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Review

The genetics of amyotrophic lateral sclerosis: current insights

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Pages 49-64 | Published online: 13 May 2016

Keep up to date with the latest research on this topic with citation updates for this article.

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Paolo Niccolò Doronzio, Serena Lattante, Giuseppe Marangi, Francesco Martello, Amelia Conte, Giulia Bisogni, Daniela Bernardo, Agata Katia Patanella, Emiliana Meleo, Marcella Zollino & Mario Sabatelli. (2023) Analysis of STMN2 CA repeats in italian ALS patients shows no association. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 24:1-2, pages 152-154.
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Gabriel Pinilla, Anupama Kumar, Mary Kay Floaters, Carlos A. Pardo, Jeffrey Rothstein & Hristelina Ilieva. (2021) Increased synthesis of pro-inflammatory cytokines in C9ORF72 patients. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 22:7-8, pages 517-527.
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Goun Je, Kiandokht Keyhanian & Mehdi Ghasemi. (2021) Overview of stem cells therapy in amyotrophic lateral sclerosis. Neurological Research 43:8, pages 616-632.
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Yueh-Lin Tsai & James L. Manley. (2021) Multiple ways to a dead end: diverse mechanisms by which ALS mutant genes induce cell death. Cell Cycle 20:7, pages 631-646.
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Magdalena Kuźma-Kozakiewicz, Peter M. Andersen, Elahe Elahi, Afagh Alavi, Peter C. Sapp, Mitsuya Morita, Cezary Żekanowski & Mariusz Berdyński. (2021) Putative founder effect in the Polish, Iranian and United States populations for the L144S SOD1 mutation associated with slowly uniform phenotype of amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 22:1-2, pages 80-85.
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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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Articles from other publishers (29)

