Works matching AU Goto, Yu-ichi
Results: 92
COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.
- Published in:
- 2019
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- Publication type:
- journal article
Reply to: Diagnosing MELAS requires not only an mtDNA variant but also an appropriate phenotype.
- Published in:
- 2019
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- Publication type:
- Letter
Retinal dystrophy associated with a single-base deletion mutation in mitochondrial DNA 3271 in patient with MELAS syndrome.
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- Documenta Ophthalmologica, 2019, v. 138, n. 2, p. 147, doi. 10.1007/s10633-019-09673-y
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- 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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- Publication type:
- 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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- Publication type:
- 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
Haplotype structures ofEPHX1and their effects on the metabolism of carbamazepine-10,11-epoxide in Japanese epileptic patients.
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- European Journal of Clinical Pharmacology, 2005, v. 61, n. 1, p. 25, doi. 10.1007/s00228-004-0878-1
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- Article
A new phenotype of mitochondrial disease characterized by familial late-onset predominant axial myopathy and encephalopathy.
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- 2011
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- 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
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- Publication type:
- Report
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.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 22, p. 14025, doi. 10.3390/ijms232214025
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- Article
Direct Evidence for Two Distinct Forms of the Flavoprotein Subunit of Human Mitochondrial Complex II (Succinate-Ubiquinone Reductase).
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- Journal of Biochemistry, 2003, v. 134, n. 2, p. 191, doi. 10.1093/jb/mvg144
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- Publication type:
- Article
Expression of ARPP-16/19 in Rat Denervated Skeletal Muscle.
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- Journal of Biochemistry, 2003, v. 134, n. 1, p. 57, doi. 10.1093/jb/mvg113
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- Publication type:
- Article
A new congenital muscular dystrophy with mitochondrial structural abnormalities.
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- 1998
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- 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.
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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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article
Hypoalbuminemia in early onset dentatorubral−pallidoluysian atrophy due to leakage of albumin in multiple organs.
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- Journal of Neurology, 2013, v. 260, n. 5, p. 1263, doi. 10.1007/s00415-012-6787-9
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- Publication type:
- Article
Importance of CAG repeat length in childhood-onset dentatorubral-pallidoluysian atrophy.
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- Journal of Neurology, 2012, v. 259, n. 11, p. 2329, doi. 10.1007/s00415-012-6493-7
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- Article
Plasma Nervonic Acid Is a Potential Biomarker for Major Depressive Disorder: A Pilot Study.
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- International Journal of Neuropsychopharmacology, 2018, v. 21, n. 3, p. 207, doi. 10.1093/ijnp/pyx089
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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, 2007, v. 16, n. 24, p. 3037, doi. 10.1093/hmg/ddm262
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- Publication type:
- Article
Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's disease.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 1005
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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
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
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
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
Dysferlinopathy associated with rigid spine syndrome.
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- Neuropathology, 2004, v. 24, n. 4, p. 341, doi. 10.1111/j.1440-1789.2004.00573.x
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- Article
Mitochondrial encephalomyopathy.
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- 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.
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- 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
Plasma Metabolites Predict Severity of Depression and Suicidal Ideation in Psychiatric Patients-A Multicenter Pilot Analysis.
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- PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0165267
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- Publication type:
- Article
Isolated and repeated stroke-like episodes in a middle-aged man with a mitochondrial ND3 T10158C mutation: a case report.
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- 2017
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- Publication type:
- journal article
Genome-Wide Association Study Identifies HLA-DP as a Susceptibility Gene for Pediatric Asthma in Asian Populations.
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- PLoS Genetics, 2011, v. 7, n. 7, p. 1, doi. 10.1371/journal.pgen.1002170
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- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article
Interleukin-1beta (IL-1β)-induced Notch ligand Jagged1 suppresses mitogenic action of IL-1β on human dystrophic myogenic cells.
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- PLoS ONE, 2017, v. 12, n. 12, p. 1, doi. 10.1371/journal.pone.0188821
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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.
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- Stem Cells, 2016, v. 34, n. 4, p. 801, doi. 10.1002/stem.2292
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- Publication type:
- 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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- Publication type:
- Article