Search Results1-20 of  34

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  • GOTO Yu-ichi ID: 1000020225668

    Articles in CiNii:38

    • ミトコンドリア12SrRNA点突然変異(1555A→G)のミトコンドリア機能に対する影響 (1996)
    • I.代謝・中毒疾患に伴う神経障害5.ミトコンドリア異常と神経障害 (1999)
    • Molecular Diagnosis of Mitochondrial Disorders (1998)
  • GOTO Yu-ichi ID: 9000000436200

    Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP) (2008 from CiNii)

    Articles in CiNii:4

    • A carrier of Duchenne muscular dystrophy with dilated cardiomyopathy but no skeletal muscle symptom (1995)
    • Dystrophin gene analysis on 130 patients with Duchenne muscular dystrophy with a special reference to muscle mRNA analysis (1998)
    • Dysferlinopathy associated with rigid spine syndrome (2004)
  • GOTO Yu-ichi ID: 9000000436212

    Department of Child Neurology,National Center Hospital for Mental,Nervous and MuscularDisorders,National Center of Neurology and Psychiatry(NCNP) (1995 from CiNii)

    Articles in CiNii:1

    • Early onset distal muscular dystrophy (1995)
  • GOTO Yu-ichi ID: 9000000436546

    Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP) (2010 from CiNii)

    Articles in CiNii:2

    • Long-term therapy with cytochrome c, flavin mononucleotide and thiamine diphosphate for a patient with Kearns-Sayre syndrome (1996)
    • Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis (2010)
  • GOTO Yu-ichi ID: 9000000923330

    Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (2000 from CiNii)

    Articles in CiNii:1

    • Mitochondrial encephalomyopathy (2000)
  • GOTO Yu-ichi ID: 9000000928978

    Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (2000 from CiNii)

    Articles in CiNii:1

    • A Patient with mitochondrial myopathy associated with isolated succinate dehydrogenase deficiency (2000)
  • GOTO Yu-ichi ID: 9000001005971

    Department of Ultrastructural Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (1995 from CiNii)

    Articles in CiNii:1

    • Progressive myoclonus epilepsy with unusual neuropathologic features (1995)
  • GOTO Yu-ichi ID: 9000001032492

    National Institute of Neuroscience, National Center for Neurology and Psychiatry (2003 from CiNii)

    Articles in CiNii:5

    • Five Novel Single Nucleotide Polymorphisms in the EPHX1 Gene Encoding Microsomal Epoxide Hydrolase (2003)
    • Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications (2000)
    • Two pathogenic point mutations exist in the authentic mitochondrial genome, not in the nuclear pseudogene (2000)
  • GOTO Yu-ichi ID: 9000001129378

    Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (2003 from CiNii)

    Articles in CiNii:1

    • Expression of ARPP-16/19 in Rat Denervated Skeletal Muscle (2003)
  • GOTO Yu-ichi ID: 9000001129515

    Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (2003 from CiNii)

    Articles in CiNii:1

    • Direct Evidence for Two Distinct Forms of the Flavoprotein Subunit of Human Mitochondrial Complex II (Succinate-Ubiquinone Reductase) (2003)
  • GOTO Yu-ichi ID: 9000001133770

    Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience (2004 from CiNii)

    Articles in CiNii:1

    • Leigh syndrome caused by mitochondrial DNA G13513A mutation : frequency and clinical features in Japan (2004)
  • GOTO Yu-ichi ID: 9000001774075

    Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (2006 from CiNii)

    Articles in CiNii:1

    • Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegia (2006)
  • GOTO Yu-ichi ID: 9000002660554

    Department of child Neurology, National Center Hospital for Mental, Mervous and Muscular Disorders,NCNP (1997 from CiNii)

    Articles in CiNii:3

    • Treatment of mitochondrial encephalomyopathy with a combination of cytochrome C and vitamins B_1 and B_2 (1997)
    • Recurrent pain attacks in a 3-year-old patient with myoclonus epilepsy associated with ragged-red fibers(MERRF):a single-photon emission computed tomographic(SPECT)and electrophysiological study (1997)
    • Functional and Morphological Abnormalities of Mitochondria in Human Cells Containing Mitochondrial DNA with Pathogenic Point Mutations in tRNA Genes (1995)
  • GOTO Yu-ichi ID: 9000014394208

    Division of Ultrastructural Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (1998 from CiNii)

    Articles in CiNii:3

    • Differences in Evoked Potential Findings Between DRPLA Patients and Patients with Cortical Reflex Myoclonus (1998)
    • D-34 Unverricht-Lundborg病が疑われる6症例の遺伝子解析 (1998)
    • E-13 歯状核赤核・淡蒼球ルイ体萎縮症(DRPLA)患者における体性感覚・聴覚脳幹誘発電位の所見 : 他の進行性ミオクローヌスてんかんとの比較 (1998)
  • GOTO Yu-ichi ID: 9000015540505

    National Institute of Neuroscience (2003 from CiNii)

    Articles in CiNii:1

    • Eleven Novel Single Nucleotide Polymorphisms in the NR1I2 (PXR) Gene, Four of which Induce Non-synonymous Amino Acid Alterations (2003)
  • GOTO Yu-ichi ID: 9000016663001

    Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (2008 from CiNii)

    Articles in CiNii:1

    • Intestinal pseudo-obstruction in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) associated with phenytoin therapy (2008)
  • GOTO Yu-ichi ID: 9000018467827

    Department of Mental Deficiency, National Institute of Neuroscience, NCNP (2010 from CiNii)

    Articles in CiNii:1

    • Abnormal glucose metabolism in aromatic L-amino acid decarboxylase deficiency (2010)
  • GOTO Yu-ichi ID: 9000019148118

    Division of Child Neurology, National Center Hospital of Neurology and Psychiatry (2012 from CiNii)

    Articles in CiNii:2

    • Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation (2012)
    • Novel deletion at Xq24 including the UBE2A gene in a patient with X-linked mental retardation (2010)
  • GOTO Yu-ichi ID: 9000107382239

    National Institute of Neuroscience, National Center of Neurology and Psychiatry (2005 from CiNii)

    Articles in CiNii:1

    • Single Nucleotide Polymorphisms and Haplotypes of CYP1A2 in a Japanese Population (2005)
  • GOTO Yu-ichi ID: 9000107387223

    Department of Mental Retardation and Birth Defect Research (2012 from CiNii)

    Articles in CiNii:1

    • Profiles of blood biomarkers in alternating hemiplegia of childhood-Increased MMP-9 and decreased substance P indicates its pathophysiology (2012)
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