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Elisa De La Cruz, Claire Guissart, Florence Esselin, Anne Polge, Nicolas Pageot, Guillaume Taieb, Serge Lumbroso, William Camu & Kevin Mouzat. (2022) Compound heterozygous P67S/D91A SOD1 mutations in an ALS family with apparently sporadic case. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 23:5-6, pages 458-461.
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Si-Qi Dong, Xiao-Ni Liu, Wen-Bo Yang, Yan-Ni Zhou, Jiu-Cun Wang & Xiang-Jun Chen. (2020) An exon 5 mutation (c.425G>C, p.Gly141Ala) in the SOD1 gene in a Chinese family associated with incomplete penetrance. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 21:5-6, pages 473-476.
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Benedetta Perrone & Francesca Luisa Conforti. (2020) Common mutations of interest in the diagnosis of amyotrophic lateral sclerosis: how common are common mutations in ALS genes?. Expert Review of Molecular Diagnostics 20:7, pages 703-714.
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Hui-Xia Lin, Qing-Qing Tao, Qiao Wei, Cong-Xin Chen, Yu-Chao Chen, Hong-Fu Li, Aaron D. Gitler & Zhi-Ying Wu. (2019) Identification and functional analysis of novel mutations in the SOD1 gene in Chinese patients with amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 20:3-4, pages 222-228.
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Zhang-Yu Zou, Ming-Sheng Liu, Xiao-Guang Li & Li-Ying Cui. (2016) Mutations in FUS are the most frequent genetic cause in juvenile sporadic ALS patients of Chinese origin. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 17:3-4, pages 249-252.
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Magdalena Kuźma-Kozakiewicz, Mariusz Berdyński, Mitsuya Morita, Yuji Takahashi, Akihiro Kawata, Ken-Ichi Kaida, Beata Kaźmierczak, Anna Łusakowska, Jun Goto, Shoji Tsuji, Cezary Żekanowski & Hubert Kwieciński. (2013) Recurrent K3E mutation in Cu/Zn superoxide dismutase gene associated with amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 14:7-8, pages 608-614.
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Audrey Dangoumau, Charlotte Veyrat-Durebex, Hélène Blasco, Julien Praline, Philippe Corcia, Christian R. Andres & Patrick Vourc'h. (2013) Protein SUMOylation, an emerging pathway in amyotrophic lateral sclerosis. International Journal of Neuroscience 123:6, pages 366-374.
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Articles from other publishers (36)
Daniel Sánchez-Tejerina, Juan Luis Restrepo-Vera, Eulalia Rovira-Moreno, Marta Codina-Sola, Arnau Llauradó, Javier Sotoca, Maria Salvado, Núria Raguer, Elena García-Arumí & Raúl Juntas-Morales. (2022) An Atypical Presentation of Upper Motor Neuron Predominant Juvenile Amyotrophic Lateral Sclerosis Associated with TARDBP Gene: A Case Report and Review of the Literature. Genes 13:8, pages 1483.
Crossref
Crossref
Jing Ma, Xiaomin Pang, Shan Huang, Jing Zhang, Juan Wang, Rongjuan Zhao, Xueli Chang, Junhong Guo & Wei Zhang. (2021) Genetic analysis in Chinese patients with familial or young-onset amyotrophic lateral sclerosis. Neurological Sciences 43:4, pages 2579-2587.
Crossref
Crossref
Xinyi Zhao, Xinhong Feng, Xiuli Li, Jingyu Mou, Hongjing Liu, Jing Chen & Jian Wu. (2022) The G41D mutation in SOD1-related amyotrophic lateral sclerosis exhibits phenotypic heterogeneity among individuals. Medicine 101:6, pages e28771.
Crossref
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Alexios-Fotios A. Mentis, Anastasia M. Bougea & George P. Chrousos. (2021) Amyotrophic lateral sclerosis (ALS) and the endocrine system: Are there any further ties to be explored?. Aging Brain 1, pages 100024.
Crossref
Crossref
Vasanta Subramanian, Ross Ferguson & K Ravi Acharya. 2021. Encyclopedia of Biological Chemistry III. Encyclopedia of Biological Chemistry III
368
383
.
