(Q33915530)

30 July 2017

title

Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients (English)

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30 July 2017

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8

Ludger Schöls

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30 July 2017

N A Schlipf

1

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30 July 2017

R Schüle

2

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30 July 2017

S Klimpe

3

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30 July 2017

K N Karle

4

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30 July 2017

M Synofzik

5

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30 July 2017

J Schicks

6

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30 July 2017

O Riess

7

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P Bauer

9

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publication date

13 June 2011

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30 July 2017

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30 July 2017

volume

80

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30 July 2017

issue

2

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30 July 2017

page(s)

148-160

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Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

30 July 2017

cites work

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https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01715.X

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Hereditary spastic paraplegias: an update

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Recent advances in the genetics of spastic paraplegias

21 January 2018

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A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42)

21 January 2018

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Evaluation of human gene variant detection in amplicon pools by the GS-FLX parallel Pyrosequencer

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A 454 multiplex sequencing method for rapid and reliable genotyping of highly polymorphic genes in large-scale studies

21 January 2018

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Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration

21 January 2018

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Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

21 January 2018

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The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity.

21 January 2018

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CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.

21 January 2018

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A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia

21 January 2018

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A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects

21 January 2018

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Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01715.X

Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01715.X

Massively parallel sequencing of ataxia genes after array-based enrichment

21 January 2018

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Next generation sequencing for clinical diagnostics-principles and application to targeted resequencing for hypertrophic cardiomyopathy: a paper from the 2009 William Beaumont Hospital Symposium on Molecular Pathology

21 January 2018

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Statistical aspects of discerning indel-type structural variation via DNA sequence alignment

21 January 2018

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Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

21 January 2018

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Multiplex amplification of large sets of human exons

21 January 2018

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Accurate multiplex polony sequencing of an evolved bacterial genome

21 January 2018

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Strategy for robust detection of insertions, deletions, and point mutations in CEBPA, a GC-rich content gene, using 454 next-generation deep-sequencing technology

21 January 2018

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Simultaneous mutation and copy number variation (CNV) detection by multiplex PCR-based GS-FLX sequencing.

21 January 2018

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Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01715.X

Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01715.X

Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01715.X

White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01715.X

A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01715.X

10.1111/J.1399-0004.2011.01715.X

21 January 2018

Identifiers

DOI

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30 July 2017

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