Human Genome Epidemiology Literature Finder
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Records 1 - 10 (of 10 Records) |
| Query Trace: Disease and NEFH[original query] |
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| Analysis of heavy neurofilament subunit gene polymorphism in Russian patients with sporadic motor neuron disease (MND). European journal of human genetics : EJHG 2004 Mar 12 (3): 241-4. Skvortsova Veronika, Shadrina Marya, Slominsky Petr, Levitsky Gleb, Kondratieva Ekaterina, Zherebtsova Anna, Levitskaya Nina, Alekhin Alexander, Serdyuk Anna, Limborska Svetla |
| Comprehensive Genetic Analysis of a Hungarian Amyotrophic Lateral Sclerosis Cohort. Frontiers in genetics 2019 10 732. Tripolszki Kornélia, Gampawar Piyush, Schmidt Helena, Nagy Zsófia F, Nagy Dóra, Klivényi Péter, Engelhardt József I, Széll Már |
| Genetic Spectrum and Variability in Chinese Patients with Amyotrophic Lateral Sclerosis. Aging and disease 2019 Dec 10 (6): 1199-1206. Liu Zhi-Jun, Lin Hui-Xia, Wei Qiao, Zhang Qi-Jie, Chen Cong-Xin, Tao Qing-Qing, Liu Gong-Lu, Ni Wang, Gitler Aaron D, Li Hong-Fu, Wu Zhi-Yi |
| Proteomics in cerebrospinal fluid and spinal cord suggests UCHL1, MAP2 and GPNMB as biomarkers and underpins importance of transcriptional pathways in amyotrophic lateral sclerosis. Acta neuropathologica 2019 11 139 (1): 119-134. Oeckl Patrick, Weydt Patrick, Thal Dietmar R, Weishaupt Jochen H, Ludolph Albert C, Otto Mark |
| Sequencing of neurofilament genes identified NEFH Ser787Arg as a novel risk variant of sporadic amyotrophic lateral sclerosis in Chinese subjects. BMC medical genomics 2021 Sep 14 (1): 222. Lin Feng, Lin Wanhui, Zhu Chaofeng, Lin Jilan, Zhu Junge, Li Xu-Ying, Wang Zhanjun, Wang Chaodong, Huang Huap |
| Analysis of Genotype-Phenotype Correlations in Patients With Degenerative Dementia Through the Whole Exome Sequencing. Frontiers in aging neuroscience 2021 11 13 745407. Sun Lin, Zhang Jianye, Su Ning, Zhang Shaowei, Yan Feng, Lin Xiang, Yu Jie, Li Wei, Li Xia, Xiao Shi |
| Intronic NEFH variant is associated with reduced risk for sporadic ALS and later age of disease onset. Scientific reports 2022 Aug 12 (1): 14739. Theunissen Frances, Anderton Ryan S, Mastaglia Frank L, James Ian, Bedlack Richard, Akkari P Antho |
| Whole-Exome Sequencing Analysis of Idiopathic Hypogonadotropic Hypogonadism: Comparison of Varicocele and Nonobstructive Azoospermia. Reproductive sciences (Thousand Oaks, Calif.) 2023 9 . Ziyang Ma, Yi Dai, Lei Jin, Yi Luo, Chen Guo, Rui Qu, Shengyin He, Yugao Liu, Yu Xia, Huan Liu, Lingnan Kong, Miaomiao Xu, Lanlan Zhang, Yue Zhao, Yushanjiang Suliya, Dongzhi Yuan, Luo Ya |
| Genetic overlap between ALS and other neurodegenerative or neuromuscular disorders. Amyotrophic lateral sclerosis & frontotemporal degeneration 2023 10 1-11. Cathrine Goberg Olsen, Øyvind Løvold Busk, Øystein Lunde Holla, Kristian Tveten, Trygve Holmøy, Ole-Bjørn Tysnes, Helle Høy |
| Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS. Annals of clinical and translational neurology 2024 5 . Heather Marriott, Thomas P Spargo, Ahmad Al Khleifat, Peter M Andersen, Nazli A Ba?ak, Johnathan Cooper-Knock, Philippe Corcia, Philippe Couratier, Mamede de Carvalho, Vivian Drory, Marc Gotkine, John E Landers, Russell McLaughlin, Jesús S Mora Pardina, Karen E Morrison, Susana Pinto, Christopher E Shaw, Pamela J Shaw, Vincenzo Silani, Nicola Ticozzi, Philip van Damme, Leonard H van den Berg, Patrick Vourc'h, Markus Weber, Jan H Veldink, , Richard J Dobson, Patrick Schwab, Ammar Al-Chalabi, Alfredo Iacoange |
- Page last reviewed:Feb 1, 2024
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