Citations (14)
Keep up to date with the latest research on this topic with citation updates for this article.
Read on this site (3)
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.
Read now
Read now
Claudia Ricci, Fabio Giannini, Enrica Intini & Stefania Battistini. (2019) Genotype–phenotype correlation and evidence for a common ancestor in two Italian ALS patients with the D124G SOD1 mutation. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 20:7-8, pages 611-614.
Read now
Read now
Mariusz Berdyński, Magdalena Kuźma-Kozakiewicz, Claudia Ricci, Justyna Kubiszewska, Stéphanie Millecamps, François Salachas, Anna Łusakowska, Paola Carrera, Vincent Meininger, Stefania Battistini, Hubert Kwieciński & Cezary Żekanowski. (2012) Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family. Amyotrophic Lateral Sclerosis 13:1, pages 132-136.
Read now
Read now
Articles from other publishers (11)
Ilaria Martinelli, Elisabetta Zucchi, Cecilia Simonini, Giulia Gianferrari, Giovanna Zamboni, Marcello Pinti & Jessica Mandrioli. (2023) The landscape of cognitive impairment in superoxide dismutase 1-amyotrophic lateral sclerosis. Neural Regeneration Research 18:7, pages 1427.
Crossref
Crossref
Fanxi Xu, Sen Huang, Xu-Ying Li, Jianing Lin, Xiuli Feng, Shu Xie, Zhanjun Wang, Xian Li, Junge Zhu, Hong Lai, Yanming Xu, Xusheng Huang, Xiaoli Yao & Chaodong Wang. (2022) Identification of TARDBP Gly298Ser as a founder mutation for amyotrophic lateral sclerosis in Southern China. BMC Medical Genomics 15:1.
Crossref
Crossref
André D. J. Mckenzie, Taylor R. Garrett, Eryn L. Werry & Michael Kassiou. (2022)
Purinergic P2X
7
Receptor: A Therapeutic Target in Amyotrophic Lateral Sclerosis
. ACS Chemical Neuroscience 13:10, pages 1479-1490.
Crossref
Crossref
Xinmei Wen, Wenjia Zhu, Nan L. Xia, Qianwen Li, Li Di, Shu Zhang, Hai Chen, Yan Lu, Min Wang, Min Xu, Suobin Wang, Xin-Ming Shen, Jie Lu & Yuwei Da. (2021) Missense Mutations of Codon 116 in the SOD1 Gene Cause Rapid Progressive Familial ALS and Predict Short Viability With PMA Phenotype. Frontiers in Genetics 12.
Crossref
Crossref
Claudia Ricci, Fabio Giannini, Giulia Riolo, Silvia Bocci, Stefania Casali & Stefania Battistini. (2021) A Novel Variant in Superoxide Dismutase 1 Gene (p.V119M) in Als Patients with Pure Lower Motor Neuron Presentation. Genes 12:10, pages 1544.
Crossref
Crossref
Owen Connolly, Laura Le Gall, Gavin McCluskey, Colette G Donaghy, William J Duddy & Stephanie Duguez. (2020) A Systematic Review of Genotype–Phenotype Correlation across Cohorts Having Causal Mutations of Different Genes in ALS. Journal of Personalized Medicine 10:3, pages 58.
Crossref
Crossref
Nikolay A. Alemasov, Nikita V. Ivanisenko, Srinivasan Ramachandran & Vladimir A. Ivanisenko. (2018) Molecular mechanisms underlying the impact of mutations in SOD1 on its conformational properties associated with amyotrophic lateral sclerosis as revealed with molecular modelling. BMC Structural Biology 18:S1.
Crossref
Crossref
Ivan V. Marjanović, Biljana Selak-Djokić, Stojan Perić, Milena Janković, Vladimir Arsenijević, Ivana Basta, Dragana Lavrnić, Elka Stefanova & Zorica Stević. (2017) Comparison of the clinical and cognitive features of genetically positive ALS patients from the largest tertiary center in Serbia. Journal of Neurology 264:6, pages 1091-1098.
Crossref
Crossref
Simran J. Kaur, Stephanie R. McKeown & Shazia Rashid. (2016) Mutant SOD1 mediated pathogenesis of Amyotrophic Lateral Sclerosis. Gene 577:2, pages 109-118.
Crossref
Crossref
Mahdi Ghani, Anthony E. Lang, Lorne Zinman, Benedetta Nacmias, Sandro Sorbi, Valentina Bessi, Andrea Tedde, Maria Carmela Tartaglia, Ezequiel I. Surace, Christine Sato, Danielle Moreno, Zhengrui Xi, Rachel Hung, Mike A. Nalls, Andrew Singleton, Peter St George-Hyslop & Ekaterina Rogaeva. (2015) Mutation analysis of patients with neurodegenerative disorders using NeuroX array. Neurobiology of Aging 36:1, pages 545.e9-545.e14.
Crossref
Crossref
S. H. Subramony, Tetsuo Ashizawa, Leigh Langford, Robert Mckenna, Balu Avvaru, Teepu Siddique & V. Vedanarayanan. (2011) Confirmation of the severe phenotypic effect of serine at codon 41 of the superoxide dismutase 1 gene. Muscle & Nerve 44:4, pages 499-502.
Crossref
Crossref