期刊名：Genes

期刊主页：https://www.mdpi.com/journal/genes

本期新书推荐为您精选了Genes 期刊（IF 2.8, Citescore 5.5）的特刊书：神经退行性疾病基因型与表型研究 (Study on Genotypes and Phenotypes of Neurodegenerative Diseases )，欢迎各位学者阅读分享。

1.社论

Study on Genotypes and Phenotypes of Neurodegenerative Diseases

https://www.mdpi.com/2073-4425/15/6/786

Ricci, C. Study on Genotypes and Phenotypes of Neurodegenerative Diseases. Genes 2024, 15, 786. https://doi.org/10.3390/genes15060786

2. GOSR2相关进行性肌阵挛癫痫的遗传学与表型扩展研究

Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy

https://www.mdpi.com/2073-4425/14/10/1860

Hentrich, L.; Parnes, M.; Lotze, T.E.; Coorg, R.; de Koning, T.J.; Nguyen, K.M.; Yip, C.K.; Jungbluth, H.; Koy, A.; Dafsari, H.S. Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy. Genes 2023, 14, 1860. https://doi.org/10.3390/genes14101860

3. 全外显子组关联研究揭示阿尔茨海默病与十三种心血管性状的多效性遗传关联簇

Exome-Wide Association Study Identified Clusters of Pleiotropic Genetic Associations with Alzheimer’s Disease and Thirteen Cardiovascular Traits

https://www.mdpi.com/2073-4425/14/10/1834

Loika, Y.; Loiko, E.; Culminskaya, I.; Kulminski, A.M. Exome-Wide Association Study Identified Clusters of Pleiotropic Genetic Associations with Alzheimer’s Disease and Thirteen Cardiovascular Traits. Genes 2023, 14, 1834. https://doi.org/10.3390/genes14101834

4. 非裔美国人原发性开角型青光眼遗传学研究中大杯盘比与失明的相关因素

Factors Associated with Large Cup-to-Disc Ratio and Blindness in the Primary Open-Angle African American Glaucoma Genetics (POAAGG) Study

https://www.mdpi.com/2073-4425/14/9/1809

Mamidipaka, A.; Di Rosa, I.; Lee, R.; Zhu, Y.; Chen, Y.; Salowe, R.; Addis, V.; Sankar, P.; Daniel, E.; Ying, G.-S.; et al. Factors Associated with Large Cup-to-Disc Ratio and Blindness in the Primary Open-Angle African American Glaucoma Genetics (POAAGG) Study. Genes 2023, 14, 1809. https://doi.org/10.3390/genes14091809

5. 整合分析揭示亨廷顿病脑组织中氨酰-tRNA生物合成代谢物与SEPSECS基因甲基化的相关性

Integrative Analysis Unveils the Correlation of Aminoacyl-tRNA Biosynthesis Metabolites with the Methylation of the SEPSECS Gene in Huntington’s Disease Brain Tissue

https://www.mdpi.com/2073-4425/14/9/1752

Vishweswaraiah, S.; Yilmaz, A.; Saiyed, N.; Khalid, A.; Koladiya, P.R.; Pan, X.; Macias, S.; Robinson, A.C.; Mann, D.; Green, B.D.; et al. Integrative Analysis Unveils the Correlation of Aminoacyl-tRNA Biosynthesis Metabolites with the Methylation of the SEPSECS Gene in Huntington’s Disease Brain Tissue. Genes 2023, 14, 1752. https://doi.org/10.3390/genes14091752

6. 筛选适用于弗里德赖希共济失调治疗对行为表型影响研究的小鼠模型

Finding an Appropriate Mouse Model to Study the Impact of a Treatment for Friedreich Ataxia on the Behavioral Phenotype

https://www.mdpi.com/2073-4425/14/8/1654

Bouchard, C.; Gérard, C.; Yanyabé, S.G.-f.; Majeau, N.; Aloui, M.; Buisson, G.; Yameogo, P.; Couture, V.; Tremblay, J.P. Finding an Appropriate Mouse Model to Study the Impact of a Treatment for Friedreich Ataxia on the Behavioral Phenotype. Genes 2023, 14, 1654. https://doi.org/10.3390/genes14081654

