×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
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
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
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
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
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
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
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
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.960
GeneticVariation
disease
CLINVAR
Genomic diagnosis for children with intellectual disability and/or developmental delay.
28554332
2017
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.960
GeneticVariation
disease
UNIPROT
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
27217339
2016
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.960
CausalMutation
disease
CLINVAR
High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles.
27071356
2016
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.960
CausalMutation
disease
CLINVAR
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
27217339
2016
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.960
CausalMutation
disease
CLINVAR
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
26556829
2016
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.960
CausalMutation
disease
CLINVAR
Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.
27084228
2016
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.960
GeneticVariation
disease
CLINVAR
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
26556829
2016
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.960
GeneticVariation
disease
CLINVAR
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
27217339
2016
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.960
Biomarker
disease
MGD
In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11.
26284655
2015
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.960
CausalMutation
disease
CLINVAR
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
24833714
2014
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
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
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.960
CausalMutation
disease
CLINVAR
Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients.
23443022
2013
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.960
CausalMutation
disease
CLINVAR
White and grey matter abnormalities in patients with SPG11 mutations.
22696581
2012
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.960
GeneticVariation
disease
CLINVAR
Exome sequencing reveals SPG11 mutations causing juvenile ALS.
22154821
2012
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.960
CausalMutation
disease
CLINVAR
Atypical hereditary spastic paraplegia with thin corpus callosum in a Korean patient with a novel SPG11 mutation.
22175763
2012
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.960
CausalMutation
disease
CLINVAR
Exome sequencing reveals SPG11 mutations causing juvenile ALS.
22154821
2012
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.960
CausalMutation
disease
CLINVAR
Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations.
22237444
2012
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
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
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.960
CausalMutation
disease
CLINVAR
Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish.
20390432
2010
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.960
GeneticVariation
disease
CLINVAR
Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish.
20390432
2010
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.960
GeneticVariation
disease
CLINVAR
SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis.
20110243
2010