Human Genome Epidemiology Literature Finder
Neurological Disorders
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Novel Variant ANKRD11 Gene Mutation Associated With Drug-Resistant Epilepsy in KBG Syndrome Phenotype. Pediatric neurology 2024 4 155 51-54. Marija Babunovska, Tatjana Cepreganova Cangovska, Igor Kuzmanovski, Predrag Noveski, Dijana Plaseska-Karanfilska, Emilija Cvetkovs |
Trajectories of amyloid beta accumulation - Unveiling the relationship with APOE genotype and cognitive decline. Neurobiology of aging 2024 4 139 44-53. Maha Wybitul, Andreas Buchmann, Nicolas Langer, Christoph Hock, Valerie Treyer, Anton Gietl, |
Metabolomics of cerebrospinal fluid reveals candidate diagnostic biomarkers to distinguish between spinal muscular atrophy type II and type III. CNS neuroscience & therapeutics 2024 4 30 (4): e14718. Mengnan Lu, Xueying Wang, Na Sun, Shaoping Huang, Lin Yang, Dan |
Vitamin D receptor gene polymorphism in Egyptian multiple sclerosis patients. The Egyptian journal of immunology 2024 4 31 (2): 44-54. Nermin R Abdelwahab, Randa R Mabrouk, Nahla M Zakaria, Azza Abdel Nasser, Afaf A Mostafa, Nancy S Wah |
Assessment of Stx-1A gene polymorphism (rs1569061) in relation to the development of multiple sclerosis in Egyptian patients. The Egyptian journal of immunology 2024 4 31 (2): 18-27. Christine A Habib, Aziza A El-Sebai, Mohamed M Fouad, Marwa A El-Mohamdy, Amani M Abdel Ghani, Somia A Bawa |
Characteristic Fingerprint Spectrum of ?-Synuclein Mutants on Terahertz Time-Domain Spectroscopy. Biophysical journal 2024 4 . Xiaofang Zhao, Chenlong Yang, Xin Chen, Yu Sun, Weihai Liu, Qinggang Ge, Jun Ya |
Clinical characteristics of patients with migraine accompanied by tremor. Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2024 4 49 (1): 68-74. Zenghui Fu, Yan Jin, Zaihong Lin, Yan Jiang, Shu DU, Jing Liu, Guangping Zhang, Yang Liu, Huili |
Disentangling sex-dependent effects of APOE on diverse trajectories of cognitive decline in Alzheimer's disease. NeuroImage 2024 4 292 120609. Haixu Ma, Zhuoyu Shi, Minjeong Kim, Bin Liu, Patrick J Smith, Yufeng Liu, Guorong Wu, |
SCN5A gene variants and arrhythmic risk in Brugada Syndrome: an updated systematic review and meta-analysis. Heart rhythm 2024 4 . Ioannis Doundoulakis, Luigi Pannone, Sotirios Chiotis, Domenico Giovanni Della Rocca, Antonio Sorgente, Panagiotis Tsioufis, Alvise Del Monte, Giampaolo Vetta, Christos Piperis, Ingrid Overeinder, Gezim Bala, Alexandre Almorad, Erwin Ströker, Juan Sieira, Mark La Meir, Pedro Brugada, Dimitrios Tsiachris, Andrea Sarkozy, Gian Battista Chierchia, Carlo de Asmund |
RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses. The Lancet. Neurology 2024 4 . Emil K Gustavsson, Jordan Follett, Joanne Trinh, Sandeep K Barodia, Raquel Real, Zhiyong Liu, Melissa Grant-Peters, Jesse D Fox, Silke Appel-Cresswell, A Jon Stoessl, Alex Rajput, Ali H Rajput, Roland Auer, Russel Tilney, Marc Sturm, Tobias B Haack, Suzanne Lesage, Christelle Tesson, Alexis Brice, Carles Vilariño-Güell, Mina Ryten, Matthew S Goldberg, Andrew B West, Michele T Hu, Huw R Morris, Manu Sharma, Ziv Gan-Or, Bedia Samanci, Pawel Lis, Maria Teresa Periñan, Rim Amouri, Samia Ben Sassi, Faycel Hentati, , Francesca Tonelli, Dario R Alessi, Matthew J Farr |
