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Emily P. McCann

macquarie university
H指数:19
被引数:2,352

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Identity-by-descent to resolve reduced penetrance and advance gene discovery in neurodegenerative disease

基于亲缘关系的分析以解决神经退行性疾病中的遗传力降低问题并推动基因发现

Brain
IF11.7
2026-09-250
OAAI
Ultra-rare variants in LAMA2 are risk factors for frontotemporal dementia and motor neuron disease

LAMA2中的超罕见变异是额颞叶痴呆和运动神经元病的风险因素

2026-05-210
OA
OPM-MEG in multiple sclerosis: Proof of principle, and the effect of naturalistic posture

多发性硬化中的OPM-MEG:原理验证及自然姿态的影响

2025-09-260
OAAI
Letter to the editor on: Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022)

致编辑的信: 神经元核内包涵体疾病中的Hornerin沉积: Park等人直接鉴定包涵体中具有成分偏倚区域的蛋白质 (2022)

2024-01-020
OAAI
Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia

散发性肌萎缩性侧索硬化症和额颞痴呆的短串联重复扩增

2023-05-0515
OAAI
Splicing factor proline and glutamine rich intron retention, reduced expression and aggregate formation are pathological features of amyotrophic lateral sclerosis

剪接因子脯氨酸和谷氨酰胺丰富的内含子保留,表达减少和聚集体形成是肌萎缩侧索硬化的病理特征

2021-08-0211
OAAI
CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis

CYLD是额颞叶痴呆-肌萎缩性侧索硬化症的致病基因

BRAIN
IF11.7
2020-03-2364
OAAI
Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice
2019-11-0512
PREAI
Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis

跨种族荟萃分析确定GPX3-TNIP1位点与肌萎缩性侧索硬化症的关联

2017-09-2071
OAAI
Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development (vol 94, pg 322, 2017)
NEURON
IF15
2017-05-0117
OAAI
Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development
NEURON
IF15
2017-04-0151
OAAI
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

全基因组关联分析确定肌萎缩侧索硬化症的新风险变异和遗传结构

2016-07-25426
OAAI
CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia
2016-04-15189
OAAI