Condition: SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT


rs121918262 in REEP1 gene and SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT PMID 24478229 2014 Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology.

PMID 22703882 2012 Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.

PMID 16826527 2006 Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.

PMID 18644145 2008 Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).

PMID 21618648 2011 REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.

PMID 26201691 2015 Hereditary spastic paraplegia-linked REEP1 modulates endoplasmic reticulum/mitochondria contacts.

PMID 20718791 2011 Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.

PMID 19034539 2009 New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP).

PMID 29629531 2018 Pathogenic Variant of REEP1 in a Korean Family with Autosomal-Dominant Hereditary Spastic Paraplegia.

PMID 18321925 2008 REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.