FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1969923988> ?p ?o ?g. }

• W1969923988 endingPage "460" @default.
• W1969923988 startingPage "456" @default.
• W1969923988 abstract "Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies which is related to the deletion of tandem repeats on chromosome 4q35. Extramuscular features such as hearing loss, retinopathy, mental retardation, and epilepsy, may be observed in patients carrying large 4q35 deletions resulting in fragment sizes less than 12 kilobases (kb) (normal >35 kb). We report on a family affected by FSHD carrying a small 4q35 deletion and residual fragments length of 17 kb, presenting with epilepsy (three patients), speech delay (two), and mental retardation (one). In all patients semeiology of seizures and interictal EEG anomalies were congruent with a localization-related epilepsy possibly involving the temporal lobe. In conclusion, we provide further evidences that extramuscular findings such as epilepsy, speech delay, and mental retardation may occur in those patients carrying smaller 4q35 deletions, suggesting that a close correlation between 4q35 fragment size and clinical severity in FSHD is therefore not constant. Moreover, a review of the literature and our observations seem to suggest that focal epilepsies, likely related to the temporal lobe in the present family, represent the main type of epilepsy occurring in children with FSHD." @default.
• W1969923988 created "2016-06-24" @default.
• W1969923988 creator A5013585220 @default.
• W1969923988 creator A5021199798 @default.
• W1969923988 creator A5033179657 @default.
• W1969923988 creator A5044728463 @default.
• W1969923988 creator A5056786539 @default.
• W1969923988 date "2011-09-01" @default.
• W1969923988 modified "2023-09-27" @default.
• W1969923988 title "Epilepsy, speech delay, and mental retardation in facioscapulohumeral muscular dystrophy" @default.
• W1969923988 cites W1964930281 @default.
• W1969923988 cites W1965824542 @default.
• W1969923988 cites W1966805460 @default.
• W1969923988 cites W1976793535 @default.
• W1969923988 cites W1977234267 @default.
• W1969923988 cites W2004474116 @default.
• W1969923988 cites W2010580448 @default.
• W1969923988 cites W2011561015 @default.
• W1969923988 cites W2036185416 @default.
• W1969923988 cites W2041851175 @default.
• W1969923988 cites W2058511187 @default.
• W1969923988 cites W2063610449 @default.
• W1969923988 cites W2074867226 @default.
• W1969923988 cites W2075377722 @default.
• W1969923988 cites W2079268144 @default.
• W1969923988 cites W2082127114 @default.
• W1969923988 cites W2084250062 @default.
• W1969923988 cites W2086775164 @default.
• W1969923988 cites W2092522823 @default.
• W1969923988 cites W2097758374 @default.
• W1969923988 cites W2110852424 @default.
• W1969923988 cites W2111994994 @default.
• W1969923988 cites W2139729438 @default.
• W1969923988 cites W2145664048 @default.
• W1969923988 cites W2163868680 @default.
• W1969923988 cites W2312705379 @default.
• W1969923988 doi "https://doi.org/10.1016/j.ejpn.2011.04.003" @default.
• W1969923988 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21763164" @default.
• W1969923988 hasPublicationYear "2011" @default.
• W1969923988 type Work @default.
• W1969923988 sameAs 1969923988 @default.
• W1969923988 citedByCount "14" @default.
• W1969923988 countsByYear W19699239882013 @default.
• W1969923988 countsByYear W19699239882015 @default.
• W1969923988 countsByYear W19699239882016 @default.
• W1969923988 countsByYear W19699239882017 @default.
• W1969923988 countsByYear W19699239882018 @default.
• W1969923988 countsByYear W19699239882019 @default.
• W1969923988 countsByYear W19699239882020 @default.
• W1969923988 countsByYear W19699239882021 @default.
• W1969923988 countsByYear W19699239882023 @default.
• W1969923988 crossrefType "journal-article" @default.
• W1969923988 hasAuthorship W1969923988A5013585220 @default.
• W1969923988 hasAuthorship W1969923988A5021199798 @default.
• W1969923988 hasAuthorship W1969923988A5033179657 @default.
• W1969923988 hasAuthorship W1969923988A5044728463 @default.
• W1969923988 hasAuthorship W1969923988A5056786539 @default.
• W1969923988 hasConcept C126322002 @default.
• W1969923988 hasConcept C15744967 @default.
• W1969923988 hasConcept C169760540 @default.
• W1969923988 hasConcept C187212893 @default.
• W1969923988 hasConcept C2778186239 @default.
• W1969923988 hasConcept C2779030066 @default.
• W1969923988 hasConcept C2779688443 @default.
• W1969923988 hasConcept C2779981540 @default.
• W1969923988 hasConcept C54355233 @default.
• W1969923988 hasConcept C548259974 @default.
• W1969923988 hasConcept C71924100 @default.
• W1969923988 hasConcept C86803240 @default.
• W1969923988 hasConceptScore W1969923988C126322002 @default.
• W1969923988 hasConceptScore W1969923988C15744967 @default.
• W1969923988 hasConceptScore W1969923988C169760540 @default.
• W1969923988 hasConceptScore W1969923988C187212893 @default.
• W1969923988 hasConceptScore W1969923988C2778186239 @default.
• W1969923988 hasConceptScore W1969923988C2779030066 @default.
• W1969923988 hasConceptScore W1969923988C2779688443 @default.
• W1969923988 hasConceptScore W1969923988C2779981540 @default.
• W1969923988 hasConceptScore W1969923988C54355233 @default.
• W1969923988 hasConceptScore W1969923988C548259974 @default.
• W1969923988 hasConceptScore W1969923988C71924100 @default.
• W1969923988 hasConceptScore W1969923988C86803240 @default.
• W1969923988 hasIssue "5" @default.
• W1969923988 hasLocation W19699239881 @default.
• W1969923988 hasLocation W19699239882 @default.
• W1969923988 hasOpenAccess W1969923988 @default.
• W1969923988 hasPrimaryLocation W19699239881 @default.
• W1969923988 hasRelatedWork W1969923988 @default.
• W1969923988 hasRelatedWork W1986936656 @default.
• W1969923988 hasRelatedWork W2074134501 @default.
• W1969923988 hasRelatedWork W2148476856 @default.
• W1969923988 hasRelatedWork W2399192248 @default.
• W1969923988 hasRelatedWork W2748952813 @default.
• W1969923988 hasRelatedWork W2899084033 @default.
• W1969923988 hasRelatedWork W4221044375 @default.
• W1969923988 hasRelatedWork W4231068709 @default.
• W1969923988 hasRelatedWork W79490635 @default.
• W1969923988 hasVolume "15" @default.
• W1969923988 isParatext "false" @default.

• next