|
Spastic paraplegia 4, autosomal dominant
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Novel and recurrent spastin mutations in a large series of SPG4 Italian families.
|
22960362 |
2012 |
|
Spastic paraplegia 4, autosomal dominant
|
|
0.700 |
CausalMutation
|
CLINVAR |
Novel and recurrent spastin mutations in a large series of SPG4 Italian families.
|
22960362 |
2012 |
|
Spastic paraplegia 4, autosomal dominant
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.
|
20718791 |
2011 |
|
Spastic paraplegia 4, autosomal dominant
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.
|
20718791 |
2011 |
|
Spastic paraplegia 4, autosomal dominant
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements.
|
20214791 |
2010 |
|
Spastic paraplegia 4, autosomal dominant
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.
|
20932283 |
2010 |
|
Spastic paraplegia 4, autosomal dominant
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.
|
20932283 |
2010 |
|
Spastic paraplegia 4, autosomal dominant
|
|
0.700 |
CausalMutation
|
CLINVAR |
Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations.
|
15841487 |
2005 |
|
Spastic paraplegia 4, autosomal dominant
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations.
|
15841487 |
2005 |
|
Spastic paraplegia 4, autosomal dominant
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics.
|
11809724 |
2002 |
|
Spastic paraplegia 4, autosomal dominant
|
|
0.700 |
CausalMutation
|
CLINVAR |
Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia.
|
11843700 |
2002 |
|
Spastic paraplegia 4, autosomal dominant
|
|
0.700 |
CausalMutation
|
CLINVAR |
Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics.
|
11809724 |
2002 |
|
Spastic paraplegia 4, autosomal dominant
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia.
|
11843700 |
2002 |
|
Spastic paraplegia 4, autosomal dominant
|
|
0.700 |
CausalMutation
|
CLINVAR |
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.
|
10699187 |
2000 |
|
Spastic paraplegia 4, autosomal dominant
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.
|
10699187 |
2000 |
|
Muscle Spasticity
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Little's Disease
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Tip-toe gait
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Flexion contracture
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Valgus deformities of feet
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|