|
Spastic paraplegia 11, autosomal recessive
|
0.960 |
GeneticVariation
|
disease |
BEFREE |
For the delineation of potential defect in SPG11 brain development we employ 2D culture systems and 3D human brain organoids derived from SPG11 patients' iPSC and controls.
|
30476097 |
2019 |
|
Spastic paraplegia 11, autosomal recessive
|
0.960 |
GeneticVariation
|
disease |
BEFREE |
The "ears of the lynx" MR imaging sign has been described in case reports of hereditary spastic paraplegia with a thin corpus callosum, mostly associated with mutations in the <i>spatacsin vesicle trafficking associated</i> gene, causing Spastic Paraplegia type 11 (SPG11).
|
30606727 |
2019 |
|
Spastic paraplegia 11, autosomal recessive
|
0.960 |
Biomarker
|
disease |
BEFREE |
Here, we show that spatacsin, which is required for lysosome recycling and whose loss of function leads to hereditary spastic paraplegia 11 (SPG11), promotes clearance of gangliosides from lysosomes in mouse and human SPG11 models.
|
29949766 |
2018 |
|
Spastic paraplegia 11, autosomal recessive
|
0.960 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Pallidal Deep Brain Stimulation for the Treatment of Levodopa-Responsive Juvenile Dystonia and Parkinsonism Secondary to SPG11 Mutation.
|
27820618 |
2017 |
|
Spastic paraplegia 11, autosomal recessive
|
0.960 |
GeneticVariation
|
disease |
CLINVAR |
Genomic diagnosis for children with intellectual disability and/or developmental delay.
|
28554332 |
2017 |
|
Spastic paraplegia 11, autosomal recessive
|
0.960 |
GeneticVariation
|
disease |
UNIPROT |
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
|
27217339 |
2016 |
|
Spastic paraplegia 11, autosomal recessive
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles.
|
27071356 |
2016 |
|
Spastic paraplegia 11, autosomal recessive
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
|
27217339 |
2016 |
|
Spastic paraplegia 11, autosomal recessive
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
|
26556829 |
2016 |
|
Spastic paraplegia 11, autosomal recessive
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.
|
27084228 |
2016 |
|
Spastic paraplegia 11, autosomal recessive
|
0.960 |
GeneticVariation
|
disease |
CLINVAR |
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
|
26556829 |
2016 |
|
Spastic paraplegia 11, autosomal recessive
|
0.960 |
GeneticVariation
|
disease |
CLINVAR |
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
|
27217339 |
2016 |
|
Spastic paraplegia 11, autosomal recessive
|
0.960 |
Biomarker
|
disease |
MGD |
In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11.
|
26284655 |
2015 |
|
Spastic paraplegia 11, autosomal recessive
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
|
24833714 |
2014 |
|
Spastic paraplegia 11, autosomal recessive
|
0.960 |
Biomarker
|
disease |
BEFREE |
Finally, time-lapse assays performed in SPG11 patients'-derived neurons and spatacsin-silenced mouse neurons highlighted a reduction in the anterograde vesicle trafficking indicative of impaired axonal transport.
|
24794856 |
2014 |
|
Spastic paraplegia 11, autosomal recessive
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients.
|
23443022 |
2013 |
|
Spastic paraplegia 11, autosomal recessive
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
White and grey matter abnormalities in patients with SPG11 mutations.
|
22696581 |
2012 |
|
Spastic paraplegia 11, autosomal recessive
|
0.960 |
GeneticVariation
|
disease |
CLINVAR |
Exome sequencing reveals SPG11 mutations causing juvenile ALS.
|
22154821 |
2012 |
|
Spastic paraplegia 11, autosomal recessive
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Atypical hereditary spastic paraplegia with thin corpus callosum in a Korean patient with a novel SPG11 mutation.
|
22175763 |
2012 |
|
Spastic paraplegia 11, autosomal recessive
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Exome sequencing reveals SPG11 mutations causing juvenile ALS.
|
22154821 |
2012 |
|
Spastic paraplegia 11, autosomal recessive
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations.
|
22237444 |
2012 |
|
Spastic paraplegia 11, autosomal recessive
|
0.960 |
GeneticVariation
|
disease |
BEFREE |
We describe a complex entire SPG11 rearrangement and show that large gene rearrangements are frequent among patients with spastic paraplegia type 11.
|
22237444 |
2012 |
|
Spastic paraplegia 11, autosomal recessive
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish.
|
20390432 |
2010 |
|
Spastic paraplegia 11, autosomal recessive
|
0.960 |
GeneticVariation
|
disease |
CLINVAR |
Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish.
|
20390432 |
2010 |
|
Spastic paraplegia 11, autosomal recessive
|
0.960 |
GeneticVariation
|
disease |
CLINVAR |
SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis.
|
20110243 |
2010 |