7. ADNI队列中脑脊液高磷酸化tau蛋白的全基因组上位性研究

Genome-Wide Epistasis Study of Cerebrospinal Fluid Hyperphosphorylated Tau in ADNI Cohort

https://www.mdpi.com/2073-4425/14/7/1322

Chen, D.; Li, J.; Liu, H.; Liu, X.; Zhang, C.; Luo, H.; Wei, Y.; Xi, Y.; Liang, H.; Zhang, Q. Genome-Wide Epistasis Study of Cerebrospinal Fluid Hyperphosphorylated Tau in ADNI Cohort. Genes 2023, 14, 1322. https://doi.org/10.3390/genes14071322

8. 一名伴有ATP7B、SETX、SORL1和FOXP1基因变异的皮质基底节综合征与进行性非流利性失语症（CBS-PNFA）患者

A Patient with Corticobasal Syndrome and Progressive Non-Fluent Aphasia (CBS-PNFA), with Variants in ATP7B, SETX, SORL1, and FOXP1 Genes

www.mdpi.com/2073-4425/13/12/2361

Gaweda-Walerych, K.; Sitek, E.J.; Borczyk, M.; Naro?ańska, E.; Brockhuis, B.; Korostyński, M.; Schinwelski, M.; Siemiński, M.; S?awek, J.; Zekanowski, C. A Patient with Corticobasal Syndrome and Progressive Non-Fluent Aphasia (CBS-PNFA), with Variants in ATP7B, SETX, SORL1, and FOXP1 Genes. Genes 2022, 13, 2361. https://doi.org/10.3390/genes13122361

9. IgLON细胞粘附分子在神经退行性疾病中的作用研究

The Role of IgLON Cell Adhesion Molecules in Neurodegenerative Diseases

https://www.mdpi.com/2073-4425/14/10/1886

Salluzzo, M.; Vianello, C.; Abdullatef, S.; Rimondini, R.; Piccoli, G.; Carboni, L. The Role of IgLON Cell Adhesion Molecules in Neurodegenerative Diseases. Genes 2023, 14, 1886. https://doi.org/10.3390/genes14101886

10. INPP5D/SHIP1：在阿尔茨海默病病理生理中的表达、调控与作用研究

INPP5D/SHIP1: Expression, Regulation and Roles in Alzheimer’s Disease Pathophysiology

https://www.mdpi.com/2073-4425/14/10/1845

Olufunmilayo, E.O.; Holsinger, R.M.D. INPP5D/SHIP1: Expression, Regulation and Roles in Alzheimer’s Disease Pathophysiology. Genes 2023, 14, 1845. https://doi.org/10.3390/genes14101845

11. 遗传性痉挛性截瘫临床试验的结局指标与生物标志物：范围综述

Outcome Measures and Biomarkers for Clinical Trials in Hereditary Spastic Paraplegia: A Scoping Review

https://www.mdpi.com/2073-4425/14/9/1756

Siow, S.-F.; Yeow, D.; Rudaks, L.I.; Jia, F.; Wali, G.; Sue, C.M.; Kumar, K.R. Outcome Measures and Biomarkers for Clinical Trials in Hereditary Spastic Paraplegia: A Scoping Review. Genes 2023, 14, 1756. https://doi.org/10.3390/genes14091756

12. 健康和患病哺乳动物大脑中Apelinergic系统的分布、功能和表达

Distribution, Function, and Expression of the Apelinergic System in the Healthy and Diseased Mammalian Brain

https://www.mdpi.com/2073-4425/13/11/2172

Ivanov, M.N.; Stoyanov, D.S.; Pavlov, S.P.; Tonchev, A.B. Distribution, Function, and Expression of the Apelinergic System in the Healthy and Diseased Mammalian Brain. Genes 2022, 13, 2172. https://doi.org/10.3390/genes13112172

https://www.mdpi.com/journal/genes/special_issues/Neurodegenerative_Genotypes_Phenotypes