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Title
Exome sequencing in undiagnosed inherited and sporadic ataxias
Authors
Keywords
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Journal
BRAIN
Volume 138, Issue 2, Pages 276-283
Publisher
Oxford University Press (OUP)
Online
2014-12-14
DOI
10.1093/brain/awu348
References
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Related references
Note: Only part of the references are listed.- Application of whole exome sequencing in undiagnosed inherited polyneuropathies
- (2014) C. J. Klein et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
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- Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model
- (2013) Andrea H. Németh et al. BRAIN
- Comprehensive Phenotype of the p.Arg420his Allelic Form of Spinocerebellar Ataxia Type 13
- (2013) SH Subramony et al. CEREBELLUM
- Hereditary ataxias: overview
- (2013) Suman Jayadev et al. GENETICS IN MEDICINE
- Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia
- (2013) Sarah L. Sawyer et al. HUMAN MUTATION
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- (2011) Michael J. Bamshad et al. NATURE REVIEWS GENETICS
- Dindel: Accurate indel calls from short-read data
- (2010) C. A. Albers et al. GENOME RESEARCH
- Massively parallel sequencing of ataxia genes after array-based enrichment
- (2010) Alexander Hoischen et al. HUMAN MUTATION
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- Episodic Ataxia Associated With EAAT1 Mutation C186S Affecting Glutamate Reuptake
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- (2009) Daniel C. Koboldt et al. BIOINFORMATICS
- Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management
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- (2008) Daniele Ghezzi et al. AMERICAN JOURNAL OF HUMAN GENETICS
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