Ryoko Fukai

Ontology type: schema:Person     

Person Info





Publications in SciGraph latest 50 shown

  • 2021-03-23 SGTA associates with intracellular aggregates in neurodegenerative diseases in MOLECULAR BRAIN
  • 2018-02-17 Cerebrospinal fluid level of Nogo receptor 1 antagonist lateral olfactory tract usher substance (LOTUS) correlates inversely with the extent of neuroinflammation in JOURNAL OF NEUROINFLAMMATION
  • 2018-02-05 Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations in JOURNAL OF HUMAN GENETICS
  • 2016-09-15 De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis in BMC NEUROLOGY
  • 2016-01-28 De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures in JOURNAL OF HUMAN GENETICS
  • 2016-01-14 De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia in JOURNAL OF HUMAN GENETICS
  • 2015-09-18 Panventriculomegaly with a wide foramen of Magendie and large cisterna magna: clinical, radiological, and genetic analysis in FLUIDS AND BARRIERS OF THE CNS
  • 2015-09-17 Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome in HUMAN GENOME VARIATION
  • 2015-05-13 Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-02-19 A case of autism spectrum disorder arising from a de novo missense mutation in POGZ in JOURNAL OF HUMAN GENETICS
  • 2015-01-22 Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an ‘exome-first’ approach in JOURNAL OF HUMAN GENETICS
  • 2014-08-06 Duplication of the NPHP1 gene in patients with autism spectrum disorder and normal intellectual ability: a case series in ANNALS OF GENERAL PSYCHIATRY
  • Affiliations

    JSON-LD is the canonical representation for SciGraph data.

    TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

        "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
        "affiliation": [
            "affiliation": {
              "id": "http://www.grid.ac/institutes/grid.268441.d", 
              "type": "Organization"
            "isCurrent": true, 
            "type": "OrganizationRole"
        "familyName": "Fukai", 
        "givenName": "Ryoko", 
        "id": "sg:person.0622611123.01", 
        "sameAs": [
        "sdDataset": "persons", 
        "sdDatePublished": "2021-12-01T20:42", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        "sdSource": "s3://com-springernature-scigraph/baseset/20211201/entities/gbq_results/person/person_782.jsonl", 
        "type": "Person"

    Download the RDF metadata as:  json-ld nt turtle xml License info


    JSON-LD is a popular format for linked data which is fully compatible with JSON.

    curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/person.0622611123.01'

    N-Triples is a line-based linked data format ideal for batch operations.

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/person.0622611123.01'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/person.0622611123.01'

    RDF/XML is a standard XML format for linked data.

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/person.0622611123.01'


    Preview window. Press ESC to close (or click here)