Matches in SemOpenAlex for { <https://semopenalex.org/work/W2014273610> ?p ?o ?g. }
Showing items 1 to 97 of
97
with 100 items per page.
- W2014273610 endingPage "45" @default.
- W2014273610 startingPage "43" @default.
- W2014273610 abstract "Hereditary Spastic Paraplegias (HSP) encompass a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by insidiously progressive weakness and spasticity of the lower extremities. We describe a consanguineous Saudi family segregating a complicated form of HSP in an autosomal recessive pattern. The two affected siblings had early onset, cognitive, speech and motor involvement with spasticity of the lower extremities. Their upper extremities were mildly hypertonic. An intronic splice acceptor site mutation in ERLIN2 was found to be responsible for causing this disorder found in this family. ERLIN2 is a mediator of endoplasmic reticulum degradation pathway (ERAD) which helps to remove the aberrant proteins. Our results, in concurrence with previous studies suggest that alteration in ERLIN2 is one of the causes of complicated HSP, thereby increasing the spectrum of known mutations in SPG18. ► This is a second report for a Saudi family segregating a complicated form ARHSP. ► An intronic splice acceptor site mutation in ERLIN2 was found. ► ERLIN2 mutation was found to be responsible for causing disorder in this family. ► Importance of ERLIN2 gene mutations in SPG18. ► In carrier testing and genetic counselling." @default.
- W2014273610 created "2016-06-24" @default.
- W2014273610 creator A5021342164 @default.
- W2014273610 creator A5022181942 @default.
- W2014273610 creator A5026575327 @default.
- W2014273610 creator A5049417733 @default.
- W2014273610 creator A5068032991 @default.
- W2014273610 creator A5069130203 @default.
- W2014273610 creator A5090884228 @default.
- W2014273610 date "2013-01-01" @default.
- W2014273610 modified "2023-09-23" @default.
- W2014273610 title "A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family" @default.
- W2014273610 cites W1965967564 @default.
- W2014273610 cites W1981361420 @default.
- W2014273610 cites W2008857107 @default.
- W2014273610 cites W2072735392 @default.
- W2014273610 cites W2081104776 @default.
- W2014273610 cites W2090851195 @default.
- W2014273610 cites W2107808129 @default.
- W2014273610 cites W2116008044 @default.
- W2014273610 cites W2118094114 @default.
- W2014273610 cites W2169537272 @default.
- W2014273610 doi "https://doi.org/10.1016/j.ejmg.2012.10.003" @default.
- W2014273610 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23085305" @default.
- W2014273610 hasPublicationYear "2013" @default.
- W2014273610 type Work @default.
- W2014273610 sameAs 2014273610 @default.
- W2014273610 citedByCount "17" @default.
- W2014273610 countsByYear W20142736102014 @default.
- W2014273610 countsByYear W20142736102015 @default.
- W2014273610 countsByYear W20142736102016 @default.
- W2014273610 countsByYear W20142736102018 @default.
- W2014273610 countsByYear W20142736102019 @default.
- W2014273610 countsByYear W20142736102020 @default.
- W2014273610 countsByYear W20142736102021 @default.
- W2014273610 countsByYear W20142736102022 @default.
- W2014273610 countsByYear W20142736102023 @default.
- W2014273610 crossrefType "journal-article" @default.
- W2014273610 hasAuthorship W2014273610A5021342164 @default.
- W2014273610 hasAuthorship W2014273610A5022181942 @default.
- W2014273610 hasAuthorship W2014273610A5026575327 @default.
- W2014273610 hasAuthorship W2014273610A5049417733 @default.
- W2014273610 hasAuthorship W2014273610A5068032991 @default.
- W2014273610 hasAuthorship W2014273610A5069130203 @default.
- W2014273610 hasAuthorship W2014273610A5090884228 @default.
- W2014273610 hasConcept C104317684 @default.
- W2014273610 hasConcept C127716648 @default.
- W2014273610 hasConcept C2776195251 @default.
- W2014273610 hasConcept C2779012798 @default.
- W2014273610 hasConcept C2779421357 @default.
- W2014273610 hasConcept C2780395223 @default.
- W2014273610 hasConcept C2780989783 @default.
- W2014273610 hasConcept C501734568 @default.
- W2014273610 hasConcept C54355233 @default.
- W2014273610 hasConcept C54458228 @default.
- W2014273610 hasConcept C62257209 @default.
- W2014273610 hasConcept C67705224 @default.
- W2014273610 hasConcept C71924100 @default.
- W2014273610 hasConcept C86803240 @default.
- W2014273610 hasConcept C99508421 @default.
- W2014273610 hasConceptScore W2014273610C104317684 @default.
- W2014273610 hasConceptScore W2014273610C127716648 @default.
- W2014273610 hasConceptScore W2014273610C2776195251 @default.
- W2014273610 hasConceptScore W2014273610C2779012798 @default.
- W2014273610 hasConceptScore W2014273610C2779421357 @default.
- W2014273610 hasConceptScore W2014273610C2780395223 @default.
- W2014273610 hasConceptScore W2014273610C2780989783 @default.
- W2014273610 hasConceptScore W2014273610C501734568 @default.
- W2014273610 hasConceptScore W2014273610C54355233 @default.
- W2014273610 hasConceptScore W2014273610C54458228 @default.
- W2014273610 hasConceptScore W2014273610C62257209 @default.
- W2014273610 hasConceptScore W2014273610C67705224 @default.
- W2014273610 hasConceptScore W2014273610C71924100 @default.
- W2014273610 hasConceptScore W2014273610C86803240 @default.
- W2014273610 hasConceptScore W2014273610C99508421 @default.
- W2014273610 hasIssue "1" @default.
- W2014273610 hasLocation W20142736101 @default.
- W2014273610 hasLocation W20142736102 @default.
- W2014273610 hasOpenAccess W2014273610 @default.
- W2014273610 hasPrimaryLocation W20142736101 @default.
- W2014273610 hasRelatedWork W1975279309 @default.
- W2014273610 hasRelatedWork W1979908459 @default.
- W2014273610 hasRelatedWork W1983954245 @default.
- W2014273610 hasRelatedWork W2098325466 @default.
- W2014273610 hasRelatedWork W2165021820 @default.
- W2014273610 hasRelatedWork W2385130702 @default.
- W2014273610 hasRelatedWork W2415169882 @default.
- W2014273610 hasRelatedWork W2731978562 @default.
- W2014273610 hasRelatedWork W2733300197 @default.
- W2014273610 hasRelatedWork W4242834829 @default.
- W2014273610 hasVolume "56" @default.
- W2014273610 isParatext "false" @default.
- W2014273610 isRetracted "false" @default.
- W2014273610 magId "2014273610" @default.
- W2014273610 workType "article" @default.