FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1926642173> ?p ?o ?g. }

• W1926642173 endingPage "564" @default.
• W1926642173 startingPage "558" @default.
• W1926642173 abstract "Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of genetic disorders leading to progressive muscle degeneration and often associated with cardiac complications. We present two adult siblings with childhood-onset of weakness progressing to a severe quadriparesis with the additional features of triangular tongues and biventricular cardiac dysfunction. Whole exome sequencing identified compound heterozygous missense mutations that are predicted to be pathogenic in LIMS2. Biopsy of skeletal muscle demonstrated disrupted immunostaining of LIMS2. This is the first report of mutations in LIMS2 and resulting disruption of the integrin linked kinase (ILK)-LIMS-parvin complex associated with LGMD." @default.
• W1926642173 created "2016-06-24" @default.
• W1926642173 creator A5004238443 @default.
• W1926642173 creator A5006116413 @default.
• W1926642173 creator A5014951154 @default.
• W1926642173 creator A5024422532 @default.
• W1926642173 creator A5031506785 @default.
• W1926642173 creator A5032217605 @default.
• W1926642173 creator A5038553084 @default.
• W1926642173 creator A5040878528 @default.
• W1926642173 creator A5056775376 @default.
• W1926642173 creator A5062079387 @default.
• W1926642173 creator A5065051535 @default.
• W1926642173 creator A5068881416 @default.
• W1926642173 creator A5078162538 @default.
• W1926642173 creator A5079778672 @default.
• W1926642173 creator A5085165888 @default.
• W1926642173 creator A5085846304 @default.
• W1926642173 creator A5090917194 @default.
• W1926642173 date "2015-02-26" @default.
• W1926642173 modified "2023-10-05" @default.
• W1926642173 title "LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues" @default.
• W1926642173 cites W1965438893 @default.
• W1926642173 cites W1978829361 @default.
• W1926642173 cites W1980171391 @default.
• W1926642173 cites W1983226769 @default.
• W1926642173 cites W1990452466 @default.
• W1926642173 cites W2040855509 @default.
• W1926642173 cites W2051661156 @default.
• W1926642173 cites W2052453595 @default.
• W1926642173 cites W2068778247 @default.
• W1926642173 cites W2077279113 @default.
• W1926642173 cites W2082780944 @default.
• W1926642173 cites W2087472895 @default.
• W1926642173 cites W2104839879 @default.
• W1926642173 cites W2143908337 @default.
• W1926642173 cites W2145847001 @default.
• W1926642173 cites W2169716045 @default.
• W1926642173 cites W2322393977 @default.
• W1926642173 doi "https://doi.org/10.1111/cge.12561" @default.
• W1926642173 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25589244" @default.
• W1926642173 hasPublicationYear "2015" @default.
• W1926642173 type Work @default.
• W1926642173 sameAs 1926642173 @default.
• W1926642173 citedByCount "21" @default.
• W1926642173 countsByYear W19266421732015 @default.
• W1926642173 countsByYear W19266421732016 @default.
• W1926642173 countsByYear W19266421732017 @default.
• W1926642173 countsByYear W19266421732018 @default.
• W1926642173 countsByYear W19266421732020 @default.
• W1926642173 countsByYear W19266421732021 @default.
• W1926642173 countsByYear W19266421732023 @default.
• W1926642173 crossrefType "journal-article" @default.
• W1926642173 hasAuthorship W1926642173A5004238443 @default.
• W1926642173 hasAuthorship W1926642173A5006116413 @default.
• W1926642173 hasAuthorship W1926642173A5014951154 @default.
• W1926642173 hasAuthorship W1926642173A5024422532 @default.
• W1926642173 hasAuthorship W1926642173A5031506785 @default.
• W1926642173 hasAuthorship W1926642173A5032217605 @default.
• W1926642173 hasAuthorship W1926642173A5038553084 @default.
• W1926642173 hasAuthorship W1926642173A5040878528 @default.
• W1926642173 hasAuthorship W1926642173A5056775376 @default.
• W1926642173 hasAuthorship W1926642173A5062079387 @default.
• W1926642173 hasAuthorship W1926642173A5065051535 @default.
• W1926642173 hasAuthorship W1926642173A5068881416 @default.
• W1926642173 hasAuthorship W1926642173A5078162538 @default.
• W1926642173 hasAuthorship W1926642173A5079778672 @default.
• W1926642173 hasAuthorship W1926642173A5085165888 @default.
• W1926642173 hasAuthorship W1926642173A5085846304 @default.
• W1926642173 hasAuthorship W1926642173A5090917194 @default.
• W1926642173 hasConcept C104317684 @default.
• W1926642173 hasConcept C12125453 @default.
• W1926642173 hasConcept C126322002 @default.
• W1926642173 hasConcept C142724271 @default.
• W1926642173 hasConcept C16671776 @default.
• W1926642173 hasConcept C2775934546 @default.
• W1926642173 hasConcept C2778198053 @default.
• W1926642173 hasConcept C2778649560 @default.
• W1926642173 hasConcept C2778797674 @default.
• W1926642173 hasConcept C2779030066 @default.
• W1926642173 hasConcept C2779768179 @default.
• W1926642173 hasConcept C2779999465 @default.
• W1926642173 hasConcept C2909745897 @default.
• W1926642173 hasConcept C501734568 @default.
• W1926642173 hasConcept C54355233 @default.
• W1926642173 hasConcept C71924100 @default.
• W1926642173 hasConcept C75563809 @default.
• W1926642173 hasConcept C86803240 @default.
• W1926642173 hasConceptScore W1926642173C104317684 @default.
• W1926642173 hasConceptScore W1926642173C12125453 @default.
• W1926642173 hasConceptScore W1926642173C126322002 @default.
• W1926642173 hasConceptScore W1926642173C142724271 @default.
• W1926642173 hasConceptScore W1926642173C16671776 @default.
• W1926642173 hasConceptScore W1926642173C2775934546 @default.
• W1926642173 hasConceptScore W1926642173C2778198053 @default.
• W1926642173 hasConceptScore W1926642173C2778649560 @default.
• W1926642173 hasConceptScore W1926642173C2778797674 @default.
• W1926642173 hasConceptScore W1926642173C2779030066 @default.

• next