Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 180 Records) |
| Query Trace: Disease and Sod1[original query] |
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| Characterizing SOD1 mutations in Spain. The impact of genotype, age, and sex in the natural history of the disease. European journal of neurology 2022 12 . Vázquez-Costa Juan F, Borrego-Hernández Daniel, Paradas Carmen, Gómez-Caravaca María Teresa, Rojas-Garcia Ricardo, Varona Luis, Povedano Mónica, García-Sobrino Tania, Jericó Pascual Ivonne, Gutiérrez Antonio, Riancho Javier, Turon-Sans Janina, Assialioui Abdelilah, Pérez-Tur Jordi, Sevilla Teresa, Esteban Pérez Jesús, García-Redondo Alberto, |
| Genotype-phenotype characterisation of long survivors with motor neuron disease in Scotland. Journal of neurology 2022 12 . Leighton Danielle J, Ansari Morad, Newton Judith, Parry David, Cleary Elaine, Colville Shuna, Stephenson Laura, Larraz Juan, Johnson Micheala, Beswick Emily, Wong Michael, Gregory Jenna, Carod Artal Javier, Davenport Richard, Duncan Callum, Morrison Ian, Smith Colin, Swingler Robert, Deary Ian J, Porteous Mary, Aitman Timothy J, Chandran Siddharthan, Gorrie George H, Pal Suvankar, , |
| Analysis of SOD1 and C9orf72 mutations in patients with amyotrophic lateral sclerosis in Antioquia, Colombia. Biomedica : revista del Instituto Nacional de Salud 2022 12 42 (4): 623-632. Jaramillo Jimena, Solano Juan M, Aristizábal Alejandra, Martínez Julia |
| Clinical relevance of single-subject brain metabolism patterns in amyotrophic lateral sclerosis mutation carriers. NeuroImage. Clinical 2022 10 36 103222. Tondo Giacomo, Mazzini Letizia, Caminiti Silvia Paola, Sarnelli Maria Francesca, Corrado Lucia, Matheoud Roberta, D'Alfonso Sandra, Cantello Roberto, Sacchetti Gian Mauro, Perani Daniela, Comi Cristoforo, De Marchi Fabio |
| 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 |
| 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? |
| 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 |
| Risk factors of amyotrophic lateral sclerosis: a global meta-summary. Frontiers in neuroscience 2023 5 17 1177431. Qing-Qing Duan, Zheng Jiang, Wei-Ming Su, Xiao-Jing Gu, Han Wang, Yang-Fan Cheng, Bei Cao, Xia Gao, Yi Wang, Yong-Ping Ch |
| Clinical and genetic features of amyotrophic lateral sclerosis patients with C9orf72 mutations. Brain communications 2023 4 5 (2): fcad087. Wiesenfarth Maximilian, Günther Kornelia, Müller Kathrin, Witzel Simon, Weiland Ulrike, Mayer Kristina, Herrmann Christine, Brenner David, Schuster Joachim, Freischmidt Axel, Lulé Dorothée, Meyer Thomas, Regensburger Martin, Grehl Torsten, Emmer Alexander, Petri Susanne, Großkreutz Julian, Rödiger Annekathrin, Steinbach Robert, Klopstock Thomas, Reilich Peter, Schöberl Florian, Wolf Joachim, Hagenacker Tim, Weyen Ute, Zeller Daniel, Ludolph Albert C, Dorst Johann |
| Protein kinetics of superoxide dismutase-1 in familial and sporadic amyotrophic lateral sclerosis. Annals of clinical and translational neurology 2023 4 . Cindy V Ly, Margaret D Ireland, Wade K Self, James Bollinger, Jennifer Jockel-Balsarotti, Hillary Herzog, Peggy Allred, Leah Miller, Michael Doyle, Isabel Anez-Bruzual, Bhavesh Trikamji, Ted Hyman, Tyler Kung, Katherine Nicholson, Robert C Bucelli, Bruce W Patterson, Randall J Bateman, Timothy M Mill |
| Molecular Surveillance of Canine Degenerative Myelopathy in Breeding Kennels from Romania. Animals : an open access journal from MDPI 2023 4 13 (8): . Vlad Cocostîrc, Anamaria Ioana Pa?tiu, Anca-Alexandra Dobo?i, Felix Daniel Lucaci, Maria-Carmen Turcu, Mihai Marian Borzan, Dana Liana Pus |
| Lack of association of superoxide dismutase I/D variant with osteopenia/osteoporosis in Turkish postmenopausal women. Nucleosides, nucleotides & nucleic acids 2023 3 1-12. Nacar Mehmet Can, Yigit Serbule |
| SOD1-Related Cerebellar Ataxia and Motor Neuron Disease: Cp Variant as Functional Modifier? Cerebellum (London, England) 2023 2 . Marsili Luca, Davis Jennie L, Espay Alberto J, Gilthorpe Jonathan, Williams Chloe, Kauffman Marcelo A, Porollo Aleks |
