Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 1066 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 |
Environmental exposure to pesticides and Amyotrophic Lateral Sclerosis in the South of Spain. Neurologia 2023 9 38 (7): 447-452. S Bermudo Fuenmayor, P J Serrano Castro, P Quiroga Subirana, S López Palmero, M Requena Mullor, T Parrón Carre |
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? |
Rare variant and polygenic analyses of amyotrophic lateral sclerosis in the French-Canadian genome. Genetics in medicine : official journal of the American College of Medical Genetics 2023 8 100967. Jay P Ross, Fulya Akçimen, Calwing Liao, Karina Kwan, Daniel E Phillips, Zoe Schmilovich, Dan Spiegelman, Angela Genge, Nicolas Dupré, Patrick A Dion, Sali M K Farhan, Guy A Roule |
Novel data-driven subtypes and stages of brain atrophy in the ALS-FTD spectrum. Research square 2023 8 . Ting Shen, Jacob W Vogel, Jeffrey Duda, Jeffrey S Phillips, Philip A Cook, James Gee, Lauren Elman, Colin Quinn, Defne A Amado, Michael Baer, Lauren Massimo, Murray Grossman, David J Irwin, Corey T McMill |
Loss of function of the ALS-associated NEK1 kinase disrupts microtubule homeostasis and nuclear import. Science advances 2023 8 9 (33): eadi5548. Jacob R Mann, Elizabeth D McKenna, Darilang Mawrie, Vasileios Papakis, Francesco Alessandrini, Eric N Anderson, Ryan Mayers, Hannah E Ball, Evan Kaspi, Katherine Lubinski, Desiree M Baron, Liana Tellez, John E Landers, Udai B Pandey, Evangelos Kiskin |
TBK1 variants in Chinese patients with amyotrophic lateral sclerosis: genetic analysis and clinical features. European journal of neurology 2023 7 . Bi Zhao, Qirui Jiang, Junyu Lin, Qianqian Wei, Chunyu Li, Yanbing Hou, Bei Cao, Lingyu Zhang, Ruwei Ou, Kuncheng Liu, Tianmi Yang, Yi Xiao, Huifang Sha |
A Genome-Wide Screen for the Exonisation of Reference SINE-VNTR-Alus and Their Expression in CNS Tissues of Individuals with Amyotrophic Lateral Sclerosis. International journal of molecular sciences 2023 7 24 (14): . Abigail L Pfaff, Vivien J Bubb, John P Quinn, Sulev Ko |
Assessing causal relationship between circulating cytokines and age-related neurodegenerative diseases: a bidirectional two-sample Mendelian randomization analysis. Scientific reports 2023 7 13 (1): 12325. Zihan Yin, Jiao Chen, Manze Xia, Xinyue Zhang, Yaqin Li, Zhenghong Chen, Qiongnan Bao, Wanqi Zhong, Jin Yao, Kexin Wu, Ling Zhao, Fanrong Lia |
Spatial clustering of amyotrophic lateral sclerosis in Sardinia, Italy: The contribution of age, sex, and genetic factors. Muscle & nerve 2023 7 . Giuseppe Borghero, Maria Margherita Sechi, Rosario Vasta, Vincenzo Pierri, Francesca Pili, Ida Pateri, Silvy Pilotto, Tommaso Ercoli, Antonella Muroni, Adriano Chiò, Giovanni Defaz |
Implication of Central Nervous System Barrier Impairment in Amyotrophic Lateral Sclerosis: Gender-Related Difference in Patients. International journal of molecular sciences 2023 7 24 (13): . Hugo Alarcan, Patrick Vourc'h, Lise Berton, Isabelle Benz-De Bretagne, Eric Piver, Christian R Andres, Philippe Corcia, Charlotte Veyrat-Durebex, Hélène Blas |
