Movement Disorders
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.
|
26374131 |
2016 |
Movement Disorders
|
0.110 |
GeneticVariation
|
group |
CLINVAR |
Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.
|
26374131 |
2016 |
Movement Disorders
|
0.110 |
GeneticVariation
|
group |
CLINVAR |
Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.
|
26671083 |
2015 |
Movement Disorders
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia.
|
26208798 |
2015 |
Movement Disorders
|
0.110 |
GeneticVariation
|
group |
CLINVAR |
Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia.
|
26208798 |
2015 |
Movement Disorders
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.
|
26671083 |
2015 |
Movement Disorders
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Hereditary spastic paraplegia SPG4: what is known and not known about the disease.
|
26094131 |
2015 |
Movement Disorders
|
0.110 |
GeneticVariation
|
group |
CLINVAR |
Hereditary spastic paraplegia SPG4: what is known and not known about the disease.
|
26094131 |
2015 |
Movement Disorders
|
0.110 |
GeneticVariation
|
group |
BEFREE |
Although mutations in the SPAST gene explain approximately 40% of the pure autosomal dominant forms, molecular diagnosis can be challenging for the sporadic and recessive forms, which are often complicated and clinically overlap with a broad number of movement disorders.
|
23438842 |
2014 |
Movement Disorders
|
0.110 |
GeneticVariation
|
group |
CLINVAR |
Pathogenic mutation of spastin has gain-of-function effects on microtubule dynamics.
|
24478365 |
2014 |
Movement Disorders
|
0.110 |
GeneticVariation
|
group |
CLINVAR |
A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother.
|
25315759 |
2014 |
Movement Disorders
|
0.110 |
GeneticVariation
|
group |
CLINVAR |
Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia.
|
23438842 |
2014 |
Movement Disorders
|
0.110 |
GeneticVariation
|
group |
CLINVAR |
The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.
|
25065914 |
2014 |
Movement Disorders
|
0.110 |
CausalMutation
|
group |
CLINVAR |
The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.
|
25065914 |
2014 |
Movement Disorders
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia.
|
23438842 |
2014 |
Movement Disorders
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Pathogenic mutation of spastin has gain-of-function effects on microtubule dynamics.
|
24478365 |
2014 |
Movement Disorders
|
0.110 |
CausalMutation
|
group |
CLINVAR |
A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother.
|
25315759 |
2014 |
Movement Disorders
|
0.110 |
GeneticVariation
|
group |
CLINVAR |
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
|
24267886 |
2013 |
Movement Disorders
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
|
24267886 |
2013 |
Movement Disorders
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.
|
22554690 |
2012 |
Movement Disorders
|
0.110 |
GeneticVariation
|
group |
CLINVAR |
Normal spastin gene dosage is specifically required for axon regeneration.
|
23122959 |
2012 |
Movement Disorders
|
0.110 |
GeneticVariation
|
group |
CLINVAR |
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.
|
22554690 |
2012 |
Movement Disorders
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Normal spastin gene dosage is specifically required for axon regeneration.
|
23122959 |
2012 |
Movement Disorders
|
0.110 |
GeneticVariation
|
group |
CLINVAR |
Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations.
|
20562464 |
2010 |
Movement Disorders
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations.
|
20562464 |
2010 |