Human Genome Epidemiology Literature Finder
Neurological Disorders
Records 1 - 30 (of 1012 Records) |
Query Trace: Amyotrophic Lateral Sclerosis[original query] |
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Genome-Wide and Transcriptome-Wide Association Studies on Northern New England and Ohio Amyotrophic Lateral Sclerosis Cohorts. Neurology. Genetics 2024 9 10 (5): e200188. Siting Li, Jiang Gui, Michael N Passarelli, Angeline S Andrew, Kathleen M Sullivan, Kevin A Cornell, Bryan J Traynor, Ali Stark, Ruth Chia, Rebecca M Kuenzler, Erik P Pioro, Walter G Bradley, Elijah W Stomm |
Quantification of serum TDP-43 and neurofilament light chain in patients with amyotrophic lateral sclerosis stratified by UNC13A genotype. Journal of the neurological sciences 2024 9 466 123210. Valeria Casiraghi, Ilaria Milone, Alberto Brusati, Silvia Peverelli, Alberto Doretti, Barbara Poletti, Luca Maderna, Claudia Morelli, Nicola Ticozzi, Vincenzo Silani, Federico Verde, Antonia Rat |
Apolipoproteins, lipids, lipid-lowering drugs and risk of amyotrophic lateral sclerosis and frontotemporal dementia: a meta-analysis and Mendelian randomisation study. Journal of neurology 2024 9 . Christos V Chalitsios, Harriet Ley, Jiali Gao, Martin R Turner, Alexander G Thomps |
The causal association between epilepsy and amyotrophic lateral sclerosis: A two-sample Mendelian randomization study. Brain and behavior 2024 9 14 (10): e70018. Yayong Cui, Junyu Chen, Hong Li, Dong Zheng, Xiaolei S |
Elevated serum circulating cell-free mitochondrial DNA in amyotrophic lateral sclerosis. European journal of neurology 2024 9 e16493. Jieyu Li, Chao Gao, Qingqing Wang, Jing Liu, Zhiying Xie, Yawen Zhao, Meng Yu, Yiming Zheng, He Lv, Wei Zhang, Yun Yuan, Lingchao Meng, Jianwen Deng, Zhaoxia Wa |
Iron-Status Indicators and HFE Gene Polymorphisms in Individuals with Amyotrophic Lateral Sclerosis: An Umbrella Review of Meta-analyses and Systematic Reviews. Biological trace element research 2024 9 . Sara Khoshdooz, Hamid Abbasi, Mohammad Mehdi Abba |
NEK1 haploinsufficiency worsens DNA damage, but not defective ciliogenesis, in C9ORF72 patient-derived iPSC-motoneurons. Human molecular genetics 2024 9 . Serena Santangelo, Sabrina Invernizzi, Marta Nice Sorce, Valeria Casiraghi, Silvia Peverelli, Alberto Brusati, Claudia Colombrita, Nicola Ticozzi, Vincenzo Silani, Patrizia Bossolasco, Antonia Rat |
The role of ALDH2 rs671 polymorphism and C-reactive protein in the phenotypes of male ALS patients. Frontiers in neuroscience 2024 9 18 1397991. Lifang Huang, Mao Liu, Jiahui Tang, Zhenxiang Gong, Zehui Li, Yuan Yang, Min Zha |
Elevated VCP ATPase Activity Correlates With Disease Onset in Multisystem Proteinopathy-1. Neurology. Genetics 2024 9 10 (5): e200191. Sarah E Robinson, Andrew R Findlay, Shan Li, Feng Wang, Marianela Schiava, Jil Daw, Jordi Diaz-Manera, Tsui-Fen Chou, Conrad C Wei |
SOD1 gene screening in ALS - frequency of mutations, patients' attitudes to genetic information and transition to tofersen treatment in a multi-center program. Amyotrophic lateral sclerosis & frontotemporal degeneration 2024 9 1-10. Thomas Meyer, Peggy Schumann, Torsten Grehl, Ute Weyen, Susanne Petri, Annekathrin Rödiger, Robert Steinbach, Julian Grosskreutz, Sarah Bernsen, Patrick Weydt, Joachim Wolf, René Günther, Maximilian Vidovic, Petra Baum, Moritz Metelmann, Jochen H Weishaupt, Berthold Streubel, David C Kasper, Yasemin Koc, Dagmar Kettemann, Jenny Norden, Philipp Schmitt, Bertram Walter, Christoph Münch, Susanne Spittel, André Maier, Péter Körtvélyes |
Concomitant presence of a novel ARPP21 variant and CNVs in Chinese familial amyotrophic lateral sclerosis-frontotemporal dementia patients. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2024 9 . Yiying Wang, Runqing Ju, Jingsi Jiang, Le Mao, Xiaogang Li, Min De |
Small striatal huntingtin inclusions in patients with motor neuron disease with reduced penetrance and intermediate HTT gene expansions. Human molecular genetics 2024 9 . Anna-Karin Roos, Erica Stenvall, Emmy Skelton Kockum, Kornelia Åman Grönlund, Helena Alstermark, Anna Wuolikainen, Peter M Andersen, Angelica Nordin, Karin M E Forsbe |
C9orf72 repeat expansions in Wakayama: One potential cause of amyotrophic lateral sclerosis in the Kii Peninsula, Japan. Journal of the neurological sciences 2024 9 466 123209. Seiji Emori, Kodai Kume, Yoshiaki Nakayama, Hidefumi Ito, Hideshi Kawaka |
Cognitive deficits in ALS patients with SOD1 mutations. Journal of clinical and experimental neuropsychology 2024 9 1-14. Ivar Winroth, Arne Börjesson, Peter M Andersen, Thomas Karlss |
