The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes
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Title
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes
Authors
Keywords
Hereditary spastic paraplegias, Ataxia, Next-generation sequencing, SNP array, CGH array
Journal
NEUROGENETICS
Volume 19, Issue 2, Pages 111-121
Publisher
Springer Nature
Online
2018-04-24
DOI
10.1007/s10048-018-0545-9
References
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Note: Only part of the references are listed.- panelcn.MOPS: Copy-number detection in targeted NGS panel data for clinical diagnostics
- (2017) Gundula Povysil et al. HUMAN MUTATION
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- (2016) Rebecca Schüle et al. ANNALS OF NEUROLOGY
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- (2016) Eleanna Kara et al. BRAIN
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- Congenital-onset spastic paraplegia in a patient with TUBB4A mutation and mild hypomyelination
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- Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing
- (2016) Kishore R Kumar et al. NEUROGENETICS
- Diffuse hypomyelination is not obligate for POLR3-related disorders
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- Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing
- (2015) David S Lynch et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Mosaic dominantTUBB4Amutation in an inbred family with complicated hereditary spastic paraplegia
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- (2014) Temistocle Lo Giudice et al. EXPERIMENTAL NEUROLOGY
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- (2014) Maha Zaki et al. NEUROPEDIATRICS
- PMCA4 (ATP2B4) Mutation in Familial Spastic Paraplegia
- (2014) Miaoxin Li et al. PLoS One
- A type I interferon signature identifies bilateral striatal necrosis due to mutations inADAR1
- (2013) John H Livingston et al. JOURNAL OF MEDICAL GENETICS
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- (2012) Amr Al-Saif et al. ANNALS OF NEUROLOGY
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- (2012) Salma M. Wakil et al. European Journal of Medical Genetics
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- (2011) Maria Laura Stromillo et al. JOURNAL OF NEUROLOGY
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- (2011) Anna Sulek et al. NEUROLOGICAL SCIENCES
- Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia
- (2010) R. Battini et al. EUROPEAN JOURNAL OF NEUROLOGY
- Four novelSPG3A/atlastinmutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra-familial variability in age of onset and complex phenotype
- (2009) BN Smith et al. CLINICAL GENETICS
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- (2008) Paola S. Denora et al. HUMAN MUTATION
- Mutations of the SPG11 gene in patients with autosomal recessive spastic paraparesis and thin corpus callosum
- (2008) M-J Lee et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
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