| Impact of a 50bp insertion/deletion polymorphism of the superoxide dismutase-1 on oxidative stress status and risk of keratoconus. Experimental eye research 2023 12 238 109742. Mohammad-Reza Sedaghat, Hamidreza Shiri, Jalil Tavakkol-Afshari, Mohammad-Erfan Norouzmahani, Faegheh Bahri, Saba Fooladi, Hamed Momeni-Moghaddam, Zeynab Danesh, Amin Reza Nikpoor, Mohammad Amin Momeni-Moghaddam, Mohammad Hadi Nematollahi, Javad Sadeg |
| Unveiling the SOD1-mediated ALS phenotype: insights from a comprehensive meta-analysis. Journal of neurology 2023 11 . Teuta Domi, Paride Schito, Giacomo Sferruzza, Tommaso Russo, Laura Pozzi, Federica Agosta, Paola Carrera, Nilo Riva, Massimo Filippi, Angelo Quattrini, Yuri Matteo Falzo |
| Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS. medRxiv : the preprint server for health sciences 2023 10 . 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 |
| Disease survival and progression in TARDBP ALS patients from Sardinia, Italy. Journal of neurology 2023 10 . Giuseppe Borghero, Francesca Pili, Antonella Muroni, Tommaso Ercoli, Maria Ida Pateri, Silvy Pilotto, Alessandra Maccabeo, Giovanni Defaz |
| Genotypic and Allelic Frequencies of Degenerative Myelopathy in an Italian Canine Population. Animals : an open access journal from MDPI 2024 9 14 (18): . Sara Ghilardi, Giulietta Minozzi, Maria Grazia De Iorio, Camilla Gonzi, Stefano Frattini, Mara Bagardi, Paola G Brambilla, Alessandra Paganelli, Michele Pol |
| 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 |
| Genetic Variations in the Antioxidant Genes and their Role in Modulating Susceptibility Towards Chronic Obstructive Pulmonary Disease in the North Indian population. Free radical biology & medicine 2024 8 . Heena Kansal, Vishal Chopra, Kranti Garg, Siddharth Shar |
| 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 |
| Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS. BMC genomics 2024 7 25 (1): 651. 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 |
| Genotypes and phenotypes of motor neuron disease: an update of the genetic landscape in Scotland. Journal of neurology 2024 6 . Danielle J Leighton, Morad Ansari, Judith Newton, Elaine Cleary, Laura Stephenson, Emily Beswick, Javier Carod Artal, Richard Davenport, Callum Duncan, George H Gorrie, Ian Morrison, Robert Swingler, Ian J Deary, Mary Porteous, Siddharthan Chandran, Suvankar Pal, |
| Clinical and genetic characteristics of 1672 cases of amyotrophic lateral sclerosis in China: a single-center retrospective study. Journal of neurology 2024 6 . Dongchao Shen, Xunzhe Yang, Di He, Kang Zhang, Shuangwu Liu, Xiaohan Sun, Jinyue Li, Zhengyi Cai, Mingsheng Liu, Xue Zhang, Qing Liu, Liying C |
| Association of SOD1 gene variants (50 bp Ins/Del, rs4817415, rs2070424, rs1041740, rs17880135) with plasma protein levels in vitiligo patients and their analysis in silico. European review for medical and pharmacological sciences 2024 4 28 (6): 2464-2482. B C Gómez-Meda, G M Zúñiga-González, L D Bañuelos-Díaz, M P Oceguera-Angel, A Galindo-Gómez, M G Sánchez-Parada, A F Garibaldi-Ríos, B M Torres-Mendoza, A L Zamora-Perez, J I Delgado-Saucedo, M G Márquez-Rosales, M P Gallegos-Arreo |
| Genetic epidemiology of amyotrophic lateral sclerosis in Cyprus: a population-based study. Scientific reports 2024 12 14 (1): 30781. Ellie Mitsi, Christina Votsi, Pantelitsa Koutsou, Anthi Georghiou, Christiana C Christodoulou, Kleopas Kleopa, Eleni Zamba-Papanicolaou, Kyproula Christodoulou, Paschalis Nicola |
| Clinical characterization and founder effect analysis in Chinese amyotrophic lateral sclerosis patients with SOD1 common variants. Annals of medicine 2024 10 56 (1): 2407522. Pei-Shan Wang, Xin-Xia Yang, Qiao Wei, Yong-Ting Lv, Zhi-Ying Wu, Hong-Fu |
| 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
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