×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.400
GeneticVariation
disease
BEFREE
Clinical features of hereditary spastic paraplegia due to spastin mutation.
16832076
2006
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.400
GeneticVariation
disease
BEFREE
Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia .
18190593
2008
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.400
GeneticVariation
disease
BEFREE
Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia .
17100993
2006
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.400
Biomarker
disease
BEFREE
New hypothesis for the etiology of SPAST -based hereditary spastic paraplegia .
31108029
2019
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.400
GeneticVariation
disease
BEFREE
Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia .
11843700
2002
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.400
Biomarker
disease
BEFREE
For SPG4 , the gene most frequently involved in hereditary spastic paraplegias , a novel mutational mechanism was described, which allows detection of an increased number of cases.
17992088
2007
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.400
GeneticVariation
disease
BEFREE
Hereditary spastic paraplegia (HSP) due to mutations in the spastin gene (SPG4 ) located to 2p22-p21 is the most common form of autosomal dominant (AD) HSP.
15637712
2005
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.400
GeneticVariation
disease
BEFREE
Dementia in SPG4 hereditary spastic paraplegia : clinical, genetic, and neuropathologic evidence.
19652142
2009
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.400
GeneticVariation
disease
BEFREE
Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegia .
17916079
2007
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.400
Biomarker
disease
BEFREE
Mutations of the <i>SPG4</i> (<i>SPAST</i>) gene encoding for spastin protein are the main causes of hereditary spastic paraplegia .
30213879
2018
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.400
Biomarker
disease
LHGDN
Spastin subcellular localization is regulated through usage of different translation start sites and active export from the nucleus.
16026783
2005
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.400
Biomarker
disease
BEFREE
Loss of spastin function results in disease-specific axonal defects in human pluripotent stem cell-based models of hereditary spastic paraplegia .
24123785
2014
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.400
GeneticVariation
disease
LHGDN
Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations.
15841487
2005
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.400
GeneticVariation
disease
BEFREE
Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation.
15667412
2004
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.400
GeneticVariation
disease
BEFREE
Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia .
11309678
2001
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.400
GeneticVariation
disease
BEFREE
Spastic paraplegia 4 (SPG4), caused by heterozygous mutations in the gene SPAST , typically causes a late-onset, uncomplicated form of hereditary spastic paraplegia in affected individuals.
29421991
2018
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.400
Biomarker
disease
LHGDN
The role of hereditary spastic paraplegia related genes in multiple sclerosis. A study of disease susceptibility and clinical outcome.
17420921
2007
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.400
GeneticVariation
disease
BEFREE
Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia .
20932283
2010
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.400
GeneticVariation
disease
BEFREE
Our work also provides insights into the structural defects in spastin that arise from mutations identified in hereditary spastic paraplegia patients.
18202664
2008
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.400
Biomarker
disease
BEFREE
Accumulation of genotype-phenotype correlation is important for better understanding of SPG4 -linked hereditary spastic paraplegia .
15210521
2004
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.400
Biomarker
disease
BEFREE
Targeted next generation sequencing in SPAST -negative hereditary spastic paraplegia .
23812641
2013
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.400
GeneticVariation
disease
BEFREE
We identified deletions of exon 10 of the SPAST gene in two unrelated families with hereditary spastic paraplegia .
28008689
2017
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.400
Biomarker
disease
BEFREE
Motor activation in SPG4 -linked hereditary spastic paraplegia .
16571355
2006
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.400
GeneticVariation
disease
BEFREE
Direct evidence for axonal transport defects in a novel mouse model of mutant spastin -induced hereditary spastic paraplegia (HSP) and human HSP patients.
19453301
2009
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.400
Biomarker
disease
MGD
A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition.
17101632
2006