Condition: Spastic paraplegia 15, autosomal recessive
rs1049504575 in
ZFYVE26 gene and
Spastic paraplegia 15, autosomal recessive
PMID 19805727 2009 SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum.
PMID 24833714 2014 Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
PMID 18394578 2008 Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.
PMID 23733235 2013 Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort.
PMID 19917823 2009 Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia.
PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.
PMID 27544497 2016 Spastizin mutation in hereditary spastic paraplegia with thin corpus callosum.
PMID 25497598 2015 Exome sequencing in undiagnosed inherited and sporadic ataxias.
PMID 27217339 2016 Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.