Claire Guissart, Kevin Mouzat, Jovana Kantar, Baptiste Louveau, Paul Vilquin, Anne Polge, Cédric Raoul & Serge Lumbroso. (2020) Premature termination codons in SOD1 causing Amyotrophic Lateral Sclerosis are predicted to escape the nonsense-mediated mRNA decay. Scientific Reports 10:1.
Crossref
Crossref
Vincent Picher-Martel, Francis BrunetNicolas Dupré & Nicolas Chrestian. (2020) The Occurrence of FUS Mutations in Pediatric Amyotrophic Lateral Sclerosis: A Case Report and Review of the Literature. Journal of Child Neurology 35:8, pages 556-562.
Crossref
Crossref
Chen Chen, Xiufang Ding, Nimrah Akram, Song Xue & Shi-Zhong Luo. (2019) Fused in Sarcoma: Properties, Self-Assembly and Correlation with Neurodegenerative Diseases. Molecules 24:8, pages 1622.
Crossref
Crossref
Navid Mohammadian & Farnoush Faridbod. (2018) ALS genosensing using DNA-hybridization electrochemical biosensor based on label-free immobilization of ssDNA on Sm2O3 NPs-rGO/PANI composite. Sensors and Actuators B: Chemical 275, pages 432-438.
Crossref
Crossref
Carmine Ungaro, Luigi Citrigno, Francesca Trojsi, Teresa Sprovieri, Giulia Gentile, Maria Muglia, Maria Rosaria Monsurrò, Gioacchino Tedeschi, Sebastiano Cavallaro & Francesca Luisa Conforti. (2018) ALS and CHARGE syndrome: a clinical and genetic study. Acta Neurologica Belgica 118:4, pages 629-635.
Crossref
Crossref
Hung Phuoc Nguyen, Sara Van Mossevelde, Lubina Dillen, Jan L. De Bleecker, Matthieu Moisse, Philip Van Damme, Christine Van Broeckhoven, Julie van der Zee, Sebastiaan Engelborghs, Roeland Crols, Peter P. De Deyn, Peter De Jonghe, Jonathan Baets, Patrick Cras, Rudy Mercelis, Rik Vandenberghe, Anne Sieben, Patrick Santens, Adrian Ivanoiu, Olivier Deryck, Ludo Vanopdenbosch & Jean Delbeck. (2018) NEK1 genetic variability in a Belgian cohort of ALS and ALS-FTD patients. Neurobiology of Aging 61, pages 255.e1-255.e7.
Crossref
Crossref
Fleur C. Garton, Beben Benyamin, Qiongyi Zhao, Zhijun Liu, Jacob Gratten, Anjali K. Henders, Zong-Hong Zhang, Janette Edson, Sarah Furlong, Sarah Morgan, Susan Heggie, Kathryn Thorpe, Casey Pfluger, Karen A. Mather, Perminder S. Sachdev, Allan F. McRae, Matthew R. Robinson, Sonia Shah, Peter M. Visscher, Marie Mangelsdorf, Robert D. Henderson, Naomi R. Wray & Pamela A. McCombe. (2017) Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort. Molecular Genetics & Genomic Medicine 5:4, pages 418-428.
Crossref
Crossref
Tetsuya Akiyama, Hitoshi Warita, Masaaki Kato, Ayumi Nishiyama, Rumiko Izumi, Chikako Ikeda, Masaki Kamada, Naoki Suzuki & Masashi Aoki. (2016)
Genotype-phenotype relationships in familial amyotrophic lateral sclerosis with
FUS/TLS
mutations in Japan
. Muscle & Nerve 54:3, pages 398-404.
Crossref
Crossref
Li-shou Pan, Xin-bo Deng, Zheng Wang, Hui-lin Leng, Xue-peng Zhu & Dan Ding. (2016) Lack of association between the Angiogenin (ANG) rs11701 polymorphism and amyotrophic lateral sclerosis risk: a meta-analysis. Neurological Sciences 37:5, pages 655-662.
Crossref
Crossref
Isil Keskin, Elin Forsgren, Dale J. Lange, Markus Weber, Anna Birve, Matthis Synofzik, Jonathan D. Gilthorpe, Peter M. Andersen & Stefan L. Marklund. (2016) Effects of Cellular Pathway Disturbances on Misfolded Superoxide Dismutase-1 in Fibroblasts Derived from ALS Patients. PLOS ONE 11:2, pages e0150133.
