Ryoko Fukai


Ontology type: schema:Person     


Person Info

NAME

Ryoko

SURNAME

Fukai

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

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