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Pilar Álvarez Jerez

national institute on aging
H指数:12
被引数:714

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APOE-stratified genome-wide association analyses provide insights into the genetic etiology of Alzheimers’s disease

APOE分层的全基因组关联分析为阿尔茨海默病的遗传病因提供了见解

2026-09-140
OAAI
iSCORE-PD: an isogenic stem cell collection to research Parkinson’s disease

iSCORE-PD:用于帕金森病研究的同基因干细胞库

2026-06-170
OAAI
Long-read sequencing identifies FGF14 repeat expansions in Parkinson’s disease

长读测序鉴定帕金森病中的FGF14重复扩展

Brain
IF11.7
2025-12-020
OAAI
Large-scale genetic characterization of Parkinson’s disease in the African and African admixed populations

大规模帕金森病在非洲和非洲混血人群中的遗传特征研究

Brain
IF11.7
2025-10-080
OAAI
A CGG Repeat Expansion in CSNK1E Associated with Progressive Myoclonic Epilepsy with Incomplete Penetrance

CSNK1E基因中的CGG串联重复序列扩展与不完全外显的进行性肌阵挛癫痫相关

2025-08-010
OAAI
African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1

非洲血统神经变性风险变异破坏了GBA1的内含子分支

2024-12-120
OAAI
The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder

脊髓小脑性共济失调4型的ZFHX3 GGC重复扩增具有共同的祖先创始人

2024-12-050
OA
Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing

使用大规模靶向扩增子长读测序表征SNCA内含子4中复杂的富含CT的单倍型

2024-07-260
OAAI
Profiling complex repeat expansions in RFC1 in Parkinson's disease
2024-05-240
OAAI
Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4
2024-01-1016
OA
Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation
2023-09-1428
OA
Large-scale rare variant burden testing in Parkinson's disease
BRAIN
IF11.7
2023-06-228
OA
Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementias
2023-06-018
OAAI
The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson's disease data (vol 9, 33, 2023)
2023-05-240
OAAI
Exploring the genetic and genomic connection underlying neurodegeneration with brain iron accumulation and the risk for Parkinson's disease
2023-04-064
OAAI
The IPDGC/GP2 Hackathon-an open science event for training in data science, genomics, and collaboration using Parkinson's disease data
2023-03-043
OAAI
Genome-Wide Analysis of Structural Variants in Parkinson Disease
2023-02-0319
OA
Profiling the NOTCH2NLC GGC Repeat Expansion in Parkinson's Disease in the European Population
2022-07-223
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