De novo mutations in SOD1 are a cause of ALS

OBJECTIVE: The only identified cause of amyotrophic lateral sclerosis (ALS) are mutations in a number of genes found in familial cases but also in sporadic cases. De novo mutations occurring in a parental gonadal cell, in the zygote or postzygotic during embryonal development can result in an appare...

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Detalles Bibliográficos
Autores principales: Müller, Kathrin, Oh, Ki-Wook, Nordin, Angelica, Panthi, Sudhan, Kim, Seung Hyun, Nordin, Frida, Freischmidt, Axel, Ludolph, Albert C, Ki, Chang Seok, Forsberg, Karin, Weishaupt, Jochen, Kim, Young-Eun, Andersen, Peter Munch
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Neurogenetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8784989/
https://www.ncbi.nlm.nih.gov/pubmed/34518333
http://dx.doi.org/10.1136/jnnp-2021-327520

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8784989/
https://www.ncbi.nlm.nih.gov/pubmed/34518333
http://dx.doi.org/10.1136/jnnp-2021-327520

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