Human Genome Epidemiology Literature Finder
Records 1 - 15 (of 15 Records) |
Query Trace: Disease Progression and SOD1[original query] |
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DNA sequence analysis of the conserved region around the SOD1 gene locus in recessively inherited ALS. Neuroscience letters 2009 Jul . Broom WJ, Johnson DV, Garber M, Andersen PM, Lennon N, Landers J, Nusbaum C, Russ C, Brown RH |
Lack of unique neuropathology in amyotrophic lateral sclerosis associated with p.K54E angiogenin (ANG) mutation. Neuropathology and applied neurobiology 2013 Aug 39 (5): 562-71. Kirby J, Highley J R, Cox L, Goodall E F, Hewitt C, Hartley J A, Hollinger H C, Fox M, Ince P G, McDermott C J, Shaw P |
HFE p.H63D polymorphism does not influence ALS phenotype and survival. Neurobiology of aging 2015 Oct 36 (10): 2906.e7-2906.e11. Chiò Adriano, Mora Gabriele, Sabatelli Mario, Caponnetto Claudia, Lunetta Christian, Traynor Bryan J, Johnson Janel O, Nalls Mike A, Calvo Andrea, Moglia Cristina, Borghero Giuseppe, Monsurrò Maria Rosaria, La Bella Vincenzo, Volanti Paolo, Simone Isabella, Salvi Fabrizio, Logullo Francesco O, Nilo Riva, Giannini Fabio, Mandrioli Jessica, Tanel Raffaella, Murru Maria Rita, Mandich Paola, Zollino Marcella, Conforti Francesca L, Penco Silvana, , , Brunetti Maura, Barberis Marco, Restagno Gabriel |
Plasma microRNA miR-26b as a potential diagnostic biomarker of degenerative myelopathy in Pembroke welsh corgis. BMC veterinary research 2019 6 15 (1): 192. Nakata Kohei, Heishima Kazuki, Sakai Hiroki, Yamato Osamu, Furusawa Yu, Nishida Hidetaka, Maeda Sadatoshi, Kamishina Hiroa |
Genotype-phenotype correlations in a chinese population with familial amyotrophic lateral sclerosis. Neurological research 2021 8 44 (3): 206-216. Liu WenChao, Li XiaoGang, Sun Yan, Yu XiaoTong, Wang Yan, Liu Na, Deng M |
SOD1 D91A variant in the southernmost tip of Europe: a heterozygous ALS patient resident on the island of Gozo. European journal of human genetics : EJHG 2021 10 30 (7): 856-859. Farrugia Wismayer Maia, Farrugia Wismayer Andrew, Pace Adrian, Vassallo Neville, Cauchi Ruben |
Mutation-specific metabolic profiles in presymptomatic amyotrophic lateral sclerosis. European journal of neurology 2022 9 30 (1): 87-95. Xia Kailin, Witzel Simon, Witzel Christina, Klose Veronika, Fan Dongsheng, Ludolph Albert C, Dorst Johann |
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 |
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 |
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, |
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 |
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 |
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- Page last updated:Apr 16, 2024
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