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Clinical and genetic features of amyotrophic lateral sclerosis patients with C9orf72 mutations

An expansion of the GGGGCC hexanucleotide in the non-coding region of C9orf72 represents the most common cause of familial amyotrophic lateral sclerosis. The objective was to describe and analyse the clinical and genetic features of amyotrophic lateral sclerosis patients with C9orf72 mutations in a...

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Detalles Bibliográficos
Autores principales: 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, Johannes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10065188/
https://www.ncbi.nlm.nih.gov/pubmed/37006326
http://dx.doi.org/10.1093/braincomms/fcad087

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