Genotype-phenotype correlation of SQSTM1 variants in patients with amyotrophic lateral sclerosis. Journal of medical genetics 2024 8 . Shichan Wang, Qirui Jiang, Xiaoting Zheng, Qianqian Wei, Junyu Lin, Tianmi Yang, Yi Xiao, Chunyu Li, Huifang Sha |
[Amyotrophic lateral sclerosis associated with a new pathogenic variant of the ERBB4 gene]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 2024 8 124 (7): 165-168. E V Pervushina, M A Kutlubaev, E V Saifullina, E V Gaisina, L A Smakova, I M Khidiyato |
Cognitive reserve as a modulator of cognitive decline and of behavioral symptoms in patients with amyotrophic lateral sclerosis. Amyotrophic lateral sclerosis & frontotemporal degeneration 2024 8 1-11. Sara Simão, Miguel Oliveira Santos, Marta Gromicho, Isabel Pavão Martins, Mamede De Carval |
Causal relationships between rheumatoid arthritis and neurodegenerative diseases: a two-sample univariable and multivariable Mendelian randomization study. Frontiers in medicine 2024 8 11 1439344. Xingyu Chen, Li Cai, Weibing Fan, Qian Yang, Xinfa Mao, Liping Y |
Factors associated with Edinburgh Cognitive and Behavioural ALS Screen (ECAS) alteration at time of diagnosis, in amyotrophic lateral sclerosis. Clinical neurology and neurosurgery 2024 8 245 108499. Federica Ginanneschi, Barbara Pucci, Stefania Casali, Cristina Lissandri, Fabio Giannini, Alessandro Ros |
A Novel De Novo Missense Mutation in KIF1A Associated with Young-Onset Upper-Limb Amyotrophic Lateral Sclerosis. International journal of molecular sciences 2024 8 25 (15): . Emilien Bernard, Florent Cluse, Adrien Bohic, Marc Hermier, Cédric Raoul, Pascal Leblanc, Claire Guissa |
Causal relationship and shared genes between air pollutants and amyotrophic lateral sclerosis: A large-scale genetic analysis. CNS neuroscience & therapeutics 2024 7 30 (7): e14812. Zhihao Li, Jie Wen, Wantao Wu, Ziyu Dai, Xisong Liang, Nan Zhang, Quan Cheng, Hao Zha |
Genetic Associations With an Amyotrophic Lateral Sclerosis Reversal Phenotype. Neurology 2024 7 103 (4): e209696. Jesse I Crayle, Evadnie Rampersaud, Jason R Myers, Joanne Wuu, J Paul Taylor, Gang Wu, Michael Benatar, Richard S Bedla |
Genetic link between KIF1A mutations and amyotrophic lateral sclerosis: evidence from whole-exome sequencing. Frontiers in aging neuroscience 2024 7 16 1421841. Wei Zheng, Ji He, Lu Chen, Weiyi Yu, Nan Zhang, Xiaoxuan Liu, Dongsheng F |
Increased copy-number variant load of associated risk genes in sporadic cases of amyotrophic lateral sclerosis. Cellular and molecular life sciences : CMLS 2024 7 81 (1): 316. Maria Guarnaccia, Giovanna Morello, Valentina La Cognata, Vincenzo La Bella, Francesca Luisa Conforti, Sebastiano Cavalla |
Genetic Landscape of Amyotrophic Lateral Sclerosis in Czech Patients. Journal of neuromuscular diseases 2024 7 . Daniel Baumgartner, Zuzana Mušová, Jana Zídková, Petra Hedvi?áková, Eva Vl?ková, Lubica Joppeková, Tereza Kramá?ová, Lenka Fajkusová, Viktor Stránecký, Jan Geryk, Pavel Votýpka, Radim Mazan |
Association between NEK1 gene polymorphisms and the potential risk of sporadic Parkinson's disease in the Chinese Northern Han population: A case-control study. Neuroscience letters 2024 7 837 137913. Qiqing He, Yuting Zhou, Jianing Jin, Qing Tian, Han Li, Binghui Hou, Anmu X |
Genetic and clinical analysis of OPTN in amyotrophic lateral sclerosis. Journal of medical genetics 2025 1 . Yi Xiao, Yushan Tan, Chunyu Li, Qianqian Wei, Qirui Jiang, Shichan Wang, Tianmi Yang, Junyu Lin, Lingyu Zhang, Huifang Sha |
Impact of APOE and MAPT genetic profile on the cognitive functions among Amyotrophic Lateral Sclerosis Tunisian patients. Journal of neural transmission (Vienna, Austria : 1996) 2025 1 . Ikram Sghaier, Imen Kacem, Antonia Ratti, Khouloud Takout, Youssef Abida, Silvia Peverelli, Nicola Ticozzi, Amina Gargouri-Berrachid, Vincenzo Silani, Riadh Gouid |
Genetic associations between immune-related plasma proteins and neurodegenerative diseases. Neurological research 2025 1 1-10. Zihao Wang, Xiaobei Wang, Peishan Li, Huan Xia, Xinling Ya |
ATXN2 polyglutamine intermediate repeats length expansions in Malaysian patients with amyotrophic lateral sclerosis (ALS). Neurogenetics 2025 1 26 (1): 19. Suzanna Edgar, Nurul Angelyn Zulhairy-Liong, Melina Ellis, Shuchi Trivedi, Danqing Zhu, Jeffrey Ochieng Odongo, Khean-Jin Goh, David Paul Capelle, Nortina Shahrizaila, Marina L Kennerson, Azlina Ahmad-Annu |
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