about
A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxiaMutations of optineurin in amyotrophic lateral sclerosisIdentification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4.LRRK2 mutations and risk variants in Japanese patients with Parkinson's diseaseSCA8 repeat expansion: large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6Homozygosity mapping on homozygosity haplotype analysis to detect recessive disease-causing genes from a small number of unrelated, outbred patientsMutations in Twinkle primase-helicase cause Perrault syndrome with neurologic featuresImmunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutantExome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patientFirst report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from ChinaPossible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17.PLK1-mediated phosphorylation of WDR62/MCPH2 ensures proper mitotic spindle orientation.DYT6 in Japan-genetic screening and clinical characteristics of the patients.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.Cytotoxic edema in neuro-Behcet's disease ?Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis.Dinucleotide repeat polymorphism in interferon-gamma gene is not associated with sporadic Alzheimer's disease.Detecting gene mutations in Japanese Alzheimer's patients by semiconductor sequencing.The CNTN4 c.4256C>T mutation is rare in Japanese with inherited spinocerebellar ataxia.Compound heterozygote mutations in the SIGMAR1 gene in an oldest-old patient with amyotrophic lateral sclerosisIdentification and haplotype analysis of LRRK2 G2019S in Japanese patients with Parkinson diseaseMitochondrial DNA haplogroups and age at onset of Machado-Joseph disease/Spinocerebellar ataxia type 3: a study in patients from multiple populationsPathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian populationBiallelic mutation of HSD17B4 induces middle age-onset spinocerebellar ataxiaAmyotrophic lateral sclerosis of long clinical course clinically presenting with progressive muscular atrophyC-terminal mutations in SYNE1 are associated with motor neuron disease in patients with SCAR8Retinitis pigmentosa prior to familial ALS caused by a homozygous cilia and flagella-associated protein 410 mutationTreatment of intractable resting tremor of spinocerebellar ataxia 42 with zonisamideAggressive periodontitis and NOD2 variantsThe first Japanese case of primary familial brain calcification caused by an MYORG variant
P50
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P50
description
researcher
@en
wetenschapper
@nl
name
Hiroyuki Morino
@en
Hiroyuki Morino
@nl
type
label
Hiroyuki Morino
@en
Hiroyuki Morino
@nl
prefLabel
Hiroyuki Morino
@en
Hiroyuki Morino
@nl
P106
P31
P496
0000-0002-5190-3547