(Q81185458)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18446315%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

title

Extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18446315%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

1 reference

J Haberlová

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18446315%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

K G Claeys

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18446315%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

J Zámecník

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18446315%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

P De Jonghe

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18446315%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

P Seeman

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18446315%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

publication date

30 April 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18446315%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18446315%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

volume

255

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18446315%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18446315%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

page(s)

927-928

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18446315%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s00415-008-0598-z

6 January 2020

exact match

0 references

cites work

The hereditary spastic paraplegias: nine genes and counting

1 reference

12 December 2020

The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy.

1 reference

12 December 2020

SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development

1 reference

12 December 2020

Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation

1 reference

12 December 2020

De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy

1 reference

12 December 2020

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

1 reference

12 December 2020

CDD: a Conserved Domain Database for protein classification

1 reference

12 December 2020

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

1 reference

12 December 2020

Hereditary Spastic Paraplegia 3A Associated With Axonal Neuropathy

1 reference

12 December 2020