Lista de obras -

A Japanese patient with familial ALS and a p.K510M mutation in the gene for FUS (FUS) resulting in the totally locked-in state

scientific article published on 19 May 2014

A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia

scientific journal article

A necropsied case of Machado-Joseph disease with a hyperintense signal of transverse pontine fibres on long TR sequences of magnetic resonance images ⬇️

artículo científico publicado el 1 de enero de 1998

A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population.

artículo científico publicado en 2006

A single nucleotide polymorphism of dopamine transporter gene is associated with Parkinson's disease

artículo científico publicado en 2000

Activation of human SII cortex during exploratory finger movement and hand clenching tasks.

artículo científico publicado en 2005

Aggressive periodontitis and NOD2 variants

scientific article published on 19 May 2020

An autopsy case of familial amyotrophic lateral sclerosis withFUSR521G mutation

scientific article published on 28 February 2014

An autopsy report of a familial amyotrophic lateral sclerosis case carrying VCP Arg487His mutation with a unique TDP43 proteinopathy

artículo científico publicado en 2021

Analysis on the susceptibility genes in two chinese pedigrees with familial Parkinson's disease

artículo científico publicado en 2010

Aortic pulse wave velocity predicts cardiovascular mortality in middle-aged and elderly Japanese men

artículo científico publicado en 2009

Apolipoprotein E promoter polymorphism and sporadic Alzheimer's disease in a Japanese population.

artículo científico publicado en 1999

Authors' reply to Drs M van Blitterswijk, R Rademakers and LH van den Berg

artículo científico publicado en 2014

Autopsy case of later-onset pontocerebellar hypoplasia type 1: pontine atrophy and pyramidal tract involvement.

artículo científico publicado en 2010

Biallelic mutation of HSD17B4 induces middle age-onset spinocerebellar ataxia

scientific article published on 16 January 2020

Brain-derived neurotrophic factor gene polymorphisms in Japanese patients with sporadic Alzheimer's disease, Parkinson's disease, and multiple system atrophy.

artículo científico publicado en 2005

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

artículo científico publicado en 1994

CAG repeat length and disease duration in Machado-Joseph disease: a new clinical classification.

artículo científico publicado en 1997

Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease ⬇️

artículo científico publicado el 16 de enero de 2013

Cerebral white matter lesions are not associated with apoE genotype but with age and female sex in Alzheimer's disease.

artículo científico publicado en 2000

Characteristic Magnetic Resonance Imaging Findings in Machado-Joseph Disease ⬇️

artículo científico publicado el 1 de enero de 1998

Characteristic magnetic resonance imaging findings in spinocerebellar ataxia 6.

artículo científico publicado en 1998

Clinicopathologic features of autosomal recessive amyotrophic lateral sclerosis associated with optineurin mutation ⬇️

artículo científico publicado el 29 de julio de 2013

Clinicopathologic investigation of a family with expanded SCA8 CTA/CTG repeats.

artículo científico publicado en 2006

Clinicopathologic study on an ALS family with a heterozygous E478G optineurin mutation

artículo científico publicado en 2011

Coagulation and vascular abnormalities in Crow-Fukase syndrome

artículo científico publicado en 1997

Collaborative Analysis of α-Synuclein Gene Promoter Variability and Parkinson Disease

artículo científico publicado en 2006

Contribution of the interleukin-1beta gene polymorphism in multiple system atrophy

scientific article published on 01 July 2002

Cytokines and myelin antibodies in Crow-Fukase syndrome

artículo científico publicado en 1996

DYT6 in Japan-genetic screening and clinical characteristics of the patients.

artículo científico publicado en 2013

Detecting gene mutations in Japanese Alzheimer's patients by semiconductor sequencing

artículo científico publicado en 2014

Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1,286 Japanese patients

artículo científico publicado en 2002

Dinucleotide repeat polymorphism in interferon-gamma gene is not associated with sporadic Alzheimer's disease.

artículo científico publicado en 2004

Disinhibition of the somatosensory cortex in cervical dystonia-decreased amplitudes of high-frequency oscillations.

