Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by progressive upper and lower motor neuron (LMN) loss. As ALS and other neurodegenerative diseases share genetic risk factors, we performed whole-exome sequencing in ALS patients focusing our analysis on genes i...

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Detalles Bibliográficos
Autores principales: Osmanovic, Alma, Gogol, Isabel, Martens, Helge, Widjaja, Maylin, Müller, Kathrin, Schreiber-Katz, Olivia, Feuerhake, Friedrich, Langhans, Claus-Dieter, Schmidt, Gunnar, Andersen, Peter M., Ludolph, Albert C., Weishaupt, Jochen H., Brand, Frank, Petri, Susanne, Weber, Ruthild G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8774751/
https://www.ncbi.nlm.nih.gov/pubmed/35052424
http://dx.doi.org/10.3390/genes13010084

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8774751/
https://www.ncbi.nlm.nih.gov/pubmed/35052424
http://dx.doi.org/10.3390/genes13010084

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