Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia

IMPORTANCE: The family of genes implicated in hereditary spastic paraplegias (HSPs) is quickly expanding, mostly owing to the widespread availability of next-generation DNA sequencing methods. Nevertheless, a genetic diagnosis remains unavailable for many patients. OBJECTIVE: To identify the genetic...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:JAMA Neurol
Main Authors: Rinaldi, Carlo, Schmidt, Thomas, Situ, Alan J., Johnson, Janel O., Lee, Philip R., Chen, Ke-lian, Bott, Laura C., Fadó, Rut, Harmison, George H., Parodi, Sara, Grunseich, Christopher, Renvoisé, Benoît, Biesecker, Leslie G., De Michele, Giuseppe, Santorelli, Filippo M., Filla, Alessandro, Stevanin, Giovanni, Dürr, Alexandra, Brice, Alexis, Casals, Núria, Traynor, Bryan J., Blackstone, Craig, Ulmer, Tobias S., Fischbeck, Kenneth H.
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5612424/
https://ncbi.nlm.nih.gov/pubmed/25751282
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaneurol.2014.4769
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados