Detalhe da pesquisa
1.
CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis.
Am J Hum Genet
; 110(7): 1086-1097, 2023 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37339631
2.
Knockdown of optineurin controls C2C12 myoblast differentiation via regulating myogenin and MyoD expressions.
Differentiation
; 123: 1-8, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34844057
3.
Comparison of two families with and without ataxia harboring novel variants in PRKCG.
J Hum Genet
; 67(10): 595-599, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35760954
4.
Prediction Model of Amyotrophic Lateral Sclerosis by Deep Learning with Patient Induced Pluripotent Stem Cells.
Ann Neurol
; 89(6): 1226-1233, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33565152
5.
Kv11 (ether-à-go-go-related gene) voltage-dependent K+ channels promote resonance and oscillation of subthreshold membrane potentials.
J Physiol
; 599(2): 547-569, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33151574
6.
Optineurin defects cause TDP43-pathology with autophagic vacuolar formation.
Neurobiol Dis
; 148: 105215, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33296728
7.
Analysis of genetic risk factors in Japanese patients with Parkinson's disease.
J Hum Genet
; 66(10): 957-964, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33742109
8.
FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report.
BMC Neurol
; 21(1): 396, 2021 Oct 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34641814
9.
An autopsy report of a familial amyotrophic lateral sclerosis case carrying VCP Arg487His mutation with a unique TDP-43 proteinopathy.
Neuropathology
; 41(2): 118-126, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33415820
10.
Optineurin regulates osteoblastogenesis through STAT1.
Biochem Biophys Res Commun
; 525(4): 889-894, 2020 05 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32171527
11.
Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report.
BMC Med Genet
; 21(1): 68, 2020 03 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-32234020
12.
The first Japanese case of primary familial brain calcification caused by an MYORG variant.
J Hum Genet
; 65(10): 917-920, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32451491
13.
Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia.
J Hum Genet
; 65(4): 363-369, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31907387
14.
Aggressive periodontitis and NOD2 variants.
J Hum Genet
; 65(10): 841-846, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32424308
15.
PLK1-mediated phosphorylation of WDR62/MCPH2 ensures proper mitotic spindle orientation.
Hum Mol Genet
; 26(22): 4429-4440, 2017 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28973348
16.
Co-morbidity of progressive supranuclear palsy and amyotrophic lateral sclerosis: a clinical-pathological case report.
BMC Neurol
; 19(1): 168, 2019 Jul 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-31319800
17.
Amyotrophic lateral sclerosis of long clinical course clinically presenting with progressive muscular atrophy.
Neuropathology
; 39(1): 47-53, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30511354
18.
Correction: Comparison of two families with and without ataxia harboring novel variants in PRKCG.
J Hum Genet
; 67(10): 621, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35794208
19.
Correction to: FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report.
BMC Neurol
; 21(1): 413, 2021 Oct 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34706668
20.
Mutations of optineurin in amyotrophic lateral sclerosis.
Nature
; 465(7295): 223-6, 2010 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-20428114