Publications:

Neural Networks in Autosomal Dominant Alzheimer's Disease: Insights From Functional Magnetic Resonance Imaging Studies.

Frontiers In Aging Neuroscience

Qiu, Qiongqiong Q

Publication Date: 2022

Variant appearance in text: PSEN2: F181I

PubMed Link: 35928996

Variant Present in the following documents:

• Main text
• fnagi-14-903269.pdf

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Effects of gene mutation and disease progression on representative neural circuits in familial Alzheimer's disease.

Alzheimer'S Research & Therapy

Quan, Meina M; Zhao, Tan T; Tang, Yi Y; Luo, Ping P; Wang, Wei W; Qin, Qi Q; Li, Tingting T; Wang, Qigeng Q; Fang, Jiliang J; Jia, Jianping J

Publication Date: 2020-01-14

Variant appearance in text: PS2: F181I

PubMed Link: 31937364

Variant Present in the following documents:

• Main text
• 13195_2019_Article_572.pdf

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Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.

Human Mutation

Gilbert, Melissa A MA; Bauer, Robert C RC; Rajagopalan, Ramakrishnan R; Grochowski, Christopher M CM; Chao, Grace G; McEldrew, Deborah D; Nassur, James A JA; Rand, Elizabeth B EB; Krock, Bryan L BL; Kamath, Binita M BM; Krantz, Ian D ID; Piccoli, David A DA; Loomes, Kathleen M KM; Spinner, Nancy B NB

Publication Date: 2019-12

Variant appearance in text: PS2: 541T>A

PubMed Link: 31343788

Variant Present in the following documents:

• HUMU-40-2197-s001.pdf

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