FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2329852896> ?p ?o ?g. }

• W2329852896 endingPage "1583" @default.
• W2329852896 startingPage "1578" @default.
• W2329852896 abstract "ASAH1 gene encodes for acid ceramidase that is involved in the degradation of ceramide into sphingosine and free fatty acids within lysosomes. ASAH1 variants cause both the severe and early-onset Farber disease and rare cases of spinal muscular atrophy (SMA) with progressive myoclonic epilepsy (SMA-PME), phenotypically characterized by childhood onset of proximal muscle weakness and atrophy due to spinal motor neuron degeneration followed by occurrence of severe and intractable myoclonic seizures and death in the teenage years. We studied two subjects, a 30-year-old pregnant woman and her 17-year-old sister, affected with a very slowly progressive non-5q SMA since childhood. No history of seizures or myoclonus has been reported and EEG was unremarkable. The molecular study of ASAH1 gene showed the presence of the homozygote nucleotide variation c.124A>G (r.124a>g) that causes the amino acid substitution p.Thr42Ala. Biochemical evaluation of cultured fibroblasts showed both reduction in ceramidase activity and accumulation of ceramide compared with the normal control. This study describes for the first time the association between ASAH1 variants and an adult SMA phenotype with no myoclonic epilepsy nor death in early age, thus expanding the phenotypic spectrum of ASAH1-related SMA. ASAH1 molecular analysis should be considered in the diagnostic testing of non-5q adult SMA patients." @default.
• W2329852896 created "2016-06-24" @default.
• W2329852896 creator A5000880712 @default.
• W2329852896 creator A5001416579 @default.
• W2329852896 creator A5005212113 @default.
• W2329852896 creator A5009019866 @default.
• W2329852896 creator A5016559779 @default.
• W2329852896 creator A5028523408 @default.
• W2329852896 creator A5040187157 @default.
• W2329852896 creator A5052634729 @default.
• W2329852896 creator A5055842832 @default.
• W2329852896 creator A5079021237 @default.
• W2329852896 creator A5081473300 @default.
• W2329852896 creator A5086904094 @default.
• W2329852896 creator A5089967868 @default.
• W2329852896 date "2016-03-30" @default.
• W2329852896 modified "2023-10-14" @default.
• W2329852896 title "ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study" @default.
• W2329852896 cites W1545498933 @default.
• W2329852896 cites W1911261579 @default.
• W2329852896 cites W1963580438 @default.
• W2329852896 cites W2007680256 @default.
• W2329852896 cites W2021259615 @default.
• W2329852896 cites W2043830937 @default.
• W2329852896 cites W2045791858 @default.
• W2329852896 cites W2064246472 @default.
• W2329852896 cites W2064601706 @default.
• W2329852896 cites W2083243993 @default.
• W2329852896 cites W2083471862 @default.
• W2329852896 cites W2089316501 @default.
• W2329852896 cites W2122274335 @default.
• W2329852896 cites W2143395281 @default.
• W2329852896 cites W2147781659 @default.
• W2329852896 doi "https://doi.org/10.1038/ejhg.2016.28" @default.
• W2329852896 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5110045" @default.
• W2329852896 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/27026573" @default.
• W2329852896 hasPublicationYear "2016" @default.
• W2329852896 type Work @default.
• W2329852896 sameAs 2329852896 @default.
• W2329852896 citedByCount "18" @default.
• W2329852896 countsByYear W23298528962017 @default.
• W2329852896 countsByYear W23298528962018 @default.
• W2329852896 countsByYear W23298528962019 @default.
• W2329852896 countsByYear W23298528962020 @default.
• W2329852896 countsByYear W23298528962021 @default.
• W2329852896 countsByYear W23298528962022 @default.
• W2329852896 countsByYear W23298528962023 @default.
• W2329852896 crossrefType "journal-article" @default.
• W2329852896 hasAuthorship W2329852896A5000880712 @default.
• W2329852896 hasAuthorship W2329852896A5001416579 @default.
• W2329852896 hasAuthorship W2329852896A5005212113 @default.
• W2329852896 hasAuthorship W2329852896A5009019866 @default.
• W2329852896 hasAuthorship W2329852896A5016559779 @default.
• W2329852896 hasAuthorship W2329852896A5028523408 @default.
• W2329852896 hasAuthorship W2329852896A5040187157 @default.
• W2329852896 hasAuthorship W2329852896A5052634729 @default.
• W2329852896 hasAuthorship W2329852896A5055842832 @default.
• W2329852896 hasAuthorship W2329852896A5079021237 @default.
• W2329852896 hasAuthorship W2329852896A5081473300 @default.
• W2329852896 hasAuthorship W2329852896A5086904094 @default.
• W2329852896 hasAuthorship W2329852896A5089967868 @default.
• W2329852896 hasBestOaLocation W23298528961 @default.
• W2329852896 hasConcept C104317684 @default.
• W2329852896 hasConcept C114614502 @default.
• W2329852896 hasConcept C118552586 @default.
• W2329852896 hasConcept C126322002 @default.
• W2329852896 hasConcept C127716648 @default.
• W2329852896 hasConcept C134018914 @default.
• W2329852896 hasConcept C142724271 @default.
• W2329852896 hasConcept C161921814 @default.
• W2329852896 hasConcept C2778186239 @default.
• W2329852896 hasConcept C2778558090 @default.
• W2329852896 hasConcept C2779134260 @default.
• W2329852896 hasConcept C2781467325 @default.
• W2329852896 hasConcept C33923547 @default.
• W2329852896 hasConcept C54355233 @default.
• W2329852896 hasConcept C71924100 @default.
• W2329852896 hasConcept C86803240 @default.
• W2329852896 hasConceptScore W2329852896C104317684 @default.
• W2329852896 hasConceptScore W2329852896C114614502 @default.
• W2329852896 hasConceptScore W2329852896C118552586 @default.
• W2329852896 hasConceptScore W2329852896C126322002 @default.
• W2329852896 hasConceptScore W2329852896C127716648 @default.
• W2329852896 hasConceptScore W2329852896C134018914 @default.
• W2329852896 hasConceptScore W2329852896C142724271 @default.
• W2329852896 hasConceptScore W2329852896C161921814 @default.
• W2329852896 hasConceptScore W2329852896C2778186239 @default.
• W2329852896 hasConceptScore W2329852896C2778558090 @default.
• W2329852896 hasConceptScore W2329852896C2779134260 @default.
• W2329852896 hasConceptScore W2329852896C2781467325 @default.
• W2329852896 hasConceptScore W2329852896C33923547 @default.
• W2329852896 hasConceptScore W2329852896C54355233 @default.
• W2329852896 hasConceptScore W2329852896C71924100 @default.
• W2329852896 hasConceptScore W2329852896C86803240 @default.
• W2329852896 hasIssue "11" @default.
• W2329852896 hasLocation W23298528961 @default.
• W2329852896 hasLocation W23298528962 @default.
• W2329852896 hasLocation W23298528963 @default.

• next