Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 1065 Records) |
Query Trace: Amyotrophic lateral sclerosis[original query] |
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Genetic variation in targets of lipid-lowering drugs and amyotrophic lateral sclerosis risk: a Mendelian randomization study. Amyotrophic lateral sclerosis & frontotemporal degeneration 2023 9 1-10. Zhiguang Li, Mei Tian, Hongning Jia, Xin Li, Qi Liu, Xiaomeng Zhou, Rui Li, Hui Dong, Yaling L |
Predictors for progression in amyotrophic lateral sclerosis associated to SOD1 mutation: insight from two population-based registries. Journal of neurology 2023 9 . Ilaria Martinelli, Andrea Ghezzi, Elisabetta Zucchi, Giulia Gianferrari, Laura Ferri, Cristina Moglia, Umberto Manera, Luca Solero, Rosario Vasta, Antonio Canosa, Maurizio Grassano, Maura Brunetti, Letizia Mazzini, Fabiola De Marchi, Cecilia Simonini, Nicola Fini, Marco Vinceti, Marcello Pinti, Adriano Chiò, Andrea Calvo, Jessica Mandrio |
Another de novo mutation in the SOD1 gene: the first Turkish patient with SOD1-His47Arg, a case report. Frontiers in genetics 2023 9 14 1208673. Elif Bayraktar, Vildan Çiftçi, Hilmi Uysal, A Nazl? Ba? |
C9orf72 Repeat Expansion Discordance in 6 Multigenerational Kindreds. Neurology. Genetics 2023 12 10 (1): e200112. Marie Ryan, Mark A Doherty, Ahmad Al Khleifat, Emmet Costello, Jennifer C Hengeveld, Mark Heverin, Ammar Al-Chalabi, Russell L Mclaughlin, Orla Hardim |
Analysis of normal C9orf72 repeat length as possible disease modifier in amyotrophic lateral sclerosis. Amyotrophic lateral sclerosis & frontotemporal degeneration 2023 12 1-4. Silvia Peverelli, Alberto Brusati, Valeria Casiraghi, Marta Nice Sorce, Sabrina Invernizzi, Serena Santangelo, Claudia Morelli, Federico Verde, Vincenzo Silani, Nicola Ticozzi, Antonia Rat |
A mother and her daughter carrying a pathogenic expansion of the HTT gene with a phenotype encompassing motor neuron disease and Huntington's disease. Clinical genetics 2023 12 . Antonio Canosa, Sara Cabras, Francesca Di Pede, Umberto Manera, Rosario Vasta, Cristina Moglia, Andrea Calvo, Salvatore Gallone, Adriano Ch |
Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations. bioRxiv : the preprint server for biology 2023 12 . Zinan Zhou, Junho Kim, August Yue Huang, Matthew Nolan, Junseok Park, Ryan Doan, Taehwan Shin, Michael B Miller, Brian Chhouk, Katherine Morillo, Rebecca C Yeh, Connor Kenny, Jennifer E Neil, Chao-Zong Lee, Takuya Ohkubo, John Ravits, Olaf Ansorge, Lyle W Ostrow, Clotilde Lagier-Tourenne, Eunjung Alice Lee, Christopher A Wal |
Unveiling the SOD1-mediated ALS phenotype: insights from a comprehensive meta-analysis. Journal of neurology 2023 11 . Teuta Domi, Paride Schito, Giacomo Sferruzza, Tommaso Russo, Laura Pozzi, Federica Agosta, Paola Carrera, Nilo Riva, Massimo Filippi, Angelo Quattrini, Yuri Matteo Falzo |
FUS gene mutation in amyotrophic lateral sclerosis: a new case report and systematic review. Amyotrophic lateral sclerosis & frontotemporal degeneration 2023 11 1-15. Xin Xiao, Min Li, Zhi Ye, Xiaoyan He, Jun Wei, Yunhong Z |
Plasma neurofilament light levels show elevation two years prior to diagnosis of amyotrophic lateral sclerosis in the UK Biobank. Amyotrophic lateral sclerosis & frontotemporal degeneration 2023 11 1-7. Erin N Smith, Jonghun Lee, Daria Prilutsky, Stephen Zicha, Zemin Wang, Steve Han, Neta Za |
Navigating the ALS Genetic Labyrinth: The Role of MAPT Haplotypes. Genes 2023 11 14 (11): . Ivan Tourtourikov, Kristiyan Dabchev, Tihomir Todorov, Teodor Angelov, Teodora Chamova, Ivailo Tournev, Tanya Kadiyska, Vanyo Mitev, Albena Todoro |
Mutation and clinical analysis of the CLCC1 gene in amyotrophic lateral sclerosis patients from Central South China. Annals of clinical and translational neurology 2023 11 . Linxin Tang, Xuxiong Tang, Qianqian Zhao, Yongchao Li, Yue Bu, Zhen Liu, Jinchen Li, Jifeng Guo, Lu Shen, Hong Jiang, Beisha Tang, Renshi Xu, Wenfeng Cao, Yanchun Yuan, Junling Wa |
An analysis of variants in TARDBP in the Korean population with amyotrophic lateral sclerosis: comparison with previous data. Scientific reports 2023 11 13 (1): 18805. Wonjae Sung, Jin-Ah Kim, Yong Sung Kim, Jinseok Park, Ki-Wook Oh, Jung-Joon Sung, Chang-Seok Ki, Young-Eun Kim, Seung Hyun K |
