505
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- Article
Magnetic resonance imaging findings in Leigh syndrome with a novel compound heterozygous SURF1 gene mutation.
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- 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.
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- Neurology & Clinical Neuroscience, 2015, v. 3, n. 4, p. 153, doi. 10.1111/ncn3.173
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- Publication type:
- Article
Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00283-y
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- Publication type:
- Article
National Center Biobank Network.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00217-6
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- Article
Ten novel insertion/deletion variants in MECP2 identified in Japanese patients with Rett syndrome.
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- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0078-2
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- Article
A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome.
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- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0050-1
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- Article
Nervonic acid level in cerebrospinal fluid is a candidate biomarker for depressive and manic symptoms: A pilot study.
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- Brain & Behavior, 2021, v. 11, n. 4, p. 1, doi. 10.1002/brb3.2075
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- Article
A case of pyruvate dehydrogenase E1α subunit deficiency with antenatal brain dysgenesis demonstrated by prenatal sonography and magnetic resonance imaging.
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- 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
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- Publication type:
- journal article