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Satoko Miyatake

Yokohama City University Graduate School of Medicine
H指数:49
被引数:8,304

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Mitochondrial Dysfunction in Digenic TBP/STUB1 Spinocerebellar Ataxia

二基因TBP/STUB1脊髓小脑共济失调中的线粒体功能障碍

2026-09-220
PRE
Clinical features of four unrelated Japanese patients with autosomal recessive spinocerebellar ataxia type 32

四例无血缘关系的常染色体隐性遗传脊髓小脑共济失调32型日本患者的临床特征

2026-08-180
PRE
An N-terminal CDC42 T43I variant reveals the mechanism of pyrin inflammasome activation

N端CDC42 T43I变异体揭示了pyrin炎性小体的激活机制

2026-08-070
PRE
Haplotype analysis of spinocerebellar ataxia type 36 suggests a shared permissive core haplotype across populations

SCA36型脊髓小脑共济失调的基因型分析表明不同人群中存在共享的允许性核心基因型

2026-07-010
PRE
The mTOR-Dop1a-Agpat2 axis regulates nuclear phospholipid homeostasis

mTOR-Dop1a-Agpat2轴调控核磷脂稳态

2026-04-220
OAAI
TBK1-Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia

TBK1-Associated原发性侧索硬化伴右侧颞叶变异型额颞痴呆

2026-02-050
OAAI
Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders

单等位基因和双等位基因RNU4-2变异在神经发育障碍中的作用

2025-12-170
PRE
Correction: Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability

更正:新型复合杂合ABCA2变异导致IDPOGSA,一种具有智力障碍的变异表型综合征。

2025-11-100
PRE
Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay

基因组测序为智力障碍和发育迟缓提供了高诊断率和新的病因学见解。

2025-08-260
OAAI
Diagnostic utility of single-locus DNA methylation mark in Sotos syndrome developed by nanopore sequencing-based episignature

基于纳米孔测序的Sotos综合征单一位点DNA甲基化标记物的诊断效用

2025-02-180
OA