The prognostic value of systematic genetic screening in amyotrophic lateral sclerosis patients. Journal of neurology 2023 11 . Di He, Yining Liu, Siqi Dong, Dongchao Shen, Xunzhe Yang, Meng Hao, Xianhong Yin, Xinyi He, Yi Li, Yi Wang, Mingsheng Liu, Jiucun Wang, Xiangjun Chen, Liying C |
Identifying risk loci for FTD and shared genetic component with ALS: A large-scale multitrait association analysis. Neurobiology of aging 2023 11 134 28-39. Keying Chen, Tongyu Gao, Ying Liu, Kexuan Zhu, Ting Wang, Ping Ze |
Incidence of amyotrophic lateral sclerosis-associated genetic variants: a clinic-based study. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2023 11 . Nan Hu, Lei Zhang, Dongchao Shen, Xunzhe Yang, Mingsheng Liu, Liying C |
NGS study in a sicilian case series with a genetic diagnosis for Gerstmann-Sträussler-Scheinker syndrome (PRNP, p.P102L). Molecular biology reports 2023 10 . Michele Salemi, Luana G M Mandarà, Maria Grazia Salluzzo, Francesca A Schillaci, Roberto Castiglione, Angela Cordella, Roberta Iorio, Concetta Simona Perrotta, Raffaele Ferri, Corrado Roma |
Association between genetically proxied lipid-lowering drug targets, lipid traits, and amyotrophic lateral sclerosis: a mendelian randomization study. Acta neurologica Belgica 2023 10 . Zhaoqi Yan, Yifeng Xu, Keke Li, Liangji L |
VariantSurvival: a tool to identify genotype-treatment response. Frontiers in bioinformatics 2023 10 3 1277923. Thomas Krannich, Marina Herrera Sarrias, Hiba Ben Aribi, Moustafa Shokrof, Alfredo Iacoangeli, Ammar Al-Chalabi, Fritz J Sedlazeck, Ben Busby, Ahmad Al Khleif |
Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS. medRxiv : the preprint server for health sciences 2023 10 . Tess D Pottinger, Joshua E Motelow, Gundula Povysil, Cristiane A Martins Moreno, Zhong Ren, Hemali Phatnani, , Timothy J Aitman, Javier Santoyo-Lopez, , Hiroshi Mitsumoto, , , , David B Goldstein, Matthew B Har |
Rare DNAJC7 Variants May Play a Minor Role in Chinese Patients with ALS. Molecular neurobiology 2023 10 . Shichan Wang, Xiaoting Zheng, Qianqian Wei, Junyu Lin, Tianmi Yang, Yi Xiao, Qirui Jiang, Chunyu Li, Huifang Sha |
Disease survival and progression in TARDBP ALS patients from Sardinia, Italy. Journal of neurology 2023 10 . Giuseppe Borghero, Francesca Pili, Antonella Muroni, Tommaso Ercoli, Maria Ida Pateri, Silvy Pilotto, Alessandra Maccabeo, Giovanni Defaz |
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 |
Causal relationship between coffee intake and neurological diseases: a Mendelian randomization study. European journal of clinical nutrition 2023 10 . Jinjin Zhang, Yuhan Liu, Gang Xu, Xuezhong Cao, Wenmin Wang, Daying Zhang, Mengye Z |
Somatosensory pathway dysfunction in patients with amyotrophic lateral sclerosis in a completely locked-in state. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology 2023 10 . Toshio Shimizu, Yuki Nakayama, Kentaro Hayashi, Yoko Mochizuki, Chiharu Matsuda, Michiko Haraguchi, Kota Bokuda, Takashi Komori, Kazushi Takahas |
Neural stem cell homeostasis is affected in cortical organoids carrying a mutation in Angiogenin. The Journal of pathology 2024 1 . Ross Ferguson, Michael A van Es, Leonard H van den Berg, Vasanta Subramani |
Assessing causal associations between neurodegenerative diseases and neurological tumors with biological aging: a bidirectional Mendelian randomization study. Frontiers in neuroscience 2024 1 17 1321246. Zhiyun Zhang, Ningfang Liu, Xuyang Pan, Chuyi Zhang, Yifan Yang, Xinyun Li, Ying Sh |
Association Between Neurodegenerative Diseases and an Increased Risk of Epilepsy Based on Single Nucleotide Polymorphisms: A Mendelian Randomization Study. Molecular neurobiology 2024 1 . Jia Ouyang, Shijun Peng, Guangyong Wu, Ruen L |
Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations. BMC medical genomics 2024 1 17 (1): 30. Zsófia Flóra Nagy, Margit Pál, József I Engelhardt, Mária Judit Molnár, Péter Klivényi, Márta Szé |
Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS. Research square 2024 1 . Tess D Pottinger, Joshua E Motelow, Gundula Povysil, Cristiane A Martins Moreno, Zhong Ren, Hemali Phatnani, , Timothy J Aitman, Javier Santoyo-Lopez, , Hiroshi Mitsumoto, , David B Goldstein, Matthew B Har |
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- Page last updated:Apr 22, 2024
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