Human Genome Epidemiology Literature Finder
Neurological Disorders
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Systemic lupus erythematosus and epilepsy: A Mendelian randomization study. Epilepsia open 2024 9 . Yang Hu, Duo Lin, Dongmei Wu, Yuqing Zhang, Gongbo |
Synergistic Effect between the APOE ?4 Allele with Genetic Variants of GSK3B and MAPT: Differential Profile between Refractory Epilepsy and Alzheimer Disease. International journal of molecular sciences 2024 9 25 (18): . Danira Toral-Rios, Pavel Pichardo-Rojas, Elizabeth Ruiz-Sánchez, Óscar Rosas-Carrasco, Rosa Carvajal-García, Dey Carol Gálvez-Coutiño, Nancy Lucero Martínez-Rodríguez, Ana Daniela Rubio-Chávez, Myr Alcántara-Flores, Arely López-Ramírez, Alma Rosa Martínez-Rosas, Ángel Alberto Ruiz-Chow, Mario Alonso-Vanegas, Victoria Campos-Pe |
Autoimmunity-Associated SNP rs3024505 Disrupts STAT3 Binding in B Cells, Leading to IL10 Dysregulation. International journal of molecular sciences 2024 9 25 (18): . Aksinya N Uvarova, Elina A Zheremyan, Alina S Ustiugova, Matvey M Murashko, Elvina A Bogomolova, Denis E Demin, Ekaterina M Stasevich, Dmitry V Kuprash, Kirill V Korne |
Prevalence of Fabry Disease in Patients on Dialysis in France. International journal of molecular sciences 2024 9 25 (18): . Florence Sens, Laure Guittard, Bertrand Knebelmann, Olivier Moranne, Gabriel Choukroun, Valérie de Précigout, Cécile Couchoud, Isabelle Deleruyelle, Léa Lancelot, Liên Tran Thi Phuong, Thomas Ghafari, Fabrydial Study Group, Laurent Juillard, Dominique P Germa |
Understanding Proton Magnetic Resonance Spectroscopy Neurochemical Changes Using Alzheimer's Disease Biofluid, PET, Postmortem Pathology Biomarkers, and APOE Genotype. International journal of molecular sciences 2024 9 25 (18): . Firat Kara, Kejal Kantar |
HLA-A, -B, -C and -DRB1 Association with Autism Spectrum Disorder Risk: A Sex-Related Analysis in Italian ASD Children and Their Siblings. International journal of molecular sciences 2024 9 25 (18): . Franca Rosa Guerini, Elisabetta Bolognesi, Martina Maria Mensi, Michela Zanette, Cristina Agliardi, Milena Zanzottera, Matteo Chiappedi, Silvia Annunziata, Francisco García-García, Anna Cavallini, Mario Cleri |
Behavioral Alterations of Spatial Cognition and Role of the Apolipoprotein E-?4 in Patients with MCI Due to Alzheimer's Disease: Results from the BDSC-MCI Project. Journal of clinical medicine 2024 9 13 (18): . Davide Maria Cammisuli, Virginia Bellocchio, Alessandra Milesi, Edoardo Nicolò Aiello, Barbara Poletti, Federico Verde, Vincenzo Silani, Nicola Ticozzi, Gloria Marchesi, Valentina Granese, Benedetta Vignati, Valeria Isella, Stefano Zago, Teresa Difonzo, Simone Pomati, Giovanni Porta, Stefania Cattaldo, Alessandro Mauro, Gianluca Castelnuo |
Association of SCN1A Polymorphisms rs3812718 and rs2298771 with Epilepsy. Genes 2024 9 15 (9): . Martha-Spyridoula Katsarou, Anna Siatouni, Danae Tsikrika, Elena Kokkiou, Maria Stefanatou, Anastasia Verentzioti, Athanasia Alexoudi, Stylianos Gatzonis, Nikolaos Drakoulis, Maria Papasav |
CD33 and SHP-1/PTPN6 Interaction in Alzheimer's Disease. Genes 2024 9 15 (9): . Lien Beckers, Mamunur Rashid, Annie J Lee, Zena K Chatila, Kirstin A Tamucci, Ryan C Talcoff, Jennifer L Hall, David A Bennett, Badri N Vardarajan, Elizabeth M Bradsh |
Apolipoprotein E and Alzheimer's Disease in Italian Population: Systematic Review and Meta-Analysis. Brain sciences 2024 9 14 (9): . Diana Marisol Abrego-Guandique, Giorgia Francesca Saraceno, Roberto Cannataro, Marilyn Manzzo de Burnside, Maria Cristina Caroleo, Erika Cio |
