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Creatine kinase in the diagnosis and prognostic prediction of amyotrophic lateral sclerosis: a retrospective case-control study
Neural Regeneration Research, 2021 Creatine kinase is a muscle enzyme that has been reported at various levels in different studies involving patients with amyotrophic lateral sclerosis.Xue-Ping Chen, Qian-Qian Wei, Ru-Wei Ou, Yan-Bing Hou, Ling-Yu Zhang, Xiao-Qin Yuan, Yun-Qian Yao, De-Sheng Jia, Qian Zhang, Wei-Xue Li, Hui-Fang Shang +10 moredoaj +1 more sourceCommon and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
Nature Genetics, 2021 Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies.W. V. Rheenen, Rick A. A. van der Spek, Mark K. Bakker, J. Vugt, P. Hop, R. Zwamborn, N. D. Klein, H. Westra, O. Bakker, Patrick Deelen, Gemma L Shireby, E. Hannon, M. Moisse, D. Baird, Restuadi Restuadi, E. Dolzhenko, Annelot M. Dekker, Klara Gawor, H. Westeneng, Gijs H. P. Tazelaar, K. V. van Eijk, M. Kooyman, Ross P. Byrne, Mark A. Doherty, M. Heverin, A. A. Khleifat, A. Iacoangeli, A. Shatunov, N. Ticozzi, Johnathan Cooper-Knock, Bradley N. Smith, M. Gromicho, S. Chandran, S. Pal, K. Morrison, P. Shaw, J. Hardy, R. Orrell, M. Sendtner, Thomas Meyer, Nazlı A Başak, A. J. van der Kooi, A. Ratti, I. Fogh, C. Gellera, Giuseppe Lauria Pinter, S. Corti, Cristina Cereda, D. Sproviero, S. D'alfonso, G. Soraru', G. Siciliano, M. Filosto, A. Padovani, A. Chiò, A. Calvo, C. Moglia, M. Brunetti, A. Canosa, M. Grassano, E. Beghi, E. Pupillo, G. Logroscino, B. Nefussy, Alma Osmanovic, Angelica Nordin, Y. Lerner, Michal Zabari, M. Gotkine, R. Baloh, S. Bell, P. Vourc'h, P. Corcia, P. Couratier, S. Millecamps, V. Meininger, F. Salachas, J. M. Pardina, A. Assialioui, R. Rojas‐García, P. Dion, J. Ross, A. Ludolph, Jochen H Weishaupt, David Brenner, A. Freischmidt, G. Bensimon, A. Brice, A. Dürr, C. Payan, Safa Saker-Delye, N. Wood, S. Topp, R. Rademakers, L. Tittmann, W. Lieb, A. Franke, S. Ripke, A. Braun, J. Kraft, D. Whiteman, C. Olsen, A. Uitterlinden, A. Hofman, M. Rietschel, S. Cichon, M. Nöthen, P. Amouyel, B. Traynor, A. Singleton, Miguel Mitne Neto, Ruben J. Cauchi, R. Ophoff, M. Wiedau-Pazos, C. lomen-Hoerth, V. V. Van Deerlin, J. Grosskreutz, A. Rödiger, N. Gaur, Alexander Jörk, Tabea Barthel, Erik Theele, B. Ilse, B. Stubendorff, O. Witte, R. Steinbach, C. Hübner, C. Graff, L. Brylev, V. Fominykh, V. Demeshonok, A. Ataulina, B. Rogelj, B. Koritnik, J. Zidar, M. Ravnik-Glavač, D. Glavač, Z. Stevic, V. Drory, M. Povedano, I. Blair, M. Kiernan, Beben Benyamin, R. Henderson, S. Furlong, S. Mathers, P. Mccombe, M. Needham, S. Ngo, G. Nicholson, R. Pamphlett, D. Rowe, F. Steyn, K. Williams, K. Mather, P. Sachdev, A. Henders, L. Wallace, M. Carvalho, S. Pinto, S. Petri, Markus Weber, G. Rouleau, V. Silani, C. Curtis, G. Breen, J. Glass, Robert H. Brown, J. Landers, C. Shaw, P. Andersen, E. Groen, M. A. Es, R. Pasterkamp, Dongsheng Fan, F. Garton, A. McRae, G. Davey Smith, T. Gaunt, M. Eberle, J. Mill, R. Mclaughlin, O. Hardiman, K. Kenna, N. Wray, E. Tsai, H. Runz, L. Franke, A. Al-Chalabi, P. Damme, L. H. van den Berg, J. Veldink +191 moresemanticscholar +1 more sourceAmyotrophic Lateral Sclerosis
