(Q28215111)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12124993%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

title

Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12124993%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

0 references

0 references

hereditary spastic paraplegia

1 reference

10

1 reference

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11 November 2019

Joerg T. Epplen

11

1 reference

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11 November 2019

author name string

S Sauter

1

1 reference

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11 November 2019

B Miterski

2

1 reference

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11 November 2019

S Klimpe

3

1 reference

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11 November 2019

D Bönsch

4

1 reference

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11 November 2019

L Schöls

5

1 reference

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11 November 2019

A Visbeck

6

1 reference

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11 November 2019

T Papke

7

1 reference

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11 November 2019

H C Hopf

8

1 reference

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11 November 2019

W Engel

9

1 reference

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11 November 2019

J Neesen

12

1 reference

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11 November 2019

language of work or name

English

0 references

publication date

1 August 2002

1 reference

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11 November 2019

1 reference

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11 November 2019

volume

20

1 reference

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11 November 2019

issue

2

1 reference

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11 November 2019

page(s)

127-132

1 reference

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Hereditary spastic paraplegia caused by mutations in the SPG4 gene

11 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10105

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10105

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10105

Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10105

Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10105

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10105

Classification of the hereditary ataxias and paraplegias

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10105

Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10105

Novel mutations in spastin gene and absence of correlation with age at onset of symptoms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10105

X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10105

Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10105

PCR/SSCP detects reliably and efficiently DNA sequence variations in large scale screening projects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10105

Pure hereditary spastic paraplegia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10105

Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10105

X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10105

Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10105

Recent advances in hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10105

Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10105

Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10105

Phenotype of AD-HSP due to mutations in the SPAST gene: Comparison with AD-HSP without mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10105

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.10105

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12124993%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017