Chihiro Ohba


Ontology type: schema:Person     


Person Info

NAME

Chihiro

SURNAME

Ohba

Publications in SciGraph latest 50 shown

  • 2021-04-08 ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice in NATURE COMMUNICATIONS
  • 2019-06-07 Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy in NATURE COMMUNICATIONS
  • 2018-01-16 Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy in JOURNAL OF HUMAN GENETICS
  • 2017-02-02 A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome in JOURNAL OF HUMAN GENETICS
  • 2016-07-20 Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay in SCIENTIFIC REPORTS
  • 2016-02-18 Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations in JOURNAL OF HUMAN GENETICS
  • 2015-10-19 De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing in SCIENTIFIC REPORTS
  • 2015-09-10 De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance in JOURNAL OF HUMAN GENETICS
  • 2015-05-28 Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita in JOURNAL OF HUMAN GENETICS
  • 2015-03-21 Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene in JOURNAL OF NEUROLOGY
  • 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
  • 2014-03-19 Erratum to: PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy in NEUROGENETICS
  • 2014-03-13 De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain in JOURNAL OF HUMAN GENETICS
  • 2013-11-20 PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy in NEUROGENETICS
  • 2013-10-04 Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood in NEUROGENETICS
  • 2012-08-30 Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity in JOURNAL OF HUMAN GENETICS
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