A comparative study of cognitive and behavioral profiles between sporadic and type 8 amyotrophic lateral sclerosis. Muscle & nerve 2023 7 . Cássia de Alcântara, Marcelo Maroco Cruzeiro, Marcondes Cavalcante França, Mariana Asmar Alencar, Antônio Jaeger, Caroline Martins de Araújo, Natália Araújo Sundfeld da Gama, Sarah Teixeira Camargos, Leonardo Cruz de Sou |
Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies. Neurology. Genetics 2023 6 9 (4): e200079. John Dou, Kelly Bakulski, Kai Guo, Junguk Hur, Lili Zhao, Sara Saez-Atienzar, Ali Stark, Ruth Chia, Alberto García-Redondo, Ricardo Rojas-Garcia, Juan Francisco Vázquez Costa, Ruben Fernandez Santiago, Sara Bandres-Ciga, Pilar Gómez-Garre, Maria Teresa Periñán, Pablo Mir, Jordi Pérez-Tur, Fernando Cardona, Manuel Menendez-Gonzalez, Javier Riancho, Daniel Borrego-Hernández, Lucia Galán-Dávila, Jon Infante Ceberio, Pau Pastor, Carmen Paradas, Oriol Dols-Icardo, Bryan J Traynor, Eva L Feldman, Stephen A Goutman, |
Cognitive and neuropsychiatric endophenotypes in amyotrophic lateral sclerosis. Brain communications 2023 6 5 (3): fcad166. Emmet Costello, Marie Ryan, Bronagh Donohoe, Caoimhe Kavanagh, Marta Pinto-Grau, Mark Doherty, Russell Lewis McLaughlin, Caroline McHutchison, Sharon Abrahams, Mark Heverin, Orla Hardiman, Niall Pend |
An autopsy case of sporadic, adult-onset amyotrophic lateral sclerosis with heterozygous p.N1935S SETX gene variant. Journal of neuropathology and experimental neurology 2023 6 . Masataka Nakamura, Makoto Nishii, Kodai Kume, Hideshi Kawakami, Yusuke Yakushi |
Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementias. Cell genomics 2023 6 3 (6): 100316. Karri Kaivola, Ruth Chia, Jinhui Ding, Memoona Rasheed, Masashi Fujita, Vilas Menon, Ronald L Walton, Ryan L Collins, Kimberley Billingsley, Harrison Brand, Michael Talkowski, Xuefang Zhao, Ramita Dewan, Ali Stark, Anindita Ray, Sultana Solaiman, Pilar Alvarez Jerez, Laksh Malik, Ted M Dawson, Liana S Rosenthal, Marilyn S Albert, Olga Pletnikova, Juan C Troncoso, Mario Masellis, Julia Keith, Sandra E Black, Luigi Ferrucci, Susan M Resnick, Toshiko Tanaka, , , , , Eric Topol, Ali Torkamani, Pentti Tienari, Tatiana M Foroud, Bernardino Ghetti, John E Landers, Mina Ryten, Huw R Morris, John A Hardy, Letizia Mazzini, Sandra D'Alfonso, Cristina Moglia, Andrea Calvo, Geidy E Serrano, Thomas G Beach, Tanis Ferman, Neill R Graff-Radford, Bradley F Boeve, Zbigniew K Wszolek, Dennis W Dickson, Adriano Chiò, David A Bennett, Philip L De Jager, Owen A Ross, Clifton L Dalgard, J Raphael Gibbs, Bryan J Traynor, Sonja W Scho |
Genetic screening for Huntington disease phenocopies in Sweden: A tertiary center case series focused on short tandem repeat (STR) disorders. Journal of the neurological sciences 2023 6 451 120707. Martin Paucar, José Laffita-Mesa, Valter Niemelä, Helena Malmgren, Inger Nennesmo, Kristina Lagerstedt-Robinson, Magnus Nordenskjöld, Per Svenningss |
Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans. Neurology. Genetics 2023 6 9 (4): e200077. Nomakhosazana R Monnakgotla, Amokelani C Mahungu, Jeannine M Heckmann, Gerrit Botha, Nicola J Mulder, Gang Wu, Evadnie Rampersaud, Jason Myers, Marka Van Blitterswijk, Rosa Rademakers, J Paul Taylor, Joanne Wuu, Michael Benatar, Melissa N |