Crossref
Crossref
Kimitoshi Hirayanagi, Masayuki Sato, Natsumi Furuta, Kouki Makioka & Yoshio Ikeda. (2016) Juvenile-onset Sporadic Amyotrophic Lateral Sclerosis with a Frameshift <i>FUS</i> Gene Mutation Presenting Unique Neuroradiological Findings and Cognitive Impairment. Internal Medicine 55:6, pages 689-693.
Crossref
Crossref
Lishou Pan, Xinbo Deng, Dan Ding, Huilin Leng, Xuepeng Zhu & Zheng Wang. (2015) Association between the Angiogenin (ANG) K17I variant and amyotrophic lateral sclerosis risk in Caucasian: a meta-analysis. Neurological Sciences 36:12, pages 2163-2168.
Crossref
Crossref
Annemarie Hübers, Walter Just, Angela Rosenbohm, Kathrin Müller, Nicolai Marroquin, Ingrid Goebel, Josef Högel, Holger Thiele, Janine Altmüller, Peter Nürnberg, Jochen H. Weishaupt, Christian Kubisch, Albert C. Ludolph & Alexander E. Volk. (2015) De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients. Neurobiology of Aging 36:11, pages 3117.e1-3117.e6.
Crossref
Crossref
Ximena Paez-Colasante, Claudia Figueroa-Romero, Stacey A. Sakowski, Stephen A. Goutman & Eva L. Feldman. (2015) Amyotrophic lateral sclerosis: mechanisms and therapeutics in the epigenomic era. Nature Reviews Neurology 11:5, pages 266-279.
Crossref
Crossref
Giuseppe Marangi & Bryan J. Traynor. (2015) Genetic causes of amyotrophic lateral sclerosis: New genetic analysis methodologies entailing new opportunities and challenges. Brain Research 1607, pages 75-93.
Crossref
Crossref
Kasper P. Kepp. (2015) Genotype-Property Patient-Phenotype Relations Suggest that Proteome Exhaustion Can Cause Amyotrophic Lateral Sclerosis. PLOS ONE 10:3, pages e0118649.
Crossref
Crossref
Janet Cady, Peggy Allred, Taha Bali, Alan Pestronk, Alison Goate, Timothy M. Miller, Robi D. Mitra, John Ravits, Matthew B. Harms & Robert H. Baloh. (2015) Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes. Annals of Neurology 77:1, pages 100-113.
Crossref
Crossref
Bing-Wen Soong, Kon-Ping Lin, Yuh-Cherng Guo, Chou-Ching K. Lin, Pei-Chien Tsai, Yi-Chu Liao, Yi-Chun Lu, Shuu-Jiun Wang, Ching-Piao Tsai & Yi-Chung Lee. (2014) Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis. Neurobiology of Aging 35:10, pages 2423.e1-2423.e6.
Crossref
Crossref
Hao Deng, Kai Gao & Joseph Jankovic. (2014) The role of FUS gene variants in neurodegenerative diseases. Nature Reviews Neurology 10:6, pages 337-348.
Crossref
Crossref
Katie Nolan, Mollie R. Mitchem, Eva M. Jimenez-Mateos, David C. Henshall, Caoimhín G. Concannon & Jochen H. M. Prehn. (2014) Increased Expression of MicroRNA-29a in ALS Mice: Functional Analysis of Its Inhibition. Journal of Molecular Neuroscience 53:2, pages 231-241.
Crossref
Crossref
Sh. M. Ismailov, Yu. A. Barykova, M. M. Shmarov, V. Z. Tarantul, I. V. Barskov, V. G. Kucheryanu, L. V. Brylev, D. Yu. Logunov, I. L. Tutykhina, E. V. Bocharov, M. N. Zakharova, B. S. Narodizky & S. N. Illarioshkin. (2014) Experimental approach to the gene therapy of motor neuron disease with the use of genes hypoxia-inducible factors. Russian Journal of Genetics 50:5, pages 518-527.
Crossref
Crossref
Angelina Cistaro, Marco Pagani, Anna Montuschi, Andrea Calvo, Cristina Moglia, Antonio Canosa, Gabriella Restagno, Maura Brunetti, Bryan J. Traynor, Flavio Nobili, Giovanna Carrara, Piercarlo Fania, Leonardo Lopiano, M. Consuelo Valentini & Adriano Chiò. (2014) The metabolic signature of C9ORF72-related ALS: FDG PET comparison with nonmutated patients. European Journal of Nuclear Medicine and Molecular Imaging 41:5, pages 844-852.
