Lista de obras -

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

scientific journal article

Aggressive periodontitis and NOD2 variants

scientific article published on 19 May 2020

Amyotrophic lateral sclerosis of long clinical course clinically presenting with progressive muscular atrophy

scientific article published on 03 December 2018

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

artículo científico publicado en 2021

Biallelic mutation of HSD17B4 induces middle age-onset spinocerebellar ataxia

scientific article published on 16 January 2020

C-terminal mutations in SYNE1 are associated with motor neuron disease in patients with SCAR8

artículo científico publicado en 2019

Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease ⬇️

artículo científico publicado el 16 de enero de 2013

Compound heterozygote mutations in the SIGMAR1 gene in an oldest-old patient with amyotrophic lateral sclerosis

article

Convenient diagnosis of spinal and bulbar muscular atrophy using a microchip electrophoresis system ⬇️

artículo científico publicado el 8 de marzo de 2013

Cytotoxic edema in neuro-Behcet's disease ?

artículo científico publicado en 2008

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

Detection of large expansions in SCA8 using a fluorescent repeat-primed PCR assay

artículo científico publicado el 1 de septiembre de 2011

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

artículo científico publicado en 2004

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

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

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

artículo científico publicado en 2009

Mitochondrial DNA haplogroups and age at onset of Machado-Joseph disease/Spinocerebellar ataxia type 3: a study in patients from multiple populations

scientific article published on 07 December 2018

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

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

Retinitis pigmentosa prior to familial ALS caused by a homozygous cilia and flagella-associated protein 410 mutation

scientific article published on 20 August 2019

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

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

Treatment of intractable resting tremor of spinocerebellar ataxia 42 with zonisamide

artículo científico publicado en 2018

Zonisamide can ameliorate the voltage-dependence alteration of the T-type calcium channel CaV3.1 caused by a mutation responsible for spinocerebellar ataxia

scientific article published on 26 November 2020

Lista de obras de

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

Aggressive periodontitis and NOD2 variants

Amyotrophic lateral sclerosis of long clinical course clinically presenting with progressive muscular atrophy

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

Biallelic mutation of HSD17B4 induces middle age-onset spinocerebellar ataxia

C-terminal mutations in SYNE1 are associated with motor neuron disease in patients with SCAR8

Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease ⬇️

Compound heterozygote mutations in the SIGMAR1 gene in an oldest-old patient with amyotrophic lateral sclerosis

Convenient diagnosis of spinal and bulbar muscular atrophy using a microchip electrophoresis system ⬇️

Cytotoxic edema in neuro-Behcet's disease ?

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

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

Detection of large expansions in SCA8 using a fluorescent repeat-primed PCR assay

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

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

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

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

Mitochondrial DNA haplogroups and age at onset of Machado-Joseph disease/Spinocerebellar ataxia type 3: a study in patients from multiple populations

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

Mutations of optineurin in amyotrophic lateral sclerosis

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.

Retinitis pigmentosa prior to familial ALS caused by a homozygous cilia and flagella-associated protein 410 mutation

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.

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

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

Treatment of intractable resting tremor of spinocerebellar ataxia 42 with zonisamide

Zonisamide can ameliorate the voltage-dependence alteration of the T-type calcium channel CaV3.1 caused by a mutation responsible for spinocerebellar ataxia