(Q45731113)

15 December 2017

title

Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene (English)

1 reference

15 December 2017

7

1 reference

15 December 2017

2

Sascha Vermeer

1 reference

15 December 2017

Susanne T de Bot

1

1 reference

15 December 2017

Wendy Buijsman

3

1 reference

15 December 2017

Angelien Heister

4

1 reference

15 December 2017

Marsha Voorendt

5

1 reference

15 December 2017

Aad Verrips

6

1 reference

15 December 2017

Hubertus P H Kremer

8

1 reference

15 December 2017

Bart P C van de Warrenburg

9

1 reference

15 December 2017

Erik-Jan Kamsteeg

10

1 reference

15 December 2017

publication date

2 March 2013

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15 December 2017

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15 December 2017

volume

260

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15 December 2017

issue

7

1 reference

15 December 2017

page(s)

1765-1769

1 reference

https://scigraph.springernature.com/pub.10.1007/s00415-013-6870-x

15 December 2017

exact match

0 references

cites work

Genetics of hereditary spastic paraplegias

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-6870-X

The Arp2/3 activator WASH controls the fission of endosomes through a large multiprotein complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-6870-X

Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-6870-X

Hereditary spastic paraplegia caused by a mutation in the VCP gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-6870-X

Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-6870-X

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-6870-X

Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-6870-X

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-6870-X

A SImplified method for Segregation Analysis (SISA) to determine penetrance and expression of a genetic variant in a family

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-6870-X

Phenotypic analysis of autosomal dominant hereditary spastic paraplegia linked to chromosome 8q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-6870-X

Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: Analysis of muscle beta 1 syntrophin

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23455931

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Autosomal dominant spastic paraplegia: refined SPG8 locus and additional genetic heterogeneity

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23455931

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00415-013-6870-X

1 reference

Dimensions Publication ID

15 December 2017

1044845524

0 references

1 reference