Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 186 Records) |
| Query Trace: Amyotrophic Lateral Sclerosis and SOD1[original query] |
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| Genotype-phenotype correlation in Tunisian patients with Amyotrophic Lateral Sclerosis. Neurobiology of aging 2022 Aug 120 27-33. Kacem Imen, Sghaier Ikram, Peverelli Silvia, Souissi Emira, Ticozzi Nicola, Gharbi Alya, Ratti Antonia, Berrechid Amina Gargouri, Silani Vincenzo, Gouider Ria |
| Fast versus slow disease progression in amyotrophic lateral sclerosis-clinical and genetic factors at the edges of the survival spectrum. Neurobiology of aging 2022 8 119 117-126. Witzel Simon, Wagner Matias, Zhao Chen, Kandler Katharina, Graf Elisabeth, Berutti Riccardo, Oexle Konrad, Brenner David, Winkelmann Juliane, Ludolph Albert |
| Exploring the phenotype of Italian patients with ALS with intermediate ATXN2 polyQ repeats. Journal of neurology, neurosurgery, and psychiatry 2022 8 93 (11): 1216-20. Chio Adriano, Moglia Cristina, Canosa Antonio, Manera Umberto, Grassano Maurizio, Vasta Rosario, Palumbo Francesca, Gallone Salvatore, Brunetti Maura, Barberis Marco, De Marchi Fabiola, Dalgard Clifton, Chia Ruth, Mora Gabriele, Iazzolino Barbara, Peotta Laura, Traynor Bryan, Corrado Lucia, D'Alfonso Sandra, Mazzini Letizia, Calvo Andr |
| Behavioral and Cognitive Phenotypes of Patients With Amyotrophic Lateral Sclerosis Carrying SOD1 Variants. Neurology 2022 8 99 (18): e2052-62. Bella Eleonora Dalla, Bersano Enrica, Bruzzone Maria Grazia, Gellera Cinzia, Pensato Viviana, Lauria Giuseppe, Consonni Moni |
| Genetic factors for survival in amyotrophic lateral sclerosis: an integrated approach combining a systematic review, pairwise and network meta-analysis. BMC medicine 2022 6 20 (1): 209. Su Wei-Ming, Gu Xiao-Jing, Duan Qing-Qing, Jiang Zheng, Gao Xia, Shang Hui-Fang, Chen Yong-Pi |
| 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, |
| 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 and Metabolic Signature of UNC13A rs12608932 Variant in Amyotrophic Lateral Sclerosis. Neurology. Genetics 2022 10 8 (6): e200033. Calvo Andrea, Canosa Antonio, Moglia Cristina, Manera Umberto, Grassano Maurizio, Vasta Rosario, Palumbo Francesca, Cugnasco Paolo, Gallone Salvatore, Brunetti Maura, De Marchi Fabiola, Arena Vincenzo, Pagani Marco, Dalgard Clifton, Scholz Sonja W, Chia Ruth, Corrado Lucia, Dalfonso Sandra, Mazzini Letizia, Traynor Bryan J, Chio Adria |
| 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 |
| 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 |
| Genetic variability in sporadic amyotrophic lateral sclerosis. Brain : a journal of neurology 2023 4 . Van Daele Sien Hilde, Moisse Matthieu, van Vugt Joke J F A, Zwamborn Ramona A J, van der Spek Rick, van Rheenen Wouter, Van Eijk Kristel, Kenna Kevin, Corcia Philippe, Vourc'h Patrick, Couratier Philippe, Hardiman Orla, McLaughin Russell, Gotkine Marc, Drory Vivian, Ticozzi Nicola, Silani Vincenzo, Ratti Antonia, de Carvalho Mamede, Mora Pardina Jesús S, Povedano Monica, Andersen Peter M, Weber Markus, Ba?ak Nazli A, Shaw Chris, Shaw Pamela J, Morrison Karen E, Landers John E, Glass Jonathan D, van Es Michael, van den Berg Leonard H, Al-Chalabi Ammar, Veldink Jan, Van Damme Phil |
| 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 |
| Somatosensory pathway dysfunction in patients with amyotrophic lateral sclerosis in a completely locked-in state. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology 2023 10 . Toshio Shimizu, Yuki Nakayama, Kentaro Hayashi, Yoko Mochizuki, Chiharu Matsuda, Michiko Haraguchi, Kota Bokuda, Takashi Komori, Kazushi Takahas |
| 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 |
| SOD1 gene screening in ALS - frequency of mutations, patients' attitudes to genetic information and transition to tofersen treatment in a multi-center program. Amyotrophic lateral sclerosis & frontotemporal degeneration 2024 9 1-10. Thomas Meyer, Peggy Schumann, Torsten Grehl, Ute Weyen, Susanne Petri, Annekathrin Rödiger, Robert Steinbach, Julian Grosskreutz, Sarah Bernsen, Patrick Weydt, Joachim Wolf, René Günther, Maximilian Vidovic, Petra Baum, Moritz Metelmann, Jochen H Weishaupt, Berthold Streubel, David C Kasper, Yasemin Koc, Dagmar Kettemann, Jenny Norden, Philipp Schmitt, Bertram Walter, Christoph Münch, Susanne Spittel, André Maier, Péter Körtvélyes |
| Cognitive deficits in ALS patients with SOD1 mutations. Journal of clinical and experimental neuropsychology 2024 9 1-14. Ivar Winroth, Arne Börjesson, Peter M Andersen, Thomas Karlss |
| Body mass index is lower in asymptomatic C9orf72 expansion carriers but not in SOD1 pathogenic variant carriers compared to gene negatives. Amyotrophic lateral sclerosis & frontotemporal degeneration 2024 8 1-8. Ikjae Lee, Mark A Garret, Joanne Wuu, Elizabeth A Harrington, James D Berry, Timothy M Miller, Matthew Harms, Michael Benatar, Neil Shneid |
| 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 |
| TARDBP Mutations in Facial-Onset Sensory and Motor Neuronopathy. Neurology. Genetics 2024 6 10 (3): e200160. Vincent Picher-Martel, Suma Babu, Anthony A Ama |
| 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 |
| Amyotrophic lateral sclerosis patients with various gene mutations show diverse motor phenotypes and survival in China. Journal of medical genetics 2024 6 . Qirui Jiang, Junyu Lin, Qianqian Wei, Tianmi Yang, Yanbing Hou, Lingyu Zhang, Ruwei Ou, Yi Xiao, Shichan Wang, Xiaoting Zheng, Chunyu Li, Huifang Sha |
| 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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