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Zonisamide can ameliorate the voltage-dependence alteration of the T-type calcium channel Ca<sub>V</sub>3.1 caused by a mutation responsible for spinocerebellar ataxia.
- Published in:
- Molecular Brain, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13041-020-00700-7
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- Publication type:
- Article
First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China.
- Published in:
- PLoS ONE, 2017, v. 12, n. 5, p. 1, doi. 10.1371/journal.pone.0177955
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- Publication type:
- Article
A single nucleotide polymorphism of dopamine transporter gene is associated with Parkinson's disease.
- Published in:
- Annals of Neurology, 2000, v. 47, n. 4, p. 528, doi. 10.1002/1531-8249(200004)47:4<528::AID-ANA20>3.0.CO;2-R
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- Publication type:
- Article
Prospects and status of the dosimetry system for atomic bomb survivor cohort study conducted at Research Institute for Radiation Biology and Medicine of Hiroshima University.
- Published in:
- Journal of Radiation Research, 2021, v. 62, p. i107, doi. 10.1093/jrr/rrab020
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- Publication type:
- Article
DYT6 in Japan-genetic screening and clinical characteristics of the patients.
- Published in:
- Movement Disorders, 2014, v. 29, n. 2, p. 278, doi. 10.1002/mds.25745
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- Publication type:
- Article
Oromandibular dystonia associated with SCA36.
- Published in:
- Movement Disorders, 2013, v. 28, n. 4, p. 558, doi. 10.1002/mds.25304
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- Publication type:
- Article
The clinical characteristics of spinocerebellar ataxia 36: A study of 2121 Japanese ataxia patients.
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- Movement Disorders, 2012, v. 27, n. 9, p. 1158, doi. 10.1002/mds.25092
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- Publication type:
- Article
Optineurin deficiency impairs autophagy to cause interferon beta overproduction and increased survival of mice following viral infection.
- Published in:
- PLoS ONE, 2023, v. 17, n. 6, p. 1, doi. 10.1371/journal.pone.0287545
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- Publication type:
- Article
Mapping Genes Related to Early Onset Major Depressive Disorder in Dagestan Genetic Isolates.
- Published in:
- Turk Psikiyatri Dergisi, 2012, v. 23, n. 3, p. 161
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- Publication type:
- Article
Correction to: FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report.
- Published in:
- 2021
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- Publication type:
- corrected article
Correction to: FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report.
- Published in:
- 2021
- By:
- Publication type:
- Correction Notice
FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant.
- Published in:
- Acta Neuropathologica Communications, 2014, v. 2, n. 1, p. 1, doi. 10.1186/s40478-014-0172-0
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- Publication type:
- Article
Novel compound heterozygous mutations in the <italic>PARK2</italic> gene identified in a Chinese pedigree with early‐onset Parkinson's disease.
- Published in:
- Brain & Behavior, 2018, v. 8, n. 1, p. 1, doi. 10.1002/brb3.901
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- Publication type:
- Article
Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 7, p. 841, doi. 10.1038/ejhg.2008.20
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- Publication type:
- Article
Prediction Model of Amyotrophic Lateral Sclerosis by Deep Learning with Patient Induced Pluripotent Stem Cells.
- Published in:
- Annals of Neurology, 2021, v. 89, n. 6, p. 1226, doi. 10.1002/ana.26047
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- Publication type:
- Article
Optineurin suppression causes neuronal cell death via NF-κB pathway.
- Published in:
- Journal of Neurochemistry, 2013, v. 126, n. 6, p. 699, doi. 10.1111/jnc.12326
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- Publication type:
- Article
RELATIVE BIOLOGICAL EFFECTIVENESS OF NEUTRONS DERIVED FROM THE EXCESS RELATIVE RISK MODEL WITH THE ATOMIC BOMB SURVIVORS DATA MANAGED BY HIROSHIMA UNIVERSITY.
- Published in:
- Radiation Protection Dosimetry, 2018, v. 180, n. 1-4, p. 346, doi. 10.1093/rpd/ncx173
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- Publication type:
- Article
Clinicopathologic study on an ALS family with a heterozygous E478G optineurin mutation.
- Published in:
- Acta Neuropathologica, 2011, v. 122, n. 2, p. 223, doi. 10.1007/s00401-011-0842-y
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- Publication type:
- Article
Optineurin is co-localized with FUS in basophilic inclusions of ALS with FUS mutation and in basophilic inclusion body disease.
- Published in:
- 2011
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- Publication type:
- Letter
A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia.
- Published in:
- Molecular Brain, 2015, v. 8, p. 1, doi. 10.1186/s13041-015-0180-4
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- Publication type:
- Article
Second derivative of the finger photoplethysmogram and cardiovascular mortality in middle-aged and elderly Japanese women.
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- Hypertension Research, 2017, v. 40, n. 2, p. 207, doi. 10.1038/hr.2016.123
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- Publication type:
- Article
Co-morbidity of progressive supranuclear palsy and amyotrophic lateral sclerosis: a clinical-pathological case report.
- Published in:
- 2019
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- Publication type:
- journal article
Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01002-4
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- Publication type:
- Article
A quantitatively-modeled homozygosity mapping algorithm, qHomozygosityMapping, utilizing whole genome single nucleotide polymorphism genotyping data.
- Published in:
- BMC Bioinformatics, 2010, v. 11, p. 1
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- Publication type:
- Article
Kv11 (ether‐à‐go‐go‐related gene) voltage‐dependent K<sup>+</sup> channels promote resonance and oscillation of subthreshold membrane potentials.
