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Natalie Grima

Monash University
H指数:24
被引数:2,170

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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
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
Altered SOD1 maturation and post-translational modification in amyotrophic lateral sclerosis spinal cord

肌萎缩侧索硬化脊髓中SOD1成熟和翻译后修饰的改变

BRAIN
IF11.7
2022-05-0539
OAAI
Rare germline variants in childhood cancer patients suspected of genetic predisposition to cancer

疑似癌症遗传易感性的儿童癌症患者的罕见种系变异

2021-10-304
PREAI
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
Impaired NHEJ repair in amyotrophic lateral sclerosis is associated with TDP-43 mutations
2020-09-0958
OAAI
A Simple Differentiation Protocol for Generation of Induced Pluripotent Stem Cell-Derived Basal Forebrain-Like Cholinergic Neurons for Alzheimer's Disease and Frontotemporal Dementia Disease Modeling
CELLS
IF5.2
2020-09-0225
OAAI