artículo científico publicado en 2004

Effect of amino acid ergot alkaloids on glutamate transport via human glutamate transporter hGluT-1

scientific article published on 01 February 1998

Effects of nerve growth factor and nicotine on the expression of nicotinic acetylcholine receptor subunits in PC12 cells

artículo científico publicado en 1999

Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia.

artículo científico publicado en 2013

Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia.

artículo científico publicado en 2013

Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient

artículo científico publicado en 2014

First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China

artículo científico publicado en 2017

Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia

artículo científico publicado en 2020

Glutathione-S-transferase-1 and interleukin-1beta gene polymorphisms in Japanese patients with Parkinson's disease.

artículo científico publicado en 2005

High frequency of open-angle glaucoma in Japanese patients with Alzheimer's disease

artículo científico publicado en 2006

Homozygosity for Machado-Joseph disease gene enhances phenotypic severity

artículo científico publicado en 1996

Homozygosity mapping on homozygosity haplotype analysis to detect recessive disease-causing genes from a small number of unrelated, outbred patients

artículo científico publicado en 2011

Identification and haplotype analysis of LRRK2 G2019S in Japanese patients with Parkinson disease

article

Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4.

artículo científico publicado en 2006

Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant

artículo científico publicado en 2014

Influence of a tumor necrosis factor gene polymorphism in Japanese patients with multiple system atrophy.

artículo científico publicado en 2005

Influence of interleukin-1beta gene polymorphism on age-at-onset of spinocerebellar ataxia 6 (SCA6) in Japanese patients

artículo científico publicado en 2001

Influence of monocyte chemoattractant protein 1 gene polymorphism on age at onset of sporadic Parkinson's disease

artículo científico publicado en 2003

Influence of polymorphisms in the genes for cytokines and glutathione S-transferase omega on sporadic Alzheimer's disease.

artículo científico publicado en 2004

Investigation on circular asymmetry of geographical distribution in cancer mortality of Hiroshima atomic bomb survivors based on risk maps: analysis of spatial survival data.

artículo científico publicado en 2012

LRRK2 mutations and risk variants in Japanese patients with Parkinson's disease

artículo científico publicado en 2009

Linear ubiquitination is involved in the pathogenesis of optineurin-associated amyotrophic lateral sclerosis.

artículo científico publicado en 2016

Localization of the gene encoding the human L-glutamate transporter (GLT-1) to 11p11.2-p13 by fluorescence in situ hybridization

artículo científico publicado en 1996

Molecular cloning and characterization of a cDNA encoding a novel basic helix-loop-helix protein structurally related to Neuro-D/BHF1.

artículo científico publicado en 1996

Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6)

scientific article published on 01 August 1997

Multiple Proteinopathies in Familial ALS Cases With Optineurin Mutations.

artículo científico publicado en 2017

Mutant protein kinase Cgamma found in spinocerebellar ataxia type 14 is susceptible to aggregation and causes cell death.

artículo científico publicado en 2005

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features

artículo científico publicado en 2014

Mutations of optineurin in amyotrophic lateral sclerosis

artículo científico publicado en 2010

Neurogenetics: The expanding horizons of diagnosis and disease pathogenesis

artículo científico publicado en 2015

Neuropathological features of Japanese familial amyotrophic lateral sclerosis with p.N352S mutation in TARDBP

artículo científico publicado en 2014

No association between apolipoprotein E alleles and olivopontocerebellar atrophy.

artículo científico publicado en 1998

Novel compound heterozygous mutations in the PARK2 gene identified in a Chinese pedigree with early-onset Parkinson's disease

artículo científico publicado en 2017

Optineurin and amyotrophic lateral sclerosis.

artículo científico

Optineurin is co-localized with FUS in basophilic inclusions of ALS with FUS mutation and in basophilic inclusion body disease

scientific article published on 17 February 2011

Optineurin suppression causes neuronal cell death via NF-κB pathway.

artículo científico publicado en 2013

Organization of the human orphan nuclear receptor Nurr1 gene.

artículo científico publicado en 1999

PLK1-mediated phosphorylation of WDR62/MCPH2 ensures proper mitotic spindle orientation

artículo científico publicado en 2017

Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?

artículo científico publicado en 2008

Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17.

