|
Spastic paraplegia 4, autosomal dominant
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We aim to extend the mutation spectrum of spastic paraplegia 4 (SPG4) and carried out experiment in vitro to explore the influence of the SPAST gene mutation on the function of corresponding protein.
|
31751864 |
2019 |
|
Spastic paraplegia 4, autosomal dominant
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia.
|
28572275 |
2017 |
|
Spastic paraplegia 4, autosomal dominant
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia.
|
28572275 |
2017 |
|
Spastic paraplegia 4, autosomal dominant
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical and genetic study of hereditary spastic paraplegia in Canada.
|
27957547 |
2017 |
|
Spastic paraplegia 4, autosomal dominant
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia.
|
28572275 |
2017 |
|
Spastic paraplegia 4, autosomal dominant
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia.
|
28572275 |
2017 |
|
Spastic paraplegia 4, autosomal dominant
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia.
|
28572275 |
2017 |
|
Spastic paraplegia 4, autosomal dominant
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia.
|
27334366 |
2016 |
|
Spastic paraplegia 4, autosomal dominant
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.
|
26374131 |
2016 |
|
Spastic paraplegia 4, autosomal dominant
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Human skin fibroblasts were isolated from a 40-year-old hereditary spastic paraplegia patient carrying an intronic splice site mutation (c.1687+2T>A) in SPAST, leading to hereditary spastic paraplegia type 4 (SPG4).
|
27789400 |
2016 |
|
Spastic paraplegia 4, autosomal dominant
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia.
|
27334366 |
2016 |
|
Spastic paraplegia 4, autosomal dominant
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.
|
27084228 |
2016 |
|
Spastic paraplegia 4, autosomal dominant
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.
|
26374131 |
2016 |
|
Spastic paraplegia 4, autosomal dominant
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings.
|
27260292 |
2016 |
|
Spastic paraplegia 4, autosomal dominant
|
1.000 |
Biomarker
|
disease |
BEFREE |
Three genetic types, SPG3 (ATL1), SPG4 (SPAST) and SPG31 (REEP1), appear predominantly and may account for up to 50% of autosomal dominant hereditary spastic paraplegias (AD-HSPs).
|
26671083 |
2015 |
|
Spastic paraplegia 4, autosomal dominant
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Spastic paraplegia 4, autosomal dominant
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Multimodal MRI-based study in patients with SPG4 mutations.
|
25658484 |
2015 |
|
Spastic paraplegia 4, autosomal dominant
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia.
|
26208798 |
2015 |
|
Spastic paraplegia 4, autosomal dominant
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons.
|
24381312 |
2014 |
|
Spastic paraplegia 4, autosomal dominant
|
1.000 |
Biomarker
|
disease |
BEFREE |
Here, we have generated a human neuronal model of SPG4 by establishing induced pluripotent stem cells (iPSCs) from an SPG4 patient and differentiating these cells into telencephalic glutamatergic neurons.
|
24123785 |
2014 |
|
Spastic paraplegia 4, autosomal dominant
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
High frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia.
|
25421405 |
2014 |
|
Spastic paraplegia 4, autosomal dominant
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia.
|
24824479 |
2014 |
|
Spastic paraplegia 4, autosomal dominant
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia.
|
25045380 |
2014 |
|
Spastic paraplegia 4, autosomal dominant
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutation and clinical characteristics of autosomal-dominant hereditary spastic paraplegias in China.
|
25341883 |
2014 |
|
Spastic paraplegia 4, autosomal dominant
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Furthermore, our human model offers an ideal platform for pharmacological screenings with the goal to restore physiological spastin levels in SPG4 patients.
|
24381312 |
2014 |