Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort

NIPA1 (nonimprinted in Prader-Willi/Angelman syndrome 1) mutations are known to cause hereditary spastic paraplegia type 6, a neurodegenerative disease that phenotypically overlaps to some extent with amyotrophic lateral sclerosis (ALS). Previously, a genomewide screen for copy number variants found...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en:Neurobiol Aging
Main Authors: Tazelaar, Gijs H.P., Dekker, Annelot M., van Vugt, Joke J.F.A., van der Spek, Rick A., Westeneng, Henk-Jan, Kool, Lindy J.B.G., Kenna, Kevin P., van Rheenen, Wouter, Pulit, Sara L., McLaughlin, Russell L., Sproviero, William, Iacoangeli, Alfredo, Hübers, Annemarie, Brenner, David, Morrison, Karen E., Shaw, Pamela J., Shaw, Christopher E., Panadés, Monica Povedano, Mora Pardina, Jesus S., Glass, Jonathan D., Hardiman, Orla, Al-Chalabi, Ammar, van Damme, Philip, Robberecht, Wim, Landers, John E., Ludolph, Albert C., Weishaupt, Jochen H., van den Berg, Leonard H., Veldink, Jan H., van Es, Michael A.
Formato: Artigo
Idioma:Inglês
Publicado: 2018
Assuntos:
Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7893598/
https://ncbi.nlm.nih.gov/pubmed/30342764
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neurobiolaging.2018.09.012
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares