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

<p>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 paral...

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Détails bibliographiques
Auteurs principaux:	Németh, A, Jiannis Ragoussis, Kwasniewska, A, Lise, S, Schnekenberg, R, Becker, E, Bera, K, Shanks, M, Gregory, L, Buck, D, Cader, M, Talbot, K, de Silva, R, Fletcher, N, Hastings, R, Jayawant, S, Morrison, P, Worth, P, Taylor, M, Tolmie, J, O’Regan, M, Valentine, R, Packham, E, Evans, J, Seller, A
Format:	Journal article
Langue:	English
Publié:	Oxford University Press 2013
Sujets:	Neuroscience Medical sciences Neurology

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

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