Case report: Frontotemporal dementia and amyotrophic lateral sclerosis caused by a missense variant (p.Arg89Trp) in the valosin-containing protein gene. Frontiers in genetics 2023 6 14 1155998. Shiroh Miura, Shigeyoshi Hiruki, Tomohisa Okada, Satoko Itani Takei, Kensuke Senzaki, Yoko Okada, Masayuki Ochi, Yuki Tanabe, Hirofumi Ochi, Michiya Igase, Yasumasa Ohyagi, Hiroki Shiba |
A novel gene, TARDBP, and the protein it encodes can predict glioma patient prognosis and establish a prediction model. BMC neurology 2023 5 23 (1): 182. Xu Fang, Fan Wu, Chen Jia |
Genetic factors affecting survival in Japanese patients with sporadic amyotrophic lateral sclerosis: a genome-wide association study and verification in iPSC-derived motor neurons from patients. Journal of neurology, neurosurgery, and psychiatry 2023 5 . Ryoichi Nakamura, Genki Tohnai, Masahiro Nakatochi, Naoki Atsuta, Hirohisa Watanabe, Daisuke Ito, Masahisa Katsuno, Akihiro Hirakawa, Yuishin Izumi, Mitsuya Morita, Takehisa Hirayama, Osamu Kano, Kazuaki Kanai, Nobutaka Hattori, Akira Taniguchi, Naoki Suzuki, Masashi Aoki, Ikuko Iwata, Ichiro Yabe, Kazumoto Shibuya, Satoshi Kuwabara, Masaya Oda, Rina Hashimoto, Ikuko Aiba, Tomohiko Ishihara, Osamu Onodera, Toru Yamashita, Koji Abe, Kouichi Mizoguchi, Toshio Shimizu, Yoshio Ikeda, Takanori Yokota, Kazuko Hasegawa, Fumiaki Tanaka, Kenji Nakashima, Ryuji Kaji, Jun-Ichi Niwa, Manabu Doyu, Chikashi Terao, Shiro Ikegawa, Koki Fujimori, Shiho Nakamura, Fumiko Ozawa, Satoru Morimoto, Kazunari Onodera, Takuji Ito, Yohei Okada, Hideyuki Okano, Gen Sobue, |
Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis. Brain communications 2023 5 5 (3): fcad152. Wolfgang P Ruf, Matej Boros, Axel Freischmidt, David Brenner, Veselin Grozdanov, Joao de Meirelles, Thomas Meyer, Torsten Grehl, Susanne Petri, Julian Grosskreutz, Ute Weyen, Rene Guenther, Martin Regensburger, Tim Hagenacker, Jan C Koch, Alexander Emmer, Annekathrin Roediger, Robert Steinbach, Joachim Wolf, Jochen H Weishaupt, Paul Lingor, Marcus Deschauer, Isabell Cordts, Thomas Klopstock, Peter Reilich, Florian Schoeberl, Berthold Schrank, Daniel Zeller, Andreas Hermann, Antje Knehr, Kornelia Günther, Johannes Dorst, Joachim Schuster, Reiner Siebert, Albert C Ludolph, Kathrin Müll |
Association of Copresence of Pathogenic Variants Related to Amyotrophic Lateral Sclerosis and Prognosis. Neurology 2023 5 . Adriano Chio, Cristina Moglia, Antonio Canosa, Umberto Manera, Maurizio Grassano, Rosario Vasta, Francesca Palumbo, Salvatore Gallone, Maura Brunetti, Marco Barberis, Fabiola De Marchi, Clifton Dalgard, Ruth Chia, Gabriele Mora, Barbara Iazzolino, Laura Peotta, Bryan J Traynor, Lucia Corrado, Sandra Dalfonso, Letizia Mazzini, Andrea Cal |
Motor band sign is specific for amyotrophic lateral sclerosis and corresponds to motor symptoms. Annals of clinical and translational neurology 2024 4 . Charlotte Zejlon, Stefan Sennfält, Johannes Finnsson, Bryan Connolly, Sven Petersson, Tobias Granberg, Caroline Ing |
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 |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 29, 2024
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