Improved polygenic risk prediction in migraine-first patients. The journal of headache and pain 2024 9 25 (1): 161. Dora Torok, Peter Petschner, Daniel Baksa, Gabriella Juha |
Inherited Variants in the COL11A, COL1A, COL5A1, COMP, GSTM1 Genes and the Risk of Carpal Tunnel Syndrome. Handchirurgie, Mikrochirurgie, plastische Chirurgie : Organ der Deutschsprachigen Arbeitsgemeinschaft fur Handchirurgie : Organ der Deutschsprachigen Arbeitsgemeinschaft fur Mikrochirurgie der Peripheren Nerven und Gefasse : Organ der V... 2024 9 56 (5): 359-367. Andrzej Zyluk, Tadeusz Debniak, Filip Flicinski, Helena Rudnic |
Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China. Journal of medical genetics 2024 9 . Kexin Jiao, Jialong Zhang, Qiuxiang Li, Xiaoqing Lv, Yanyan Yu, Bochen Zhu, Huahua Zhong, Xu'en Yu, Jia Song, Qing Ke, Fangyuan Qian, Xinghua Luan, Xiaojie Zhang, Xueli Chang, Liang Wang, Meirong Liu, Jihong Dong, Zhangyu Zou, Bitao Bu, Haishan Jiang, LingChun Liu, Yue Li, Dongyue Yue, Xuechun Chang, Yongsheng Zheng, Ningning Wang, Mingshi Gao, Xingyu Xia, Nachuan Cheng, Tao Wang, Su-Shan Luo, Jianying Xi, Jie Lin, Jiahong Lu, Chongbo Zhao, Huan Yang, Pengfei Lin, Daojun Hong, Zhe Zhao, Zhiqiang Wang, Wenhua Z |
Association of air pollutants with psychiatric disorders: a two-sample Mendelian randomization. Ecotoxicology and environmental safety 2024 9 285 117105. Yuan-Yuan Ma, Qiong-Yan Li, An-Yu Shi, Jiang-Li Li, Yan-Jiang Wang, Xin |
Machine Learning-Driven Prediction of Brain Age for Alzheimer's Risk: APOE4 Genotype and Gender Effects. Bioengineering (Basel, Switzerland) 2024 9 11 (9): . Carter Woods, Xin Xing, Subash Khanal, Ai-Ling L |
The causal association between epilepsy and amyotrophic lateral sclerosis: A two-sample Mendelian randomization study. Brain and behavior 2024 9 14 (10): e70018. Yayong Cui, Junyu Chen, Hong Li, Dong Zheng, Xiaolei S |
The effects of APOEe4 allele on cerebral structure, function, and related interactions with cognition in young adults. Ageing research reviews 2024 9 101 102510. Ludmila Kucikova, Xiong Xiong, Patricia Reinecke, Jessica Madden, Elizabeth Jackson, Oliver Tappin, Weijie Huang, Maria-Eleni Dounavi, Li |
Impaired arterial dilation and increased NOX2 generated oxidative stress in subjects with ataxia-telangiectasia mutated (ATM) kinase. Redox biology 2024 9 77 103347. Lorenzo Loffredo, Annarosa Soresina, Bianca Laura Cinicola, Martina Capponi, Francesca Salvatori, Simona Bartimoccia, Vittorio Picchio, Maurizio Forte, Caterina Caputi, Roberto Poscia, Vincenzo Leuzzi, Alberto Spalice, Pasquale Pignatelli, Raffaele Badolato, Marzia Duse, Francesco Violi, Roberto Carnevale, Anna Maria Zicari, |
Elevated serum circulating cell-free mitochondrial DNA in amyotrophic lateral sclerosis. European journal of neurology 2024 9 e16493. Jieyu Li, Chao Gao, Qingqing Wang, Jing Liu, Zhiying Xie, Yawen Zhao, Meng Yu, Yiming Zheng, He Lv, Wei Zhang, Yun Yuan, Lingchao Meng, Jianwen Deng, Zhaoxia Wa |
Polygenic Scoring for Detection of Ascending Thoracic Aortic Dilation. Circulation. Genomic and precision medicine 2024 9 e004512. John DePaolo, Gina Biagetti, Renae Judy, Grace J Wang, John Kelly, Amit Iyengar, Nicholas J Goel, Nimesh Desai, Wilson Y Szeto, Joseph E Bavaria, Michael G Levin, Scott M Damrau |
Neurological manifestations in adult patients with the m.3243A>G variant in mitochondrial DNA. BMJ neurology open 2024 9 6 (2): e000825. Kari Majamaa, Mikko Kärppä, Jukka S Moilan |
