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J

Jennifer A. Fifita

Macquarie University
H指数:27
被引数:5,269

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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
Parkinson-like wild-type superoxide dismutase 1 pathology induces nigral dopamine neuron degeneration in a novel murine model

帕金森样野生型超氧化物歧化酶1病理学在一种新型啮齿动物模型中诱导黑质多巴胺能神经元变性

2025-03-050
OA
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
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
Unbiased Label-Free Quantitative Proteomics of Cells Expressing Amyotrophic Lateral Sclerosis (ALS) Mutations in CCNF Reveals Activation of the Apoptosis Pathway: A Workflow to Screen Pathogenic Gene Mutations
2021-04-2712
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
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
Expression of ALS/FTD-linked mutant CCNF in zebrafish leads to increased cell death in the spinal cord and an aberrant motor phenotype (vol 26, pg 2616, 2017)
2018-10-270
PREAI
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

全基因组分析鉴定KIF5A是一个新的ALS基因

NEURON
IF15
2018-03-01486
OAAI
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
Expression of ALS/FTD-linked mutant CCNF in zebrafish leads to increased cell death in the spinal cord and an aberrant motor phenotype
2017-04-2137
OAAI