日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Genetic Insights into Hemiplegic Migraine: Whole Exome Sequencing Highlights Vascular Pathway Involvement via Association Analysis

偏瘫型偏头痛的遗传学见解:全外显子组测序通过关联分析揭示血管通路参与

Molaee, Zizi; Smith, Robert A; Maksemous, Neven; Griffiths, Lyn R

The Spectrum of NOTCH3 Variants in an Australian CADASIL Cohort

澳大利亚 CADASIL 患者队列中 NOTCH3 变异谱

Guyler, Solomon K; Tsai, Jasmine; Maksemous, Neven; Smith, Robert A; Sutherland, Heidi G; Harvey, Evelyn; Duggins, Andrew; Griffiths, Lyn R

Gene-Based Burden Testing of Rare Variants in Hemiplegic Migraine: A Computational Approach to Uncover the Genetic Architecture of a Rare Brain Disorder

基于基因的偏瘫型偏头痛罕见变异负担检测:一种揭示罕见脑部疾病遗传结构的计算方法

Alfayyadh, Mohammed M; Maksemous, Neven; Sutherland, Heidi G; Lea, Rodney A; Griffiths, Lyn R

PathVar: A Customisable NGS Variant Calling Algorithm Implicates Novel Candidate Genes and Pathways in Hemiplegic Migraine

PathVar:一种可定制的NGS变异检测算法揭示了偏瘫性偏头痛中新的候选基因和通路

Alfayyadh, Mohammed M; Maksemous, Neven; Sutherland, Heidi G; Lea, Rodney A; Griffiths, Lyn R

Unravelling the Genetic Landscape of Hemiplegic Migraine: Exploring Innovative Strategies and Emerging Approaches

揭示偏瘫型偏头痛的遗传图谱:探索创新策略和新兴方法

Alfayyadh, Mohammed M; Maksemous, Neven; Sutherland, Heidi G; Lea, Rod A; Griffiths, Lyn R

Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes

对偏瘫型偏头痛患者进行全外显子组测序显示,CACNA1H 和 CACNA1I 基因中错义变异的负担增加

Maksemous, Neven; Harder, Aster V E; Ibrahim, Omar; Vijfhuizen, Lisanne S; Sutherland, Heidi; Pelzer, Nadine; de Boer, Irene; Terwindt, Gisela M; Lea, Rodney A; van den Maagdenberg, Arn M J M; Griffiths, Lyn R

Exonic mutations in cell-cell adhesion may contribute to CADASIL-related CSVD pathology

细胞间粘附的外显子突变可能导致 CADASIL 相关的 CSVD 病理

Paul J Dunn, Rodney A Lea, Neven Maksemous, Robert A Smith, Heidi G Sutherland, Larisa M Haupt, Lyn R Griffiths

Investigating a Genetic Link Between Alzheimer's Disease and CADASIL-Related Cerebral Small Vessel Disease

研究阿尔茨海默病与 CADASIL 相关脑小血管病之间的遗传联系

Paul J Dunn, Rodney A Lea, Neven Maksemous, Robert A Smith, Heidi G Sutherland, Larisa M Haupt, Lyn R Griffiths

Investigation of Mitochondrial Related Variants in a Cerebral Small Vessel Disease Cohort

对脑小血管疾病队列中线粒体相关变异的研究

Dunn, P J; Harvey, N R; Maksemous, N; Smith, R A; Sutherland, H G; Haupt, L M; Griffiths, L R

Investigation of CACNA1I Cav3.3 Dysfunction in Hemiplegic Migraine

偏瘫性偏头痛中 CACNA1I Cav3.3 功能障碍的调查

Neven Maksemous, Claire D Blayney, Heidi G Sutherland, Robert A Smith, Rod A Lea, Kim Ngan Tran, Omar Ibrahim, Jeffrey R McArthur, Larisa M Haupt, M Zameel Cader, Rocio K Finol-Urdaneta, David J Adams, Lyn R Griffiths