Low penetrance of frequent ATP7B mutations explains the low prevalence of Wilson disease. Lessons from real-life registries. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2024 9 . Pablo Alonso-Castellano, Antonio Tugores, Zoe Mariño, Antonio Olveira, Marina Berenguer, M Pilar Huarte, Jose R Fernández-Ramos, María Lázaro-Ríos, María L González-Diéguez, José M Moreno-Planas, Manuel Hernández-Guerra, Paula Fernández-Álvarez, Manuel Delgado-Blanco, José M Pinazo-Bandera, Marta Romero, Javier Ampuero, Helena Masnou-Ridaura, Alba Cachero, Víctor Vargas, Judith Gómez-Camarero, María J Morillas-Ariño, Esther Molina-Pérez, Anna Miralpeix, Luis García-Villarreal, |
Molecular analysis of SMN2, NAIP, and GTF2H2 gene deletions and relationships with clinical subtypes of spinal muscular atrophy. Journal of neurogenetics 2024 9 1-10. Nilgun Karasu, Hamit Acer, Hilal Akalin, Burcu Turkgenc, Mikail Demir, Izem Olcay Sahin, Nuriye Gokce, Ayten Gulec, Asli Ciplakligil, Ayse Caglar Sarilar, Isa Cuce, Hakan Gumus, Huseyin Per, Mehmet Canpolat, Munis Dund |
Protein tyrosine phosphatase non-receptor type 2 (PTPN2) gene polymorphisms (rs2542151, rs7234029) in Egyptian Behçet's disease patients: a preliminary report. Clinical rheumatology 2024 9 . Doaa H S Attia, Marwa Alkaffas, Mervat Eissa, Laila Rashed, Rasha A M Khattab, Radwa Elzanaty, Rabab A Khattab, Lamees A Sa |
BLESS: bagged logistic regression for biomarker identification. Frontiers in genetics 2024 9 15 1336891. Kyle Gardiner, Xuekui Zhang, Li Xi |
Genetic Polymorphisms of Angiotensin-Converting Enzyme 1 (ACE1) and ACE2 Associated With Severe Acute Respiratory Syndrome COVID-19 in the Palestinian Population. Cureus 2024 9 16 (8): e67670. Lama AbuSaleh, Suheir Ereqat, Amer Al-Jawabreh, Abedelmajeed Naseredd |
Iron-Status Indicators and HFE Gene Polymorphisms in Individuals with Amyotrophic Lateral Sclerosis: An Umbrella Review of Meta-analyses and Systematic Reviews. Biological trace element research 2024 9 . Sara Khoshdooz, Hamid Abbasi, Mohammad Mehdi Abba |
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants. American journal of human genetics 2024 9 . Marcy E Richardson, Megan Holdren, Terra Brannan, Miguel de la Hoya, Amanda B Spurdle, Sean V Tavtigian, Colin C Young, Lauren Zec, Susan Hiraki, Michael J Anderson, Logan C Walker, Shannon McNulty, Clare Turnbull, Marc Tischkowitz, Katherine Schon, Thomas Slavin, William D Foulkes, Melissa Cline, Alvaro N Monteiro, Tina Pesaran, Fergus J Cou |
HAPLN3 p.T34A contributes to incomplete penetrance of moyamoya disease in Chinese carrying RNF213 p.R4810K. European journal of neurology 2024 9 e16473. Jun Xu, Zhengxing Zou, Wanyang Liu, Qian Zhang, Juan Shen, Fangbin Hao, Gan Chen, Dan Yu, Yunzhu Li, Zhengshan Zhang, Yuchen Qin, Rimiao Yang, Yue Wang, Lian Du |
A necroptosis-regulated model from single-cell analysis that predicts survival and identifies the Pivotal role of MAGEA6 in hepatocellular carcinoma. Heliyon 2024 9 10 (18): e37711. Youcheng Zhang, Dapeng Chen, Bing Ang, Xiyue Deng, Bing Li, Yi Bai, Yamin Zha |
Obstructive sleep apnea mediates genetic risk of Diabetes Mellitus: The Hispanic Community Health Study/Study of Latinos. medRxiv : the preprint server for health sciences 2024 9 . Yana Hrytsenko, Brian W Spitzer, Heming Wang, Suzanne M Bertisch, Kent Taylor, Olga Garcia-Bedoya, Alberto R Ramos, Martha L Daviglus, Linda C Gallo, Carmen Isasi, Jianwen Cai, Qibin Qi, Carmela Alcantara, Susan Redline, Tamar Sof |
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