Mitsuko Nakashima


Ontology type: schema:Person     


Person Info

NAME

Mitsuko

SURNAME

Nakashima

Publications in SciGraph latest 50 shown

  • 2019-04 A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21 in JOURNAL OF HUMAN GENETICS
  • 2019-04 Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures in JOURNAL OF HUMAN GENETICS
  • 2019-03 De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-12 Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic in JOURNAL OF HUMAN GENETICS
  • 2018-12 A recurrent homozygous NHLRC1 variant in siblings with Lafora disease in HUMAN GENOME VARIATION
  • 2018-11-23 RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy in GENETICS IN MEDICINE
  • 2018-06 A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy in JOURNAL OF HUMAN GENETICS
  • 2018-04 A homozygous NOP14 variant is likely to cause recurrent pregnancy loss in JOURNAL OF HUMAN GENETICS
  • 2018-04 Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities in JOURNAL OF HUMAN GENETICS
  • 2018-04 A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features in JOURNAL OF HUMAN GENETICS
  • 2018-04 Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations in JOURNAL OF HUMAN GENETICS
  • 2018-01 De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism in HUMAN GENETICS
  • 2017-12 Corrigendum: Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome in SCIENTIFIC REPORTS
  • 2017-12 Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement in SCIENTIFIC REPORTS
  • 2017-11 An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination in JOURNAL OF HUMAN GENETICS
  • 2017-08 ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome in JOURNAL OF HUMAN GENETICS
  • 2017-05 PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder in JOURNAL OF HUMAN GENETICS
  • 2017-05 Erratum: PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder in JOURNAL OF HUMAN GENETICS
  • 2016-09 Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay in SCIENTIFIC REPORTS
  • 2016-09 De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux in JOURNAL OF HUMAN GENETICS
  • 2016-09 Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome in SCIENTIFIC REPORTS
  • 2016-07 WDR45 mutations in three male patients with West syndrome in JOURNAL OF HUMAN GENETICS
  • 2016-06 Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations in JOURNAL OF HUMAN GENETICS
  • 2016-06 Human genetic variation database, a reference database of genetic variations in the Japanese population in JOURNAL OF HUMAN GENETICS
  • 2016-05 De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures in JOURNAL OF HUMAN GENETICS
  • 2016-05 De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia in JOURNAL OF HUMAN GENETICS
  • 2016-01 Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-01 Detection of low-prevalence somatic TSC2 mutations in sporadic pulmonary lymphangioleiomyomatosis tissues by deep sequencing in HUMAN GENETICS
  • 2015-12 Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome in HUMAN GENOME VARIATION
  • 2015-12 De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance in JOURNAL OF HUMAN GENETICS
  • 2015-12 De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing in SCIENTIFIC REPORTS
  • 2015-10 Novel compound heterozygous LIAS mutations cause glycine encephalopathy in JOURNAL OF HUMAN GENETICS
  • 2015-10 The diagnostic utility of exome sequencing in Joubert syndrome and related disorders in JOURNAL OF HUMAN GENETICS
  • 2015-05 Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation in SCIENTIFIC REPORTS
  • 2015-05 A case of autism spectrum disorder arising from a de novo missense mutation in POGZ in JOURNAL OF HUMAN GENETICS
  • 2015-04 Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an ‘exome-first’ approach in JOURNAL OF HUMAN GENETICS
  • 2015-04 SPTAN1 encephalopathy: distinct phenotypes and genotypes in JOURNAL OF HUMAN GENETICS
  • 2015-04 A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation in JOURNAL OF HUMAN GENETICS
  • 2015-02 Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy in JOURNAL OF HUMAN GENETICS
  • 2014-12 A novel PITX2 mutation causing iris hypoplasia in HUMAN GENOME VARIATION
  • 2014-12 Duplication of the NPHP1 gene in patients with autism spectrum disorder and normal intellectual ability: a case series in ANNALS OF GENERAL PSYCHIATRY
  • 2014-12 Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly in JOURNAL OF HUMAN GENETICS
  • 2014-12 The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge–Weber syndrome in JOURNAL OF HUMAN GENETICS
  • 2014-12 De novo SOX11 mutations cause Coffin–Siris syndrome in NATURE COMMUNICATIONS
  • 2014-12 Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing in JOURNAL OF HUMAN GENETICS
  • 2014-08 Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3 in NEUROGENETICS
  • 2014-08 Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss in JOURNAL OF HUMAN GENETICS
  • 2014-05 De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain in JOURNAL OF HUMAN GENETICS
  • 2014-05 Erratum to: PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy in NEUROGENETICS
  • 2014-05 PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy in NEUROGENETICS
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