FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2048739016> ?p ?o ?g. }

• W2048739016 endingPage "961" @default.
• W2048739016 startingPage "958" @default.
• W2048739016 abstract "Homozygous mutations in the gene for fatty acid 2-hydroxylase (FA2H) have been associated in humans with three neurodegenerative disorders: complicated spastic paraplegia (SPG35), leukodystrophy with spastic paraparesis and dystonia, and neurodegeneration with brain iron accumulation. Here, we describe a novel homozygous c.270+3A>T mutation in an Italian consanguineous family. In two affected brothers (age at molecular diagnosis 22y and 15y; age at last follow-up 24y and 17y), altered FA2H function led to a severe phenotype, with clinical features overlapping those of the three FA2H-associated disorders. Both patients showed childhood onset progressive spastic paraparesis, mild pyramidal and cerebellar upper limb signs, severe cognitive impairment, white-matter disease, and cerebellar, brainstem, and spinal cord atrophy. However, absence of dystonia, drowsiness episodes, and a subtle globus pallidus involvement suggested that FA2H mutations result in a clinical spectrum, rather than causing distinct disorders. Although clinical heterogeneity is apparent, larger numbers of patients are needed to establish more accurate genotype–phenotype correlations." @default.
• W2048739016 created "2016-06-24" @default.
• W2048739016 creator A5005142193 @default.
• W2048739016 creator A5033179657 @default.
• W2048739016 creator A5034206013 @default.
• W2048739016 creator A5042294694 @default.
• W2048739016 creator A5048893718 @default.
• W2048739016 creator A5055048830 @default.
• W2048739016 creator A5059636774 @default.
• W2048739016 creator A5063027767 @default.
• W2048739016 creator A5068432859 @default.
• W2048739016 creator A5082103373 @default.
• W2048739016 creator A5088639692 @default.
• W2048739016 date "2011-05-18" @default.
• W2048739016 modified "2023-10-14" @default.
• W2048739016 title "FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype" @default.
• W2048739016 cites W1967299835 @default.
• W2048739016 cites W1971677797 @default.
• W2048739016 cites W1985931266 @default.
• W2048739016 cites W2003287016 @default.
• W2048739016 cites W2019396114 @default.
• W2048739016 cites W2028237570 @default.
• W2048739016 cites W2032443375 @default.
• W2048739016 cites W2323342982 @default.
• W2048739016 doi "https://doi.org/10.1111/j.1469-8749.2011.03993.x" @default.
• W2048739016 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21592092" @default.
• W2048739016 hasPublicationYear "2011" @default.
• W2048739016 type Work @default.
• W2048739016 sameAs 2048739016 @default.
• W2048739016 citedByCount "34" @default.
• W2048739016 countsByYear W20487390162012 @default.
• W2048739016 countsByYear W20487390162013 @default.
• W2048739016 countsByYear W20487390162014 @default.
• W2048739016 countsByYear W20487390162015 @default.
• W2048739016 countsByYear W20487390162017 @default.
• W2048739016 countsByYear W20487390162018 @default.
• W2048739016 countsByYear W20487390162020 @default.
• W2048739016 countsByYear W20487390162021 @default.
• W2048739016 countsByYear W20487390162022 @default.
• W2048739016 crossrefType "journal-article" @default.
• W2048739016 hasAuthorship W2048739016A5005142193 @default.
• W2048739016 hasAuthorship W2048739016A5033179657 @default.
• W2048739016 hasAuthorship W2048739016A5034206013 @default.
• W2048739016 hasAuthorship W2048739016A5042294694 @default.
• W2048739016 hasAuthorship W2048739016A5048893718 @default.
• W2048739016 hasAuthorship W2048739016A5055048830 @default.
• W2048739016 hasAuthorship W2048739016A5059636774 @default.
• W2048739016 hasAuthorship W2048739016A5063027767 @default.
• W2048739016 hasAuthorship W2048739016A5068432859 @default.
• W2048739016 hasAuthorship W2048739016A5082103373 @default.
• W2048739016 hasAuthorship W2048739016A5088639692 @default.
• W2048739016 hasConcept C104317684 @default.
• W2048739016 hasConcept C118552586 @default.
• W2048739016 hasConcept C12125453 @default.
• W2048739016 hasConcept C127716648 @default.
• W2048739016 hasConcept C142724271 @default.
• W2048739016 hasConcept C169760540 @default.
• W2048739016 hasConcept C2776100374 @default.
• W2048739016 hasConcept C2776925932 @default.
• W2048739016 hasConcept C2778559928 @default.
• W2048739016 hasConcept C2779134260 @default.
• W2048739016 hasConcept C2780395223 @default.
• W2048739016 hasConcept C2781172350 @default.
• W2048739016 hasConcept C501734568 @default.
• W2048739016 hasConcept C54355233 @default.
• W2048739016 hasConcept C60644358 @default.
• W2048739016 hasConcept C71924100 @default.
• W2048739016 hasConcept C86803240 @default.
• W2048739016 hasConceptScore W2048739016C104317684 @default.
• W2048739016 hasConceptScore W2048739016C118552586 @default.
• W2048739016 hasConceptScore W2048739016C12125453 @default.
• W2048739016 hasConceptScore W2048739016C127716648 @default.
• W2048739016 hasConceptScore W2048739016C142724271 @default.
• W2048739016 hasConceptScore W2048739016C169760540 @default.
• W2048739016 hasConceptScore W2048739016C2776100374 @default.
• W2048739016 hasConceptScore W2048739016C2776925932 @default.
• W2048739016 hasConceptScore W2048739016C2778559928 @default.
• W2048739016 hasConceptScore W2048739016C2779134260 @default.
• W2048739016 hasConceptScore W2048739016C2780395223 @default.
• W2048739016 hasConceptScore W2048739016C2781172350 @default.
• W2048739016 hasConceptScore W2048739016C501734568 @default.
• W2048739016 hasConceptScore W2048739016C54355233 @default.
• W2048739016 hasConceptScore W2048739016C60644358 @default.
• W2048739016 hasConceptScore W2048739016C71924100 @default.
• W2048739016 hasConceptScore W2048739016C86803240 @default.
• W2048739016 hasIssue "10" @default.
• W2048739016 hasLocation W20487390161 @default.
• W2048739016 hasLocation W20487390162 @default.
• W2048739016 hasOpenAccess W2048739016 @default.
• W2048739016 hasPrimaryLocation W20487390161 @default.
• W2048739016 hasRelatedWork W1982819378 @default.
• W2048739016 hasRelatedWork W2070913319 @default.
• W2048739016 hasRelatedWork W2415098875 @default.
• W2048739016 hasRelatedWork W2764192351 @default.
• W2048739016 hasRelatedWork W2899319054 @default.
• W2048739016 hasRelatedWork W2964425933 @default.
• W2048739016 hasRelatedWork W3058981126 @default.
• W2048739016 hasRelatedWork W4206146779 @default.

• next