artículo científico

Prediction Model of Amyotrophic Lateral Sclerosis by Deep Learning with Patient Induced Pluripotent Stem Cells

publication published on 25 February 2021

SCA8 repeat expansion: large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6

artículo científico publicado en 2003

Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population

artículo científico publicado en 2011

Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis.

artículo científico publicado en 2009

Second derivative of the finger photoplethysmogram and cardiovascular mortality in middle-aged and elderly Japanese women

artículo científico publicado en 2016

Self-organization of polarized cerebellar tissue in 3D culture of human pluripotent stem cells.

artículo científico publicado en 2015

Serum deprivation alters the expression and the splicing at exons 7, 8 and 15 of the beta-amyloid precursor protein in the C6 glioma cell line.

artículo científico publicado en 1996

Severe brain atrophy after long-term survival seen in siblings with familial amyotrophic lateral sclerosis and a mutation in the optineurin gene: a case series.

artículo científico publicado en 2011

Spinocerebellar ataxia type 6: MRI of three Japanese patients.

artículo científico publicado en 1998

Structure and organization of the gene encoding human dopamine transporter.

artículo científico publicado en 1997

The CNTN4 c.4256C>T mutation is rare in Japanese with inherited spinocerebellar ataxia.

artículo científico publicado en 2007

The first Japanese case of primary familial brain calcification caused by an MYORG variant

artículo científico publicado en 2020

Variation in the number of CAG repeats in the Machado-Joseph disease gene (MJD1) in the Japanese population.

artículo científico publicado en 1999

Voltage-gated potassium channel antibodies associated limbic encephalitis in a patient with invasive thymoma.

artículo científico publicado en 2006

Vulnerability of Purkinje Cells Generated from Spinocerebellar Ataxia Type 6 Patient-Derived iPSCs

artículo científico publicado en 2017

Vulnerability of Purkinje Cells Generated from Spinocerebellar Ataxia Type 6 Patient-Derived iPSCs.

artículo científico publicado en 2016

Lista de obras de

A Japanese patient with familial ALS and a p.K510M mutation in the gene for FUS (FUS) resulting in the totally locked-in state

A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia

A necropsied case of Machado-Joseph disease with a hyperintense signal of transverse pontine fibres on long TR sequences of magnetic resonance images ⬇️

A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population.

A single nucleotide polymorphism of dopamine transporter gene is associated with Parkinson's disease

Activation of human SII cortex during exploratory finger movement and hand clenching tasks.

Aggressive periodontitis and NOD2 variants

An autopsy case of familial amyotrophic lateral sclerosis withFUSR521G mutation

An autopsy report of a familial amyotrophic lateral sclerosis case carrying VCP Arg487His mutation with a unique TDP43 proteinopathy

Analysis on the susceptibility genes in two chinese pedigrees with familial Parkinson's disease

Aortic pulse wave velocity predicts cardiovascular mortality in middle-aged and elderly Japanese men

Apolipoprotein E promoter polymorphism and sporadic Alzheimer's disease in a Japanese population.

Authors' reply to Drs M van Blitterswijk, R Rademakers and LH van den Berg

Autopsy case of later-onset pontocerebellar hypoplasia type 1: pontine atrophy and pyramidal tract involvement.

Biallelic mutation of HSD17B4 induces middle age-onset spinocerebellar ataxia

Brain-derived neurotrophic factor gene polymorphisms in Japanese patients with sporadic Alzheimer's disease, Parkinson's disease, and multiple system atrophy.

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

CAG repeat length and disease duration in Machado-Joseph disease: a new clinical classification.

Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease ⬇️

Cerebral white matter lesions are not associated with apoE genotype but with age and female sex in Alzheimer's disease.

Characteristic Magnetic Resonance Imaging Findings in Machado-Joseph Disease ⬇️

Characteristic magnetic resonance imaging findings in spinocerebellar ataxia 6.

Clinicopathologic features of autosomal recessive amyotrophic lateral sclerosis associated with optineurin mutation ⬇️

Clinicopathologic investigation of a family with expanded SCA8 CTA/CTG repeats.

