List of works - Ikuko Mizuta

A Japanese CADASIL kindred with a novel two-base NOTCH3 mutation

scientific article published on 01 May 2016

A Japanese CADASIL patient with homozygous NOTCH3 p.Arg544Cys mutation confirmed pathologically

scientific article published on 29 August 2018

A Japanese Case of CADASIL with a Rare Mutation in Exon 24 of the NOTCH3 Gene

scientific article published on 18 May 2018

A novel three-base duplication, E243dup, of GFAP identified in a patient with Alexander disease.

scientific article published on 6 July 2017

Aberrant astrocyte Ca2+ signals "AxCa signals" exacerbate pathological alterations in an alexander disease model.

scientific article published on 31 January 2018

Amyotrophic Lateral Sclerosis Model

scientific article published on 01 January 2018

CADASIL Presenting as Acute Bilateral Multiple Subcortical Infarcts without a Characteristic Temporal Pole or Any External Capsule Lesions.

scientific article published on October 2016

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Associated With a Novel In-Frame Mutation in the NOTCH3 Gene in a Japanese Patient

scientific article published on 04 November 2019

Developmental expression of NMDA receptor subunits and the emergence of glutamate neurotoxicity in primary cultures of murine cerebral cortical neurons ⬇️

scientific article published on July 1, 1998

Diagnostic criteria for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation

scientific article

Differential Expression of NeuroD in Primary Cultures of Cerebral Cortical Neurons ⬇️

scientific article published on November 1, 1997

Distinct molecular mechanisms of HTRA1 mutants in manifesting heterozygotes with CARASIL.

scientific article published on 27 April 2016

Early-onset parkinsonism in a pedigree with phosphoglycerate kinase deficiency and a heterozygous carrier: do PGK-1 mutations contribute to vulnerability to parkinsonism?

scientific article

Evaluation of NOTCH3 Pro167Ser Variation in a Japanese Family with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

scientific article published on 4 May 2016

Hereditary diffuse leukoencephalopathy with spheroids characterized by spastic hemiplegia preceding mental impairment

scientific article published on 15 June 2014

Hippo, Drosophila MST, is a novel modifier of motor neuron degeneration induced by knockdown of Caz, Drosophila FUS

scientific article published on 06 August 2018

Increasing microbleeds in CADASIL.

scientific article published on 26 April 2013

Loss-of-function mutation in Hippo suppressed enlargement of lysosomes and neurodegeneration caused by dFIG4 knockdown

scientific article

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

scientific article

Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis.

scientific article published in May 2011

New diagnostic criteria for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukocencephalopathy in Japan.

scientific article published on 8 August 2017

The CADASIL Scale-J, A Modified Scale to Prioritize Access to Genetic Testing for Japanese CADASIL-Suspected Patients

scientific article published on 04 April 2019

Transiently proliferating perivascular microglia harbor M1 type and precede cerebrovascular changes in a chronic hypertension model

scientific article published on 10 April 2019

YY1 binds to α-synuclein 3'-flanking region SNP and stimulates antisense noncoding RNA expression.

scientific article published on 12 September 2013

List of works by Ikuko Mizuta

A Japanese CADASIL kindred with a novel two-base NOTCH3 mutation

A Japanese CADASIL patient with homozygous NOTCH3 p.Arg544Cys mutation confirmed pathologically

A Japanese Case of CADASIL with a Rare Mutation in Exon 24 of the NOTCH3 Gene

A novel three-base duplication, E243dup, of GFAP identified in a patient with Alexander disease.

Aberrant astrocyte Ca2+ signals "AxCa signals" exacerbate pathological alterations in an alexander disease model.

Amyotrophic Lateral Sclerosis Model

CADASIL Presenting as Acute Bilateral Multiple Subcortical Infarcts without a Characteristic Temporal Pole or Any External Capsule Lesions.

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Associated With a Novel In-Frame Mutation in the NOTCH3 Gene in a Japanese Patient

Developmental expression of NMDA receptor subunits and the emergence of glutamate neurotoxicity in primary cultures of murine cerebral cortical neurons ⬇️

Diagnostic criteria for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation

Differential Expression of NeuroD in Primary Cultures of Cerebral Cortical Neurons ⬇️

Distinct molecular mechanisms of HTRA1 mutants in manifesting heterozygotes with CARASIL.

Early-onset parkinsonism in a pedigree with phosphoglycerate kinase deficiency and a heterozygous carrier: do PGK-1 mutations contribute to vulnerability to parkinsonism?

Evaluation of NOTCH3 Pro167Ser Variation in a Japanese Family with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

Hereditary diffuse leukoencephalopathy with spheroids characterized by spastic hemiplegia preceding mental impairment

Hippo, Drosophila MST, is a novel modifier of motor neuron degeneration induced by knockdown of Caz, Drosophila FUS

Increasing microbleeds in CADASIL.

Loss-of-function mutation in Hippo suppressed enlargement of lysosomes and neurodegeneration caused by dFIG4 knockdown

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis.

New diagnostic criteria for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukocencephalopathy in Japan.

The CADASIL Scale-J, A Modified Scale to Prioritize Access to Genetic Testing for Japanese CADASIL-Suspected Patients

Transiently proliferating perivascular microglia harbor M1 type and precede cerebrovascular changes in a chronic hypertension model

YY1 binds to α-synuclein 3'-flanking region SNP and stimulates antisense noncoding RNA expression.