, 2020 Chapter to be included in the volume Pragmatic Language Disorders: Complex and Underserved Populations, Ed. Louise Cummings, Springer, 2020. It reviews findings that have contributed to our understanding of pragmatic impairment in ALS.Ceroni, Mauro, Bambini , Valentinaopenaire +6 more sourcesEarly Referral to an ALS Center Reduces Several Months the Diagnostic Delay: A Multicenter-Based Study
Frontiers in Neurology, 2020 Objective: To analyze those factors contributing to the diagnostic delay in ALS.Methods: Consecutive ALS patients were categorized as those studied in departmental hospitals and those studied in a referral ALS center.Marina Martínez-Molina, Marina Martínez-Molina, Herminia Argente-Escrig, Herminia Argente-Escrig, Margarita F. Polo, David Hervás, Marina Frasquet, Marina Frasquet, Victoria Cortés, Teresa Sevilla, Teresa Sevilla, Teresa Sevilla, Teresa Sevilla, Juan F. Vázquez-Costa, Juan F. Vázquez-Costa, Juan F. Vázquez-Costa, Juan F. Vázquez-Costa +16 moredoaj +1 more sourceAltered SOD1 maturation and post-translational modification in amyotrophic lateral sclerosis spinal cord
Brain : a journal of neurology, 2022 Aberrant self-assembly and toxicity of wild-type and mutant superoxide dismutase 1 (SOD1) has been widely examined in silico, in vitro and in transgenic animal models of amyotrophic lateral sclerosis.B. G. Trist, Sian Genoud, Stéphane Roudeau, Alexander Rookyard, Amr H. Abdeen, Veronica Cottam, D. Hare, Melanie Y. White, Jens Altvater, J. Fifita, A. Hogan, N. Grima, I. Blair, K. Kysenius, P. Crouch, A. Carmona, Yann Rufin, S. Claverol, Stijn J. M. Van Malderen, G. Falkenberg, D. Paterson, Bradley N. Smith, C. Troakes, C. Vance, C. Shaw, S. Al-Sarraj, S. Cordwell, G. Halliday, R. Ortega, K. Double +29 moresemanticscholar +1 more sourceAmyotrophic lateral sclerosis
The Lancet, 2011 Amyotrophic lateral sclerosis (ALS) is an idiopathic, fatal neurodegenerative disease of the human motor system. In this Seminar, we summarise current concepts about the origin of the disease, what predisposes patients to develop the disorder, and discuss why all cases of ALS are not the same.Kiernan, M, Vucic, S, Cheah, B, Turner, M, Eisen, A, Hardiman, O, Burrell, JR, Zoing, M +7 moreopenaire +5 more sources[Amyotrophic lateral sclerosis]. [PDF]
Nederlands tijdschrift voor tandheelkunde, 2010 Amyotrophic lateral sclerosis is one of the most severe and disabling diseases of the nervous system. Amyotrophic lateral sclerosis leads to the progressive weakening of the muscles in the arms, legs, face, mouth and trunk. The onset of the disease is insidious, starting with weakness in the hands or feet or with slurred speech.Veldink, J.H., Weikamp, J.G., Schelhaas, H.J., Berg, L.H. van den +3 more +8 more sources