Vascular Heparan Sulfate and Amyloid-? in Alzheimer's Disease Patients. International journal of molecular sciences 2024 4 25 (7): . Ilayda Ozsan McMillan, Marla Gearing, Lianchun Wa |
The Immunometabolic Gene N-Acetylglucosamine Kinase Is Uniquely Involved in the Heritability of Multiple Sclerosis Severity. International journal of molecular sciences 2024 4 25 (7): . Serge Nataf, Marine Guillen, Laurent Pa |
Constitutive NOS Production Is Modulated by Alzheimer's Disease Pathology Depending on APOE Genotype. International journal of molecular sciences 2024 4 25 (7): . Chiara Giuseppina Bonomi, Alessandro Martorana, Denise Fiorelli, Marzia Nuccetelli, Fabio Placidi, Nicola Biagio Mercuri, Caterina Mot |
Safety of the Breast Cancer Adjuvant Radiotherapy in Ataxia-Telangiectasia Mutated Variant Carriers. Cancers 2024 4 16 (7): . Rayan Bensenane, Arnaud Beddok, Fabienne Lesueur, Alain Fourquet, Mathilde Warcoin, Marine Le Mentec, Eve Cavaciuti, Dorothée Le Gal, Séverine Eon-Marchais, Nadine Andrieu, Dominique Stoppa-Lyonnet, Youlia Kiro |
Evaluation of the Value of Histological Examination for the Prediction of Genetic Thoracic Proximal Aortopathies. Journal of clinical medicine 2024 4 13 (7): . Adrian Mahlmann, Roman N Rodionov, Christian-Alexander Behrendt, Jennifer Lynne Leip, Helmut Karl Lackner, Mohamed Eraqi, Nesma Elzanaty, Tamer Gha |
Developmental dyslexia susceptibility genes DNAAF4, DCDC2, and NRSN1 are associated with brain function in fluently reading adolescents and young adults. Cerebral cortex (New York, N.Y. : 1991) 2024 4 34 (4): . Nea Rinne, Patrik Wikman, Elisa Sahari, Juha Salmi, Elisabet Einarsdóttir, Juha Kere, Kimmo Al |
Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods. Orphanet journal of rare diseases 2024 4 19 (1): 159. Yupeng Liu, Xue Ma, Zhehui Chen, Ruxuan He, Yao Zhang, Hui Dong, Yanyan Ma, Tongfei Wu, Qiao Wang, Yuan Ding, Xiyuan Li, Dongxiao Li, Jinqing Song, Mengqiu Li, Ying Jin, Jiong Qin, Yanling Ya |
Metabotropic glutamate receptor genetic variants and peripheral receptor expression affects trait scores of autistic probands. Scientific reports 2024 4 14 (1): 8558. Nilanjana Dutta, Mahasweta Chatterjee, Sharmistha Saha, Swagata Sinha, Kanchan Mukhopadhy |
Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428. Scientific reports 2024 4 14 (1): 8533. Anthony M Musolf, Cristina M Justice, Zeynep Erdogan-Yildirim, Seppe Goovaerts, Araceli Cuellar, John R Shaffer, Mary L Marazita, Peter Claes, Seth M Weinberg, Jae Li, Craig Senders, Marike Zwienenberg, Emil Simeonov, Radka Kaneva, Tony Roscioli, Lorena Di Pietro, Marta Barba, Wanda Lattanzi, Michael L Cunningham, Paul A Romitti, Simeon A Boyadji |
Genome-wide association study identifies DRAM1 associated with Tourette syndrome in Taiwan. Biomedical journal 2024 4 100725. Wei-De Lin, Ting-Yuan Liu, Yu-Chia Chen, I-Ching Chou, Fuu-Jen Ts |
Associations of Serum 25-hydroxyvitamin D and Vitamin D Receptor Polymorphisms with Risks of Cardiovascular Disease and Mortality among Patients with Chronic Kidney Disease: A Prospective Study. The American journal of clinical nutrition 2024 4 . Shiyu Zhao, Xue Chen, Zhenzhen Wan, Tingting Geng, Qi Lu, Hancheng Yu, Xiaoyu Lin, An Pan, Gang L |
Clinical characteristics of BRAT1-related disease: a systematic literature review. Acta neurologica Belgica 2024 4 . Weijing Kong, Xianying Cao, Cheng |
Case report: Response to everolimus in a patient with platinum resistant, high grade serous ovarian carcinoma with biallelic TSC2 inactivation. Frontiers in oncology 2024 4 14 1357980. Mariko Peterson, David L Kolin, Panagiotis A Konstantinopoul |
NF1-Driven Rhabdomyosarcoma Phenotypes: A Comparative Clinical and Molecular Study of NF1-Mutant Rhabdomyosarcoma and NF1-Associated Malignant Triton Tumor. JCO precision oncology 2024 4 8 e2300597. Henry de Traux de Wardin, Josephine K Dermawan, Fabio Vanoli, Samuel C Jiang, Samuel Singer, Ping Chi, William Tap, Leonard H Wexler, Cristina R Antones |
No causal association between pneumoconiosis and three inflammatory immune diseases: a Mendelian randomization study. Frontiers in public health 2024 4 12 1373044. Yu-Jie Du, Zhang-Wei Lu, Kai-Di Li, Yi-Yu Wang, Hong Wu, Rong-Gui Huang, Xue Jin, Yi-Yuan Wang, Jing Wang, An-Yi Geng, Bao-Zhu |
Protective Effects of Coptis chinensis Rhizome Extract and Its Constituents (Berberine, Coptisine, and Palmatine) against ?-Synuclein Neurotoxicity in Dopaminergic SH-SY5Y Cells. Biological & pharmaceutical bulletin 2024 4 47 (4): 827-839. Chih-Hsin Lin, Yih-Ru Wu, Chih-Ying Chao, Kuo-Hsuan Chang, Chiung-Mei Chen, Wan-Ling Chen, Pei-Ning Yang, Guey-Jen Lee-Ch |
Impact of Viloxazine Extended-Release Capsules (Qelbree) on Select Cytochrome P450 Enzyme Activity and Evaluation of CYP2D6 Genetic Polymorphisms on Viloxazine Pharmacokinetics. Clinical drug investigation 2024 4 . Zhao Wang, Tesfaye Liranso, Zulane Maldonado-Cruz, Alisa R Kosheleff, Azmi Nass |
Sex differences in interacting genetic and functional connectivity biomarkers in Alzheimer's disease. GeroScience 2024 4 . Jordan N Williamson, Shirley A James, Sean P Mullen, Bradley P Sutton, Tracey Wszalek, Beni Mulyana, Peter Mukli, Andriy Yabluchanskiy, , Yuan Ya |
Rare genetic variation in fibronectin 1 (FN1) protects against APOE?4 in Alzheimer's disease. Acta neuropathologica 2024 4 147 (1): 70. Prabesh Bhattarai, Tamil Iniyan Gunasekaran, Michael E Belloy, Dolly Reyes-Dumeyer, Dörthe Jülich, Hüseyin Tayran, Elanur Yilmaz, Delaney Flaherty, Bengisu Turgutalp, Gauthaman Sukumar, Camille Alba, Elisa Martinez McGrath, Daniel N Hupalo, Dagmar Bacikova, Yann Le Guen, Rafael Lantigua, Martin Medrano, Diones Rivera, Patricia Recio, Tal Nuriel, Nilüfer Ertekin-Taner, Andrew F Teich, Dennis W Dickson, Scott Holley, Michael Greicius, Clifton L Dalgard, Michael Zody, Richard Mayeux, Caghan Kizil, Badri N Vardaraj |
Mutation analysis and clinical profile of South African patients with Neurofibromatosis type 1 (NF1) phenotype. Frontiers in genetics 2024 4 15 1331278. Maria Mabyalwa Mudau, Bronwyn Dillon, Clarice Smal, Candice Feben, Engela Honey, Nadia Carstens, Amanda Krau |
A protective role of genetically predicted sex hormone-binding globulin on stroke. Heliyon 2024 4 10 (7): e28556. Qiang He, Wenjing Wang, Yang Xiong, Chuanyuan Tao, Lu Ma, Jinming Han, Chao Y |
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- Page last updated:Apr 22, 2024
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