(Q80573174)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15372247%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

title

A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15372247%20AND%20SRC:MED&resulttype=core&format=json

hereditary spastic paraplegia

1 January 2020

main subject

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15372247%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Christos Proukakis

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15372247%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

author name string

Heema Patel

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15372247%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Johanna A Reed

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15372247%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Laura McKie

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15372247%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Adrian Wills

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15372247%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Michael A Patton

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15372247%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Andrew H Crosby

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15372247%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

publication date

1 September 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15372247%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15372247%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

volume

251

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15372247%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15372247%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

page(s)

1068-1074

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15372247%20AND%20SRC:MED&resulttype=core&format=json

Strategies for multilocus linkage analysis in humans

1 January 2020

cites work

1 reference

12 December 2020

Spastic paraplegia, epilepsy, and mental retardation in several members of a family: a novel genetic disorder.

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

Avoiding recomputation in linkage analysis.

1 reference

12 December 2020

Is the transportation highway the right road for hereditary spastic paraplegia?

1 reference

12 December 2020

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

1 reference

12 December 2020

Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic study

1 reference

12 December 2020

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)

1 reference

12 December 2020

Hereditary spastic paraplegias

1 reference

12 December 2020

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

1 reference

12 December 2020

Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia

1 reference

12 December 2020

Linkage of AD HSP and cognitive impairment to chromosome 2p: haplotype and phenotype analysis indicates variable expression and low or delayed penetrance

1 reference

12 December 2020

A functional link between dynamin and the actin cytoskeleton at podosomes

1 reference

12 December 2020

The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype

1 reference

12 December 2020

The dynamin-like protein DLP1 is essential for normal distribution and morphology of the endoplasmic reticulum and mitochondria in mammalian cells

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

Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

1 reference

12 December 2020

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

1 reference

12 December 2020

A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34.

1 reference

12 December 2020