Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot–Marie–Tooth neuropathy and a mutation in HSPB1
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Title
Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot–Marie–Tooth neuropathy and a mutation in HSPB1
Authors
Keywords
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Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 22, Issue 4, Pages 522-527
Publisher
Springer Nature
Online
2013-08-21
DOI
10.1038/ejhg.2013.190
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Note: Only part of the references are listed.- Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland
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- (2012) Anna-Karin Persson et al. ANNALS OF NEUROLOGY
- Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth Disease
- (2012) Byung-Ok Choi et al. HUMAN MUTATION
- Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease
- (2011) Michael N. Weedon et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Charcot-marie-tooth disease subtypes and genetic testing strategies
- (2011) Anita S.D. Saporta et al. ANNALS OF NEUROLOGY
- Gain of function NaV1.7 mutations in idiopathic small fiber neuropathy
- (2011) Catharina G. Faber et al. ANNALS OF NEUROLOGY
- Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV
- (2011) Jarupon Fah Sathirapongsasuti et al. BIOINFORMATICS
- Axonal Charcot–Marie–Tooth disease
- (2011) Michael E. Shy et al. CURRENT OPINION IN NEUROLOGY
- Intra- and Interfamily Phenotypic Diversity in Pain Syndromes Associated with a Gain-of-Function Variant of NaV1.7
- (2011) Mark Estación et al. Molecular Pain
- Comparison of solution-based exome capture methods for next generation sequencing
- (2011) Anna-Maija Sulonen et al. GENOME BIOLOGY
- MFN2point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families
- (2010) Geir J Braathen et al. BMC Medical Genetics
- Update on Charcot-Marie-Tooth Disease
- (2010) Ágnes Patzkó et al. Current Neurology and Neuroscience Reports
- Genetic epidemiology of Charcot-Marie-Tooth in the general population
- (2010) G. J. Braathen et al. EUROPEAN JOURNAL OF NEUROLOGY
- Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy
- (2010) James R. Lupski et al. NEW ENGLAND JOURNAL OF MEDICINE
- Charcot–Marie–Tooth disease
- (2009) Kinga Szigeti et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Prohibitins and the functional compartmentalization of mitochondrial membranes
- (2009) C. Osman et al. JOURNAL OF CELL SCIENCE
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