Crossref
Crossref
Kevin P Kenna, Russell L McLaughlin, Susan Byrne, Marwa Elamin, Mark Heverin, Elaine M Kenny, Paul Cormican, Derek W Morris, Colette G Donaghy, Daniel G Bradley & Orla Hardiman. (2013) Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing. Journal of Medical Genetics 50:11, pages 776-783.
Crossref
Crossref
E. V. Lysogorskaia, A. V. Rossokhin, N. Yu. Abramycheva, M. N. Zakharova & S. N. Illarioshkin. (2013) SOD1 gene mutations in patients with amyotrophic lateral sclerosis: Potential of method of molecular modeling. Molecular Biology 47:5, pages 751-757.
Crossref
Crossref
Aditya K. Padhi, Suhas V. Vasaikar, Bhyravabhotla Jayaram & James Gomes. (2013) Fast prediction of deleterious angiogenin mutations causing amyotrophic lateral sclerosis. FEBS Letters 587:12, pages 1762-1766.
Crossref
Crossref
Serena Lattante, Guy A. Rouleau & Edor Kabashi. (2013)
TARDBP
and
FUS
Mutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update
. Human Mutation 34:6, pages 812-826.
Crossref
Crossref
Zhang-Yu Zou, Li-Ying Cui, Qing Sun, Xiao-Guang Li, Ming-Sheng Liu, Yan Xu, Yan Zhou & Xun-Zhe Yang. (2013) De novo FUS gene mutations are associated with juvenile-onset sporadic amyotrophic lateral sclerosis in China. Neurobiology of Aging 34:4, pages 1312.e1-1312.e8.
Crossref
Crossref
S. Waibel, M. Neumann, A. Rosenbohm, A. Birve, A. E. Volk, J. H. Weishaupt, T. Meyer, U. Müller, P. M. Andersen & A. C. Ludolph. (2012)
Truncating mutations in
FUS
/
TLS
give rise to a more aggressive
ALS
‐phenotype than missense mutations: a clinico‐genetic study in
G
ermany
. European Journal of Neurology 20:3, pages 540-546.
Crossref
Crossref
Aditya K. Padhi, Bhyravabhotla Jayaram & James Gomes. (2013) Prediction of Functional Loss of Human Angiogenin Mutants Associated with ALS by Molecular Dynamics Simulations. Scientific Reports 3:1.
Crossref
Crossref
Alfredo Ciccodicola, Maria Rosaria Ambrosio, Margherita Scarpato & Valerio Costa. (2012) Non-coding RNA in Neurodegeneration. Current Geriatrics Reports 1:4, pages 219-228.
Crossref
Crossref
Adriano ChiòAndrea CalvoLetizia MazziniRoberto CantelloGabriele MoraCristina MogliaLucia CorradoSandra D'AlfonsoElisa MajounieAlan RentonFabrizio PisanoIrene OssolaMaura BrunettiBryan J. TraynorGabriella RestagnoA. Chiò, S. Cammarosano, A. Ilardi, A. Canosa, U. Manera, D. Bertuzzo, D. Cocito, L. Durelli, B. Ferrero, A. Bertolotto, A. Mauro, M. Leone, N. Nasuelli, S. Servo, G. D. Oggioni, Alessandra Bagarotti, D. Giobbe, L. Sosso, M. Gionco, D. Leotta, L. Appendino, D. Imperiale, R. Cavallo, E. Oddenino, C. Geda, C. Geda, F. Poglio, C. Doriguzzi Bozzo, P. Santimaria, U. Massazza, A. Villani, R. Conti, F. Pisano, M. Palermo, E. Ursino, F. Vergnano, O. Sassone, P. Provera, M.T. Penza, M. Aguggia, N. Di Vito, P. Meineri, I. Pastore, P. Ghiglione, D. Seliak, C. Cavestro, G. Astegiano, G. Corso & E. Bottacchi. (2012) Extensive genetics of ALS. Neurology 79:19, pages 1983-1989.
Crossref
Crossref