×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.400
GeneticVariation
disease
BEFREE
Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11 ).
14732628
2004
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.400
Biomarker
disease
BEFREE
Further clinical and genetic characterization of SPG11 : hereditary spastic paraplegia with thin corpus callosum.
16773502
2006
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.400
GeneticVariation
disease
LHGDN
Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.
18067136
2007
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.400
Biomarker
disease
BEFREE
Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11 , SPG15, and further genetic heterogeneity.
18332254
2008
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.400
GeneticVariation
disease
LHGDN
SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia.
18337587
2008
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.400
GeneticVariation
disease
BEFREE
We conclude that mutations on KIAA1840 are frequent in complex autosomal recessive hereditary spastic paraplegia but an infrequent cause of sporadic complex hereditary spastic paraplegia .
18337587
2008
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.400
GeneticVariation
disease
LHGDN
Two novel mutations in the SPG11 gene causing hereditary spastic paraplegia associated with thin corpus callosum.
18361476
2008
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.400
GeneticVariation
disease
BEFREE
Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11 ).
18717728
2008
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.400
GeneticVariation
disease
LHGDN
Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).
18717728
2008
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.400
GeneticVariation
disease
BEFREE
Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum.
18835492
2008
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.400
GeneticVariation
disease
BEFREE
Novel compound heterozygous mutations of the SPG11 gene in Korean families with hereditary spastic paraplegia with thin corpus callosum.
19513778
2009
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.400
GeneticVariation
disease
BEFREE
We show that the gene KIAA0415 encodes a putative helicase that interacts with SPG11 and SPG15, two proteins mutated in hereditary spastic paraplegia (HSP).
20613862
2010
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.400
GeneticVariation
disease
BEFREE
Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum.
20971220
2011
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.400
GeneticVariation
disease
BEFREE
We studied in more detail the SPG5-related spectrum of complex phenotypes by screening CYPB1 for mutations in a large cohort of 105 Italian hereditary spastic paraplegias (HSPs) index patients including 50 patients with a complicated HSP (cHSP) phenotype overlapping the SPG11 - and the SPG15-related forms except for the lack of thin corpus callosum and 55 pure patients.
21214876
2012
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.400
GeneticVariation
disease
BEFREE
Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism.
21381113
2011
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.400
Biomarker
disease
BEFREE
Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia .
21545838
2011
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.400
GeneticVariation
disease
BEFREE
Among the AR-SPGs, ~20% of the patients carry mutations in the KIAA1840 (SPG11 ) gene whereas the 15 other genes are rarely mutated and account for SPG s in single families yet (CYP7B1 (SPG5), SPG7 (SPG7), ZFYVE26 (SPG15), ERLIN2 (SPG18), SPG20 (SPG20), ACP33 (SPG21), KIF1A (SPG30), FA2H (SPG35), NTE (SPG39), GJA12/GJC2 (SPG44), KIAA0415 (SPG48) and 4 genes encoding for the AP4-complex (SPG47)).
22554690
2012
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.400
GeneticVariation
disease
BEFREE
Mutations in SPG11 gene have been recently identified as a major cause of hereditary spastic paraplegia with thin corpus callosum.
23121729
2013
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.400
Biomarker
disease
BEFREE
Diffusion tensor imaging in SPG11 - and SPG4-linked hereditary spastic paraplegia .
23968121
2014
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.400
GeneticVariation
disease
BEFREE
Novel mutations c.[5121_5122insAG ]+[6859C>T] of the SPG11 gene associated with cerebellum hypometabolism in a Chinese case of hereditary spastic paraplegia with thin corpus callosum.
24315199
2014
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.400
Biomarker
disease
BEFREE
Dysfunction of spatacsin leads to axonal pathology in SPG11 -linked hereditary spastic paraplegia .
24794856
2014
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.400
GeneticVariation
disease
BEFREE
Exome sequencing reveals novel SPG11 mutation in hereditary spastic paraplegia with complicated phenotypes.
26003865
2015
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.400
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
0.400
GeneticVariation
disease
BEFREE
We describe a patient with SPG11 hereditary spastic paraplegia (HSP), who developed walking disorder in childhood.
27180005
2017
×
Entrez Id:
80208
Gene Symbol:
SPG11
SPG11
0.400
GeneticVariation
disease
BEFREE
Novel Compound Heterozygous Spatacsin Mutations in a Greek Kindred with Hereditary Spastic Paraplegia SPG11 and Dementia.
27318863
2016