(Q43985071)

28 November 2017

ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes (English)

1 reference

28 November 2017

6

1 reference

28 November 2017

4

A R Mensenkamp

1 reference

28 November 2017

Leonard H van den Berg

7

object named as

L H van den Berg

1 reference

28 November 2017

S T de Bot

1

1 reference

28 November 2017

J H Veldink

2

1 reference

28 November 2017

S Vermeer

3

1 reference

28 November 2017

F Brugman

5

1 reference

28 November 2017

H P H Kremer

8

1 reference

28 November 2017

E J Kamsteeg

9

1 reference

28 November 2017

B P van de Warrenburg

10

1 reference

28 November 2017

30 October 2012

1 reference

28 November 2017

1 reference

28 November 2017

260

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28 November 2017

3

1 reference

28 November 2017

869-875

1 reference

https://scigraph.springernature.com/pub.10.1007/s00415-012-6723-z

28 November 2017

0 references

cites work

Genetics of hereditary spastic paraplegias

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6723-Z

Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6723-Z

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6723-Z

Differentiation of hereditary spastic paraparesis from primary lateral sclerosis in sporadic adult-onset upper motor neuron syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6723-Z

El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6723-Z

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%2FS00415-012-6723-Z

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%2FS00415-012-6723-Z

Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6723-Z

Japan spastic paraplegia research consortium (JASPAC)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6723-Z

Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6723-Z

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6723-Z

REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6723-Z

SPG3A: An additional family carrying a new atlastin mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6723-Z

Spastin mutations in sporadic adult-onset upper motor neuron syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6723-Z

SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6723-Z

Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23108492

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23108492

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23108492

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00415-012-6723-Z

1 reference

28 November 2017

1 reference