|
Spastic paraplegia 4, autosomal dominant
|
|
0.800 |
CausalMutation
|
CLINVAR |
A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings.
|
27260292 |
2016 |
|
Spastic paraplegia 4, autosomal dominant
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia.
|
24824479 |
2014 |
|
Spastic paraplegia 4, autosomal dominant
|
|
0.800 |
GeneticVariation
|
UNIPROT |
First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia.
|
23279441 |
2013 |
|
Spastic paraplegia 4, autosomal dominant
|
|
0.800 |
CausalMutation
|
CLINVAR |
Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia.
|
18701882 |
2009 |
|
Spastic paraplegia 4, autosomal dominant
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia.
|
17594340 |
2007 |
|
Spastic paraplegia 4, autosomal dominant
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia.
|
16682546 |
2006 |
|
Spastic paraplegia 4, autosomal dominant
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners.
|
16339213 |
2006 |
|
Spastic paraplegia 4, autosomal dominant
|
|
0.800 |
CausalMutation
|
CLINVAR |
Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases.
|
16055926 |
2006 |
|
Spastic paraplegia 4, autosomal dominant
|
|
0.800 |
CausalMutation
|
CLINVAR |
Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing.
|
15716377 |
2005 |
|
Spastic paraplegia 4, autosomal dominant
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Subcellular localization of spastin: implications for the pathogenesis of hereditary spastic paraplegia.
|
15891913 |
2005 |
|
Spastic paraplegia 4, autosomal dominant
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutation analysis of SPG4 and SPG3A genes and its implication in molecular diagnosis of Korean patients with hereditary spastic paraplegia.
|
16009769 |
2005 |
|
Spastic paraplegia 4, autosomal dominant
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts.
|
15159500 |
2004 |
|
Spastic paraplegia 4, autosomal dominant
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia.
|
14732620 |
2004 |
|
Spastic paraplegia 4, autosomal dominant
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene.
|
12552568 |
2003 |
|
Spastic paraplegia 4, autosomal dominant
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia.
|
11843700 |
2002 |
|
Spastic paraplegia 4, autosomal dominant
|
|
0.800 |
CausalMutation
|
CLINVAR |
Spastin gene mutation in Japanese with hereditary spastic paraplegia.
|
12161613 |
2002 |
|
Spastic paraplegia 4, autosomal dominant
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel missense mutation (I344K) in the SPG4gene in a Korean family with autosomal-dominant hereditary spastic paraplegia.
|
12202986 |
2002 |
|
Spastic paraplegia 4, autosomal dominant
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Spastin gene mutation in Japanese with hereditary spastic paraplegia.
|
12161613 |
2002 |
|
Spastic paraplegia 4, autosomal dominant
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia.
|
11985387 |
2002 |
|
Spastic paraplegia 4, autosomal dominant
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia.
|
12124993 |
2002 |
|
Spastic paraplegia 4, autosomal dominant
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics.
|
11809724 |
2002 |
|
Spastic paraplegia 4, autosomal dominant
|
|
0.800 |
CausalMutation
|
CLINVAR |
Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics.
|
11809724 |
2002 |
|
Spastic paraplegia 4, autosomal dominant
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.
|
11309678 |
2001 |
|
Spastic paraplegia 4, autosomal dominant
|
|
0.800 |
CausalMutation
|
CLINVAR |
Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.
|
11309678 |
2001 |
|
Spastic paraplegia 4, autosomal dominant
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel mutations in spastin gene and absence of correlation with age at onset of symptoms.
|
11087788 |
2000 |