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Article

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

Brain : a journal of neurology - 1 Oct 2013

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

Abstract excerpt

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-generation sequencing promises to revolutionize genetic testing and shorten the 'diagnostic odyssey' for many of...

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Source

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Identifiers

PMID: 24030952
DOI: 10.1093/brain/awt236
PMCID: PMC3784284

Genes

DARS2
KCNC3
MRE11
PRKCG
SACS
SETX
SPTBN2
TTBK2

Provenance

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