Clinicopathologic study on an ALS family with a heterozygous E478G optineurin mutation

Coagulation and vascular abnormalities in Crow-Fukase syndrome

Collaborative Analysis of α-Synuclein Gene Promoter Variability and Parkinson Disease

Contribution of the interleukin-1beta gene polymorphism in multiple system atrophy

Cytokines and myelin antibodies in Crow-Fukase syndrome

DYT6 in Japan-genetic screening and clinical characteristics of the patients.

Detecting gene mutations in Japanese Alzheimer's patients by semiconductor sequencing

Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1,286 Japanese patients

Dinucleotide repeat polymorphism in interferon-gamma gene is not associated with sporadic Alzheimer's disease.

Disinhibition of the somatosensory cortex in cervical dystonia-decreased amplitudes of high-frequency oscillations.

Effect of amino acid ergot alkaloids on glutamate transport via human glutamate transporter hGluT-1

Effects of nerve growth factor and nicotine on the expression of nicotinic acetylcholine receptor subunits in PC12 cells

Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia.

Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia.

Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient

First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China

Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia

Glutathione-S-transferase-1 and interleukin-1beta gene polymorphisms in Japanese patients with Parkinson's disease.

High frequency of open-angle glaucoma in Japanese patients with Alzheimer's disease

Homozygosity for Machado-Joseph disease gene enhances phenotypic severity

Homozygosity mapping on homozygosity haplotype analysis to detect recessive disease-causing genes from a small number of unrelated, outbred patients

Identification and haplotype analysis of LRRK2 G2019S in Japanese patients with Parkinson disease

Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4.

Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant

Influence of a tumor necrosis factor gene polymorphism in Japanese patients with multiple system atrophy.

Influence of interleukin-1beta gene polymorphism on age-at-onset of spinocerebellar ataxia 6 (SCA6) in Japanese patients

Influence of monocyte chemoattractant protein 1 gene polymorphism on age at onset of sporadic Parkinson's disease

Influence of polymorphisms in the genes for cytokines and glutathione S-transferase omega on sporadic Alzheimer's disease.

Investigation on circular asymmetry of geographical distribution in cancer mortality of Hiroshima atomic bomb survivors based on risk maps: analysis of spatial survival data.

LRRK2 mutations and risk variants in Japanese patients with Parkinson's disease

Linear ubiquitination is involved in the pathogenesis of optineurin-associated amyotrophic lateral sclerosis.

Localization of the gene encoding the human L-glutamate transporter (GLT-1) to 11p11.2-p13 by fluorescence in situ hybridization

Molecular cloning and characterization of a cDNA encoding a novel basic helix-loop-helix protein structurally related to Neuro-D/BHF1.

Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6)

Multiple Proteinopathies in Familial ALS Cases With Optineurin Mutations.

Mutant protein kinase Cgamma found in spinocerebellar ataxia type 14 is susceptible to aggregation and causes cell death.

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features

Mutations of optineurin in amyotrophic lateral sclerosis

Neurogenetics: The expanding horizons of diagnosis and disease pathogenesis

Neuropathological features of Japanese familial amyotrophic lateral sclerosis with p.N352S mutation in TARDBP

No association between apolipoprotein E alleles and olivopontocerebellar atrophy.

Novel compound heterozygous mutations in the PARK2 gene identified in a Chinese pedigree with early-onset Parkinson's disease

Optineurin and amyotrophic lateral sclerosis.

Optineurin is co-localized with FUS in basophilic inclusions of ALS with FUS mutation and in basophilic inclusion body disease

Optineurin suppression causes neuronal cell death via NF-κB pathway.

Organization of the human orphan nuclear receptor Nurr1 gene.

PLK1-mediated phosphorylation of WDR62/MCPH2 ensures proper mitotic spindle orientation

Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?

Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17.

Prediction Model of Amyotrophic Lateral Sclerosis by Deep Learning with Patient Induced Pluripotent Stem Cells

SCA8 repeat expansion: large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6

Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population

Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis.

Second derivative of the finger photoplethysmogram and cardiovascular mortality in middle-aged and elderly Japanese women

Self-organization of polarized cerebellar tissue in 3D culture of human pluripotent stem cells.