Condition: Spastic paraplegia 17


rs137852972 in BSCL2;HNRNPUL2-BSCL2 gene and Spastic paraplegia 17 PMID 17387721 2007 Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases.

PMID 18790819 2009 Seipinopathy: a novel endoplasmic reticulum stress-associated disease.

PMID 21750110 2011 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'.

PMID 14981520 2004 Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.

PMID 17663003 2007 Four patients diagnosed with dHMN-V or SS carried known heterozygous BSCL2 mutations (N88S and S90L).

PMID 24604904 2014 Application of whole exome sequencing in undiagnosed inherited polyneuropathies.

PMID 18585921 2008 Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17.

PMID 17663003 2007 Four patients diagnosed with dHMN-V or SS carried known heterozygous BSCL2 mutations (N88S and S90L).