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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Oct 13, 2024. (Total: 232454Documents)
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Records 1 - 8 (of 8 Records)

Query Trace: Amyotrophic Lateral Sclerosis and NEFH[original query]
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
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
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
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