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Mikayla L. Brown, Luke McAlary, Jeremy S. Lum, Natalie E. Farrawell & Justin J. Yerbury. (2022) Cells Overexpressing ALS-Associated SOD1 Variants Are Differentially Susceptible to CuATSM-Associated Toxicity. ACS Chemical Neuroscience 13:16, pages 2371-2379.
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Frank W. Pun, Bonnie Hei Man Liu, Xi Long, Hoi Wing Leung, Geoffrey Ho Duen Leung, Quinlan T. Mewborne, Junli Gao, Anastasia Shneyderman, Ivan V. Ozerov, Ju Wang, Feng Ren, Alexander Aliper, Evelyne Bischof, Evgeny Izumchenko, Xiaoming Guan, Ke Zhang, Bai Lu, Jeffrey D. Rothstein, Merit E. Cudkowicz & Alex Zhavoronkov. (2022) Identification of Therapeutic Targets for Amyotrophic Lateral Sclerosis Using PandaOmics – An AI-Enabled Biological Target Discovery Platform. Frontiers in Aging Neuroscience 14.
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Elisa Perciballi, Federica Bovio, Jessica Rosati, Federica Arrigoni, Angela D’Anzi, Serena Lattante, Maurizio Gelati, Fabiola De Marchi, Ivan Lombardi, Giorgia Ruotolo, Matilde Forcella, Letizia Mazzini, Sandra D’Alfonso, Lucia Corrado, Mario Sabatelli, Amelia Conte, Luca De Gioia, Sabata Martino, Angelo Luigi Vescovi, Paola Fusi & Daniela Ferrari. (2022) Characterization of the p.L145F and p.S135N Mutations in SOD1: Impact on the Metabolism of Fibroblasts Derived from Amyotrophic Lateral Sclerosis Patients. Antioxidants 11:5, pages 815.
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Niccolò Candelise, Illari Salvatori, Silvia Scaricamazza, Valentina Nesci, Henri Zenuni, Alberto Ferri & Cristiana Valle. (2022) Mechanistic Insights of Mitochondrial Dysfunction in Amyotrophic Lateral Sclerosis: An Update on a Lasting Relationship. Metabolites 12:3, pages 233.
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Orietta Pansarasa, Maria Garofalo, Eveljn Scarian, Francesca Dragoni, Jessica Garau, Rosalinda Di Gerlando, Luca Diamanti, Matteo Bordoni & Stella Gagliardi. (2022) Biomarkers in Human Peripheral Blood Mononuclear Cells: The State of the Art in Amyotrophic Lateral Sclerosis. International Journal of Molecular Sciences 23:5, pages 2580.
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Liaisan Arslanbaeva & Marco Bisaglia. (2022) Activation of the Nrf2 Pathway as a Therapeutic Strategy for ALS Treatment. Molecules 27:5, pages 1471.
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Oluwamolakun Bankole, Ilaria Scambi, Edoardo Parrella, Matilde Muccilli, Roberta Bonafede, Ermanna Turano, Marina Pizzi & Raffaella Mariotti. (2022) Beneficial and Sexually Dimorphic Response to Combined HDAC Inhibitor Valproate and AMPK/SIRT1 Pathway Activator Resveratrol in the Treatment of ALS Mice. International Journal of Molecular Sciences 23:3, pages 1047.
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Basak Aru, Turkay Simsek, Burcu Ormeci, Gizem Gurel, Katarina Milićević, Lidija Radenović, Pavle Andjus & Gulderen Yanikkaya Demirel. (2022) Immunoglobulin G isolation by fast protein liquid chromatography (FPLC): Method validation and implementation in patients with amyotrophic lateral sclerosis – a preliminary study. Open Research Europe 2, pages 93.
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Sweta Shah, Marc Marie Dooms, Sofia Amaral-Garcia & Mariana Igoillo-Esteve. (2021) Current Drug Repurposing Strategies for Rare Neurodegenerative Disorders. Frontiers in Pharmacology 12.
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Sharifah Anoar, Nathaniel S. Woodling & Teresa Niccoli. (2021) Mitochondria Dysfunction in Frontotemporal Dementia/Amyotrophic Lateral Sclerosis: Lessons From Drosophila Models. Frontiers in Neuroscience 15.
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Sun Hwa Lee, Mudan Cai & Eun Jin Yang. (2021) Anti-inflammatory Effects of a Novel Herbal Extract in the Muscle and Spinal Cord of an Amyotrophic Lateral Sclerosis Animal Model. Frontiers in Neuroscience 15.
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Phuong H. Nguyen, Ayyalusamy Ramamoorthy, Bikash R. Sahoo, Jie Zheng, Peter Faller, John E. Straub, Laura Dominguez, Joan-Emma Shea, Nikolay V. Dokholyan, Alfonso De Simone, Buyong Ma, Ruth Nussinov, Saeed Najafi, Son Tung Ngo, Antoine Loquet, Mara ChiricottoPritam Ganguly, James McCarty, Mai Suan Li, Carol Hall, Yiming Wang, Yifat Miller, Simone Melchionna, Birgit Habenstein, Stepan Timr, Jiaxing Chen, Brianna Hnath, Birgit Strodel, Rakez Kayed, Sylvain Lesné, Guanghong Wei, Fabio Sterpone, Andrew J. Doig & Philippe Derreumaux. (2021) Amyloid Oligomers: A Joint Experimental/Computational Perspective on Alzheimer’s Disease, Parkinson’s Disease, Type II Diabetes, and Amyotrophic Lateral Sclerosis. Chemical Reviews 121:4, pages 2545-2647.
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Ali Yousefian-Jazi, YunHee Seol, Jieun Kim, Hannah L. Ryu, Junghee Lee & Hoon Ryu. (2020) Pathogenic Genome Signatures That Damage Motor Neurons in Amyotrophic Lateral Sclerosis. Cells 9:12, pages 2687.
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Giovanna Morello, Salvatore Salomone, Velia D’Agata, Francesca Luisa Conforti & Sebastiano Cavallaro. (2020) From Multi-Omics Approaches to Precision Medicine in Amyotrophic Lateral Sclerosis. Frontiers in Neuroscience 14.
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Georgia Dermentzaki & Francesco Lotti. (2020) New Insights on the Role of N6-Methyladenosine RNA Methylation in the Physiology and Pathology of the Nervous System. Frontiers in Molecular Biosciences 7.
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Junling Wang. 2020. Novel Aspects on Motor Neuron Disease. Novel Aspects on Motor Neuron Disease.
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Débora Lanznaster, Charlotte Veyrat-Durebex, Patrick Vourc’h, Christian R. Andres, Hélène Blasco & Philippe Corcia. (2020) Metabolomics: A Tool to Understand the Impact of Genetic Mutations in Amyotrophic Lateral Sclerosis. Genes 11:5, pages 537.
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Rita Mejzini, Loren L. Flynn, Ianthe L. Pitout, Sue Fletcher, Steve D. Wilton & P. Anthony Akkari. (2019) ALS Genetics, Mechanisms, and Therapeutics: Where Are We Now?. Frontiers in Neuroscience 13.
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Sophie Foggin, Raquel Mesquita-Ribeiro, Federico Dajas-Bailador & Rob Layfield. (2019) Biological Significance of microRNA Biomarkers in ALS—Innocent Bystanders or Disease Culprits?. Frontiers in Neurology 10.
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Barry W. Festoff & Bruce A. Citron. (2019) Thrombin and the Coag-Inflammatory Nexus in Neurotrauma, ALS, and Other Neurodegenerative Disorders. Frontiers in Neurology 10.
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Marina Iridoy, Irene Zubiri, María Zelaya, Leyre Martinez, Karina Ausín, Mercedes Lachen-Montes, Enrique Santamaría, Joaquín Fernandez-Irigoyen & Ivonne Jericó. (2018) Neuroanatomical Quantitative Proteomics Reveals Common Pathogenic Biological Routes between Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD). International Journal of Molecular Sciences 20:1, pages 4.
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Lorenzo Schiaffino, Roberta Bonafede, Ilaria Scambi, Edoardo Parrella, Marina Pizzi & Raffaella Mariotti. (2018) Acetylation state of RelA modulated by epigenetic drugs prolongs survival and induces a neuroprotective effect on ALS murine model. Scientific Reports 8:1.
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Bozenna Kuraszkiewicz, Teresa Podsiadły-Marczykowska, Hanna Goszczyńska & Maria Piotrkiewicz. (2018) Are There Modifiable Environmental Factors Related to Amyotrophic Lateral Sclerosis?. Frontiers in Neurology 9.
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Andrea Markovinovic, Raffaello Cimbro, Tereza Ljutic, Jasna Kriz, Boris Rogelj & Ivana Munitic. (2017) Optineurin in amyotrophic lateral sclerosis: Multifunctional adaptor protein at the crossroads of different neuroprotective mechanisms. Progress in Neurobiology 154, pages 1-20.
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