(Q59544311)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19034539%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19034539%20AND%20SRC:MED&resulttype=core&format=json

hereditary spastic paraplegia

17 January 2020

main subject

1 reference

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19034539%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Andrew Grierson

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19034539%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Pamela Shaw

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19034539%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

author name string

Channa Hewamadduma

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19034539%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Christopher McDermott

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19034539%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Maria Panayi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19034539%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Ann Dalton

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19034539%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Yusuuf Rajabally

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19034539%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

publication date

26 November 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19034539%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19034539%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

volume

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19034539%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19034539%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

page(s)

105-110

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19034539%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s10048-008-0163-z

17 January 2020

exact match

0 references

cites work

Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).

1 reference

12 December 2020

Function of a plant stress-induced gene, HVA22. Synthetic enhancement screen with its yeast homolog reveals its role in vesicular traffic

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis

1 reference

12 December 2020

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

1 reference

12 December 2020

AtHVA22 gene family in Arabidopsis: phylogenetic relationship, ABA and stress regulation, and tissue-specific expression

1 reference

12 December 2020

Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia

1 reference

12 December 2020

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

1 reference

12 December 2020

SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.

1 reference

12 December 2020

Investigation of mitochondrial function in hereditary spastic paraparesis.

1 reference

12 December 2020

Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation

1 reference

12 December 2020

Yop1p, the yeast homolog of the polyposis locus protein 1, interacts with Yip1p and negatively regulates cell growth

1 reference

12 December 2020

HSP60IS A RARE CAUSE OF HEREDITARY SPASTIC PARAPARESIS, BUT MAY ACT AS A GENETIC MODIFIER

1 reference

12 December 2020

Hereditary spastic paraparesis: a review of new developments.

1 reference

12 December 2020

Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60

1 reference

12 December 2020

RTP family members induce functional expression of mammalian odorant receptors

1 reference

12 December 2020

Linkage to a known gene but no mutation identified: comprehensive reanalysis ofSPG4 HSP pedigrees reveals large deletions as the sole cause

1 reference

12 December 2020

Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31

1 reference

12 December 2020

The small GTPase Rab7 controls the endosomal trafficking and neuritogenic signaling of the nerve growth factor receptor TrkA.

1 reference

12 December 2020

Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England

1 reference

12 December 2020

10.1007/S10048-008-0163-Z

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19034539%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference