Cargando…
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...
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 |
Ejemplares similares
-
Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis
por: Ruf, Wolfgang P, et al.
Publicado: (2023) -
ALSFRS-R-SE: an adapted, annotated, and self-explanatory version of the revised amyotrophic lateral sclerosis functional rating scale
por: Maier, André, et al.
Publicado: (2022) -
Structural and microstructural neuroimaging signature of C9orf72-associated ALS: A multiparametric MRI study
por: Wiesenfarth, Maximilian, et al.
Publicado: (2023) -
Use and subjective experience of the impact of motor-assisted movement exercisers in people with amyotrophic lateral sclerosis: a multicenter observational study
por: Maier, André, et al.
Publicado: (2022) -
Symptomatic pharmacotherapy in ALS: data analysis from a platform-based medication management programme
por: Meyer, Thomas, et al.
Publicado: (2020)