×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.200
Biomarker
disease
BEFREE
Eventually, we further validated the cellular changes in fibroblasts of two major spastic paraplegia (SPG ) patients (SPG4 and SPG11) in vitro.
29980238
2018
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.200
GeneticVariation
disease
BEFREE
Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex.
30476002
2018
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.200
GeneticVariation
disease
BEFREE
A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder.
28778789
2017
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.200
GeneticVariation
disease
BEFREE
Loss-of-function and haploinsufficiency in SPAST have been demonstrated and the pure form of spastic paraplegia is a main clinical manifestation.
28870597
2017
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.200
GeneticVariation
disease
BEFREE
There is increasing evidence, however, of patients with complicated forms of spastic paraplegia in which SPG4 mutations were identified.
19875132
2010
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.200
GeneticVariation
disease
BEFREE
Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families.
18664244
2009
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.200
GeneticVariation
disease
BEFREE
Mental deficiency in three families with SPG4 spastic paraplegia .
17957230
2008
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.200
GeneticVariation
disease
BEFREE
Four mutations of the spastin gene in Japanese families with spastic paraplegia .
16788734
2006
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.200
GeneticVariation
disease
BEFREE
To assess the frequency of SPG4 mutation in patients with spastic paraplegia but without family histories.
16055926
2006
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.200
GeneticVariation
disease
BEFREE
We conclude that this kindred demonstrates a considerable overlap between cerebellar ataxia and spastic paraplegia , emphasizing the marked clinical heterogeneity of HSP associated with spastin mutations.
15667412
2004
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.200
GeneticVariation
disease
BEFREE
A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts.
15159500
2004
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.200
GeneticVariation
disease
BEFREE
A novel insertion mutation in spastin gene is the cause of spastic paraplegia in a Chinese family.
12736085
2003
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.200
GeneticVariation
disease
BEFREE
A novel mutation in the spastin gene in a family with spastic paraplegia .
12023066
2002
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.200
GeneticVariation
disease
BEFREE
Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p.
9507385
1998
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.200
Biomarker
disease
HPO
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.200
CausalMutation
disease
CLINVAR
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.200
GeneticVariation
disease
CLINVAR