- Published in:
- Journal of Physiology, 2021, v. 599, n. 2, p. 547, doi. 10.1113/JP280342
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- Publication type:
- Article
An autopsy report of a familial amyotrophic lateral sclerosis case carrying VCP Arg487His mutation with a unique TDP‐43 proteinopathy.
- Published in:
- Neuropathology, 2021, v. 41, n. 2, p. 118, doi. 10.1111/neup.12710
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- Publication type:
- Article
Amyotrophic lateral sclerosis of long clinical course clinically presenting with progressive muscular atrophy.
- Published in:
- Neuropathology, 2019, v. 39, n. 1, p. 47, doi. 10.1111/neup.12523
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- Publication type:
- Article
A Japanese patient with familial ALS and a p. K510M mutation in the gene for FUS ( FUS) resulting in the totally locked-in state.
- Published in:
- Neuropathology, 2014, v. 34, n. 5, p. 504, doi. 10.1111/neup.12130
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- Publication type:
- Article
An autopsy case of sporadic amyotrophic lateral sclerosis associated with the I113T SOD1 mutation.
- Published in:
- Neuropathology, 2014, v. 34, n. 1, p. 58, doi. 10.1111/neup.12049
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- Publication type:
- Article
Clinicopathologic features of autosomal recessive amyotrophic lateral sclerosis associated with optineurin mutation.
- Published in:
- Neuropathology, 2014, v. 34, n. 1, p. 64, doi. 10.1111/neup.12051
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- Publication type:
- Article
Linear ubiquitination is involved in the pathogenesis of optineurin-associated amyotrophic lateral sclerosis.
- Published in:
- Nature Communications, 2016, v. 7, n. 8, p. 12547, doi. 10.1038/ncomms12547
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- Publication type:
- Article
Homozygosity Mapping on Homozygosity Haplotype Analysis to Detect Recessive Disease-Causing Genes from a Small Number of Unrelated, Outbred Patients.
- Published in:
- PLoS ONE, 2011, v. 6, n. 9, p. 1, doi. 10.1371/journal.pone.0025059
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- Publication type:
- Article
Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease.
- Published in:
- Nature Genetics, 2009, v. 41, n. 12, p. 1303, doi. 10.1038/ng.485
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- Publication type:
- Article
Molecular Features of the CAG Repeats of Spinocerebellar Ataxia 6 (SCA6).
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 8, p. 1283, doi. 10.1093/hmg/6.8.1283
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- Publication type:
- Article
Collaborative Analysis of α-Synuclein Gene Promoter Variability and Parkinson Disease.
- Published in:
- JAMA: Journal of the American Medical Association, 2006, v. 296, n. 6, p. 661, doi. 10.1001/jama.296.6.661
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- Publication type:
- Article
Spinocerebellar ataxia type 17-digenic TBP/STUB1 disease: neuropathologic features of an autopsied patient.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient.
- Published in:
- BMC Neurology, 2014, v. 14, n. 1, p. 1, doi. 10.1186/1471-2377-14-5
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- Publication type:
- Article
Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Investigation on circular asymmetry of geographical distribution in cancer mortality of Hiroshima atomic bomb survivors based on risk maps: analysis of spatial survival data.
- Published in:
- Radiation & Environmental Biophysics, 2012, v. 51, n. 2, p. 133, doi. 10.1007/s00411-012-0402-4
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- Publication type:
- Article
'Raisin bread sign' feature of pontine autosomal dominant microangiopathy and leukoencephalopathy.
- Published in:
- Brain Communications, 2023, v. 5, n. 6, p. 1, doi. 10.1093/braincomms/fcad281
- By:
- Publication type:
- Article
Clinical and Pathological Features of FTDP‐17 with MAPT p.K298_H299insQ Mutation.
- Published in:
- Movement Disorders Clinical Practice, 2024, v. 11, n. 6, p. 720, doi. 10.1002/mdc3.14042
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- Publication type:
- Article
TDP-43 Accumulation Within Intramuscular Nerve Bundles of Patients With Amyotrophic Lateral Sclerosis.
- Published in:
- JAMA Neurology, 2022, v. 79, n. 7, p. 693, doi. 10.1001/jamaneurol.2022.1113
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- Publication type:
- Article
Compound heterozygote mutations in the SIGMAR1 gene in an oldest‐old patient with amyotrophic lateral sclerosis.
- Published in:
- Geriatrics & Gerontology International, 2018, v. 18, n. 10, p. 1519, doi. 10.1111/ggi.13506
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- Publication type:
- Article
Optineurin and amyotrophic lateral sclerosis.
- Published in:
- Geriatrics & Gerontology International, 2013, v. 13, n. 3, p. 528, doi. 10.1111/ggi.12022
- By:
- Publication type:
- Article
Analysis on the Susceptibility Genes in Two Chinese Pedigrees with Familial Parkinson's Disease.
- Published in:
- Neurology Research International, 2010, p. 1, doi. 10.1155/2010/674740
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- Publication type:
- Article
Autopsy Case of Later-Onset Pontocerebellar Hypoplasia Type 1: Pontine Atrophy and Pyramidal Tract Involvement.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
LRRK2 mutations and risk variants in Japanese patients with Parkinson's disease.
- Published in:
- Movement Disorders, 2009, v. 24, n. 7, p. 1034, doi. 10.1002/mds.22514
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- Publication type:
- Article