Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes
Author:
Funder
Garvan Institute of Medical Research
Publisher
Elsevier BV
Subject
Neurology (clinical),Geriatrics and Gerontology,Neurology
Reference30 articles.
1. Phenomenology and classification of dystonia: a consensus update;Albanese;Mov. Disord.,2013
2. Assessment of a targeted gene panel for identification of genes associated with movement disorders;Montaut;JAMA Neurol,2018
3. Targeted gene capture sequencing in diagnosis of dystonia patients;Ma;J. Neurol. Sci.,2018
4. Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls;Zech;Mov. Disord.,2014
5. Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up;Zech;Mov. Disord.,2017
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