(Q54516202)

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Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization.

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18787847%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18787847%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

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14 January 2020

2

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14 January 2020

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Olaf Riess

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14 January 2020

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Ludger Schöls

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14 January 2020

Rebecca Schüle

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Rebecca Schüle

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14 January 2020

Jürgen Winkler

12

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Jürgen Winkler

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14 January 2020

6

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Ute Hehr

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14 January 2020

author name string

Peter Bauer

1

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14 January 2020

Claudia Bauer

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14 January 2020

Veronika Häfele

5

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14 January 2020

Michael Bonin

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14 January 2020

Kathrin Karle

9

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14 January 2020

Thomas M Ringer

10

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14 January 2020

publication date

12 September 2008

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14 January 2020

1 reference

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14 January 2020

10

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14 January 2020

1

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14 January 2020

43-48

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14 January 2020

https://scigraph.springernature.com/pub.10.1007/s10048-008-0144-2

0 references

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0144-2

21 January 2018

Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0144-2

21 January 2018

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0144-2

21 January 2018

SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0144-2

21 January 2018

SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0144-2

21 January 2018

Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0144-2

21 January 2018

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0144-2

21 January 2018

MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0144-2

21 January 2018

Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0144-2

21 January 2018

MLPA and MAPH: new techniques for detection of gene deletions

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0144-2

21 January 2018

Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0144-2

21 January 2018

Effective quantitative real-time polymerase chain reaction analysis of the parkin gene (PARK2) exon 1-12 dosage.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0144-2

21 January 2018

High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0144-2

21 January 2018

Preimplantation genetic diagnosis: current status and new developments

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0144-2

21 January 2018

Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0144-2

21 January 2018

Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11).

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0144-2

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0144-2

21 January 2018

Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0144-2

21 January 2018

High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia

1 reference

https://pubmed.ncbi.nlm.nih.gov/18787847

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two novel mutations in the SPG11 gene causing hereditary spastic paraplegia associated with thin corpus callosum

1 reference

https://pubmed.ncbi.nlm.nih.gov/18787847

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations of the SPG11 gene in patients with autosomal recessive spastic paraparesis and thin corpus callosum

1 reference

https://pubmed.ncbi.nlm.nih.gov/18787847

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomewide SNP assay reveals mutations underlying Parkinson disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/18787847

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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