Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

Many neurological conditions are caused by immensely heterogeneous gene mutations. The diagnostic process is often long and complex with most patients undergoing multiple invasive and costly investigations without ever reaching a conclusive molecular diagnosis. The advent of massively parallel, next...

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Detalles Bibliográficos
Autores principales: Németh, Andrea H., Kwasniewska, Alexandra C., Lise, Stefano, Parolin Schnekenberg, Ricardo, Becker, Esther B. E., Bera, Katarzyna D., Shanks, Morag E., Gregory, Lorna, Buck, David, Zameel Cader, M., Talbot, Kevin, de Silva, Rajith, Fletcher, Nicholas, Hastings, Rob, Jayawant, Sandeep, Morrison, Patrick J., Worth, Paul, Taylor, Malcolm, Tolmie, John, O’Regan, Mary, Valentine, Ruth, Packham, Emily, Evans, Julie, Seller, Anneke, Ragoussis, Jiannis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2013
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3784284/
https://www.ncbi.nlm.nih.gov/pubmed/24030952
http://dx.doi.org/10.1093/brain/awt236

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3784284/
https://www.ncbi.nlm.nih.gov/pubmed/24030952
http://dx.doi.org/10.1093/brain/awt236

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