|
Spastic paraplegia 17
|
|
0.840 |
GeneticVariation
|
UNIPROT |
Application of whole exome sequencing in undiagnosed inherited polyneuropathies.
|
24604904 |
2014 |
|
Spastic paraplegia 17
|
|
0.840 |
CausalMutation
|
CLINVAR |
Heterozygosity for mutations (N88S and P90L) in the N-glycosylation site of seipin/BSCL2 is associated with the autosomal dominant motor neuron diseases, spastic paraplegia 17 and distal hereditary motor neuropathy type V, referred to as 'seipinopathies'.
|
21750110 |
2011 |
|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
|
|
0.840 |
GeneticVariation
|
BEFREE |
Heterozygosity for mutations (N88S and P90L) in the N-glycosylation site of seipin/BSCL2 is associated with the autosomal dominant motor neuron diseases, spastic paraplegia 17 and distal hereditary motor neuropathy type V, referred to as 'seipinopathies'.
|
21750110 |
2011 |
|
Spastic paraplegia 17
|
|
0.840 |
GeneticVariation
|
BEFREE |
Heterozygosity for mutations (N88S and P90L) in the N-glycosylation site of seipin/BSCL2 is associated with the autosomal dominant motor neuron diseases, spastic paraplegia 17 and distal hereditary motor neuropathy type V, referred to as 'seipinopathies'.
|
21750110 |
2011 |
|
Spastic paraplegia 17
|
|
0.840 |
GeneticVariation
|
BEFREE |
N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome.
|
20598714 |
2010 |
|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
|
|
0.840 |
GeneticVariation
|
BEFREE |
N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome.
|
20598714 |
2010 |
|
Spastic paraplegia 17
|
|
0.840 |
CausalMutation
|
CLINVAR |
Seipinopathy: a novel endoplasmic reticulum stress-associated disease.
|
18790819 |
2009 |
|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
|
|
0.840 |
GeneticVariation
|
BEFREE |
Recently, gain-of-toxic-function mutations (namely, mutations N88S and S90L) in the seipin gene have been identified in autosomal dominant motor neuron diseases such as Silver syndrome/spastic paraplegia 17 (SPG17) (OMIM #270685) and distal hereditary motor neuropathy type V (dHMN-V) (OMIM #182960).
|
18790819 |
2009 |
|
Spastic paraplegia 17
|
|
0.840 |
GeneticVariation
|
BEFREE |
Here we report the third Italian family with dHMN and SPG17 in which two affected members harbor the heterozygous N88S mutation in the BSCL2 gene.
|
18612770 |
2008 |
|
Spastic paraplegia 17
|
|
0.840 |
GeneticVariation
|
UNIPROT |
Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17.
|
18585921 |
2008 |
|
Spastic paraplegia 17
|
|
0.840 |
CausalMutation
|
CLINVAR |
Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases.
|
17387721 |
2007 |
|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
|
|
0.840 |
GeneticVariation
|
BEFREE |
Our data confirm that most likely only two mutations (N88S, S90L) in exon 3 of BSCL2 may lead to dHMN-V or SS phenotypes.Mutations in GARS, HSPB1 and HSPB8. are not a common cause of dHMN-V, SS and CMT2D.
|
17663003 |
2007 |
|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
|
|
0.840 |
GeneticVariation
|
UNIPROT |
Four patients diagnosed with dHMN-V or SS carried known heterozygous BSCL2 mutations (N88S and S90L).
|
17663003 |
2007 |
|
Spastic paraplegia 17
|
|
0.840 |
GeneticVariation
|
BEFREE |
Four patients diagnosed with dHMN-V or SS carried known heterozygous BSCL2 mutations (N88S and S90L).
|
17663003 |
2007 |
|
Spastic paraplegia 17
|
|
0.840 |
GeneticVariation
|
UNIPROT |
Four patients diagnosed with dHMN-V or SS carried known heterozygous BSCL2 mutations (N88S and S90L).
|
17663003 |
2007 |
|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
|
|
0.840 |
GeneticVariation
|
UNIPROT |
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
|
14981520 |
2004 |
|
Spastic paraplegia 17
|
|
0.840 |
GeneticVariation
|
UNIPROT |
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
|
14981520 |
2004 |
|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
|
|
0.840 |
CausalMutation
|
CLINVAR |
|
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
BSCL2 N88S mutation in a Portuguese patient with the Silver syndrome.
|
25219579 |
2015 |
|
Hereditary Motor and Sensory-Neuropathy Type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical and electrophysiological features in a French family presenting with seipinopathy.
|
25454168 |
2015 |
|
Hereditary Motor and Sensory-Neuropathy Type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
Motor neuropathy-associated mutation impairs Seipin functions in neurotransmission.
|
24345054 |
2014 |
|
Hereditary Motor and Sensory-Neuropathy Type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation.
|
23553728 |
2013 |
|
Hereditary Motor and Sensory-Neuropathy Type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
Characterization of inclusion bodies with cytoprotective properties formed by seipinopathy-linked mutant seipin.
|
22045697 |
2012 |
|
Hereditary Motor and Sensory-Neuropathy Type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular characterization of seipin and its mutants: implications for seipin in triacylglycerol synthesis.
|
21957196 |
2011 |
|
Hereditary Motor and Sensory-Neuropathy Type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome.
|
20598714 |
2010 |