Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis

Therapy of motoneuron diseases entered a new phase with the use of intrathecal antisense oligonucleotide therapies treating patients with specific gene mutations predominantly in the context of familial amyotrophic lateral sclerosis. With the majority of cases being sporadic, we conducted a cohort s...

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Detalles Bibliográficos
Autores principales: Ruf, Wolfgang P, Boros, Matej, Freischmidt, Axel, Brenner, David, Grozdanov, Veselin, de Meirelles, Joao, Meyer, Thomas, Grehl, Torsten, Petri, Susanne, Grosskreutz, Julian, Weyen, Ute, Guenther, Rene, Regensburger, Martin, Hagenacker, Tim, Koch, Jan C, Emmer, Alexander, Roediger, Annekathrin, Steinbach, Robert, Wolf, Joachim, Weishaupt, Jochen H, Lingor, Paul, Deschauer, Marcus, Cordts, Isabell, Klopstock, Thomas, Reilich, Peter, Schoeberl, Florian, Schrank, Berthold, Zeller, Daniel, Hermann, Andreas, Knehr, Antje, Günther, Kornelia, Dorst, Johannes, Schuster, Joachim, Siebert, Reiner, Ludolph, Albert C, Müller, Kathrin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10202555/
https://www.ncbi.nlm.nih.gov/pubmed/37223130
http://dx.doi.org/10.1093/braincomms/fcad152

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