Published in
Oxford University Press (OUP), Brain, 2(138), p. 276-283
DOI: 10.1093/brain/awu348
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Exome sequencing in undiagnosed inherited and sporadic ataxias
Journal article published in 2014 by
Angela Pyle,
Tania Smertenko,
David Bargiela,
Helen Griffin 
,
Jennifer Duff,
Marie Appleton,
Konstantinos Douroudis,
Gerald Pfeffer,
Mauro Santibanez-Koref,
Gail Eglon,
Patrick Yu-Wai-Man,
Venkateswaran Ramesh,
Rita Horvath ,
Patrick F. Chinnery
,
Jennifer Duff,
Marie Appleton,
Konstantinos Douroudis,
Gerald Pfeffer,
Mauro Santibanez-Koref,
Gail Eglon,
Patrick Yu-Wai-Man,
Venkateswaran Ramesh,
Rita Horvath ,
Patrick F. Chinnery
This paper is made freely available by the publisher.
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Abstract
Inherited ataxias are difficult to diagnose genetically. Pyle et al. use whole-exome sequencing to provide a likely molecular diagnosis in 14 of 22 families with ataxia. The approach reveals de novo mutations, broadens the phenotype of other disease genes, and is equally effective in young and older-onset patients.