Human Genome Epidemiology Literature Finder
Records 1 - 18 (of 18 Records) |
Query Trace: 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 |
Neuronal structural protein polymorphism and concussion in college athletes. Brain injury 2011 25 (11): 1108-13. McDevitt Jane K, Tierney Ryan T, Mansell Jamie L, Driban Jeffrey B, Higgins Michael, Toone Nieka, Mishra Anarug, Krynetskiy Evge |
Identification of somatic mutations using whole-exome sequencing in Korean patients with acute myeloid leukemia. BMC medical genetics 2017 03 18 (1): 23. Heo Seong Gu, Koh Youngil, Kim Jong Kwang, Jung Jongsun, Kim Hyung-Lae, Yoon Sung-Soo, Park Ji W |
Whole-exome sequencing reveals novel mutations and epigenetic regulation in hypopharyngeal carcinoma. Oncotarget 2017 11 8 (49): 85326-85340. Wu Ping, Wu Honglong, Tang Yaoyun, Luo Shi, Fang Xing, Xie Chubo, He Jian, Zhao Suping, Wang Xiaofeng, Xu Jiajia, Chen Xi, Li Dongfang, Yang Huanming, Wang Ji |
Systematic Review of Genetic Risk Factors for Sustaining a Mild Traumatic Brain Injury. Journal of neurotrauma 2017 1 34 (13): 2093-2099. Panenka William J, Gardner Andrew J, Dretsch Michael N, Crynen Gogce C, Crawford Fiona C, Iverson Grant |
Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes. BMC medical genomics 2018 Sep 11 (1): 77. Lewis Morag A, Nolan Lisa S, Cadge Barbara A, Matthews Lois J, Schulte Bradley A, Dubno Judy R, Steel Karen P, Dawson Sally |
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 |
Integrated multi-omics data analyses for exploring the co-occurring and mutually exclusive gene alteration events in colorectal cancer. Human mutation 2020 6 41 (9): 1588-1599. Zhou Yuan, Cheng Xiaoqing, Zhang Fenglan, Chen Qingqing, Chen Xinyu, Shen Yaojia, Lai Chong, Kota Vishnu G, Sun Wenjie, Huang Qiong, Yuan Ying, Wang Jin, Lai Maode, Zhang Dand |
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 |
SOD1-related ALS with anticipation in a large family from Martinique. Amyotrophic lateral sclerosis & frontotemporal degeneration 2021 3 22 (7-8): 545-551. Giguet-Valard Anna-Gaelle, Bellance Rémi, Jeannin Séverine, Duclos Sophie, Olive Pascale, Allard-Saint-Albin Oriane, Cazeneuve Cécile, Clot Fabienne, Sophie Pittion-Vouyovitch, Barnetche Thomas, Smith-Ravin Juliette, Goizet Cyr |
Novel TBK1 variant associated with Frontotemporal Dementia overlap syndrome. Acta neurologica Scandinavica 2021 11 145 (4): 399-406. Arshad Faheem, Vengalil Seena, Nalini Atchayaram, Polavarapu Kiran, Shamim Uzma, Jabeen Shumyla, Nagaraj Chandana, Ramakrishnan Subasree, Faruq Mohammad, Alladi Suvar |
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 |
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