Search Results1-20 of  20

  • Ishiura Hiroyuki ID: 9000243712910

    Articles in CiNii:1

    • Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses (2014)
  • Ishiura Hiroyuki ID: 9000326638176

    Articles in CiNii:1

    • Human genetic variation database, a reference database of genetic variations in the Japanese population (2016)
  • Ishiura Hiroyuki ID: 9000356596743

    Articles in CiNii:1

    • TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy (2017)
  • Ishiura Hiroyuki ID: 9000397958053

    Articles in CiNii:1

    • Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance (2018)
  • ISHIURA Hiroyuki ID: 9000017330523

    Articles in CiNii:7

    • A case of autosomal recessive hypomyelinating leukodystrophy without GJA12 mutation presenting a novel phenotype (2010)
    • 家族性痙性対麻痺 家族性痙性対麻痺の分子遺伝学 (特集 脊髄小脳変性症研究の最近の進歩) (2006)
    • Anti-NMDA receptor encephalitis in patients without tumor (2009)
  • ISHIURA Hiroyuki ID: 9000019188405

    Department of Neurology, University of Tokyo, Graduate School of Medicine (2010 from CiNii)

    Articles in CiNii:1

    • Multiplexed resequencing analysis to identify rare variants in pooled DNA with barcode indexing using next-generation sequencer (2010)
  • Ishiura Hiroyuki ID: 9000020388237

    Department of Neurology, Graduate School of Medicine, the University of Tokyo (2010 from CiNii)

    Articles in CiNii:1

    • A Case of Atypical Amyloid Polyneuropathy with Predominant Upper-limb Involvement with the Diagnosis Unexpectedly Found at Lung Operation (2010)
  • Ishiura Hiroyuki ID: 9000022066424

    Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan (2012 from CiNii)

    Articles in CiNii:1

    • Hypertrophic Pachymeningitis and Tracheobronchial Stenosis in IgG4-related Disease: Case Presentation and Literature Review (2012)
  • Ishiura Hiroyuki ID: 9000258058422

    Department of Neurology, Graduate School of Medicine, The University of Tokyo (2010 from CiNii)

    Articles in CiNii:1

    • A case of autosomal recessive hypomyelinating leukodystrophy without GJA12 mutation presenting a novel phenotype (2010)
  • Ishiura Hiroyuki ID: 9000258058512

    Department of Neurology, Graduate School of Medicine, The University of Tokyo (2010 from CiNii)

    Articles in CiNii:1

    • Massively parallel sequence analysis for revealing causes of neuromuscular disorders (2010)
  • Ishiura Hiroyuki ID: 9000258058546

    Department of Neurology, Graduate School of Medicine, University of Tokyo (2010 from CiNii)

    Articles in CiNii:1

    • Japan spastic paraplegia research consortium (JASPAC) (2010)
  • Ishiura Hiroyuki ID: 9000258059081

    Department of Neurology, Graduate School of Medicine, The University of Tokyo|The Japan Society for the Promotion of Science (2011 from CiNii)

    Articles in CiNii:1

    • Next-generation analysis on hereditary neurodegenerative disorders using next-generation sequencers (2011)
  • Ishiura Hiroyuki ID: 9000258060715

    Department of Neurology, The University of Tokyo (2013 from CiNii)

    Articles in CiNii:1

    • Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is caused by a mutation in TFG (2013)
  • Ishiura Hiroyuki ID: 9000283542088

    Department of Neurology, The University of Tokyo (2014 from CiNii)

    Articles in CiNii:1

    • Molecular genetics and gene analysis of hereditary spastic paraplegia (2014)
  • Ishiura Hiroyuki ID: 9000384339934

    Department of Neurology, The University of Tokyo, Japan (2018 from CiNii)

    Articles in CiNii:1

    • A Homozygous <i>LAMA2</i> Mutation of c.818G>A Caused Partial Merosin Deficiency in a Japanese Patient (2018)
  • Ishiura Hiroyuki ID: 9000399240928

    Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan (2018 from CiNii)

    Articles in CiNii:1

    • An Autopsy Case of Familial Neuronal Intranuclear Inclusion Disease with Dementia and Neuropathy (2018)
  • Ishiura Hiroyuki ID: 9000403160127

    Department of Neurology, The University of Tokyo Hospital, Japan (2019 from CiNii)

    Articles in CiNii:1

    • Atypical Familial Amyotrophic Lateral Sclerosis with Slowly Progressing Lower Extremities-predominant Late-onset Muscular Weakness and Atrophy (2019)
  • Ishiura Hiroyuki ID: 9000404529615

    Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan (2019 from CiNii)

    Articles in CiNii:1

    • Prominent Spasticity and Hyperreflexia of the Legs in a Nepalese Patient with Friedreich Ataxia (2019)
  • Ishiura Hiroyuki ID: 9000404830524

    Department of Neurology, The University of Tokyo Hospital, Japan (2019 from CiNii)

    Articles in CiNii:1

    • Spastic Paraplegia Accompanied by Extrapyramidal Sign and Frontal Cognitive Dysfunction (2019)
  • Ishiura Hiroyuki ID: 9000405671130

    Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan (2020 from CiNii)

    Articles in CiNii:1

    • A Novel <i>de novo</i><i>KIF1A</i> Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, And Spastic Paraplegia (2020)
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