Ontology highlight
ABSTRACT:
SUBMITTER: Castro-Fernandez C
PROVIDER: S-EPMC4745395 | biostudies-literature | 2015 Jun
REPOSITORIES: biostudies-literature
Castro-Fernández Cristina C Arias Manuel M Blanco-Arias Patricia P Santomé-Collazo Luis L Amigo Jorge J Carracedo Ángel Á Sobrido Maria-Jesús MJ
Applied & translational genomics 20150626
Next generation sequencing (NGS) is transforming the diagnostic approach for neurological disorders, since it allows simultaneous analysis of hundreds of genes, even based on just a broad, syndromic patient categorization. However, such an approach bears a high risk of incidental and uncertain genetic findings. We report a patient with spastic paraplegia whose comprehensive neurological and imaging examination raised a high clinical suspicion of SPG11. Thus, although our NGS pipeline for this gr ...[more]