FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2127189391> ?p ?o ?g. }

• W2127189391 endingPage "618" @default.
• W2127189391 startingPage "613" @default.
• W2127189391 abstract "Dysferlinopathy refers to a variety of autosomal recessive, skeletal muscle disorders due to the mutations of dysferlin-encoding gene, DYSF. It encompasses limb-girdle muscular dystrophy type 2B (LGMD2B), Miyoshi myopathy (MM), distal myopathy with anterior tibial onset (DMAT), isolated hyperCKemia, rigid spine syndrome and congenital muscular dystrophy. Herein, we report five Thai patients with distal myopathy due to dysferlinopathy including four MM and one DMAT patients. Muscle biopsy from one MM patient depicted numerous ring fibers which is an atypical finding in dysferlinopathy. Mutation analysis of DYSF revealed novel compound heterozygous mutations of p.Tyr309X and c.236+1G>T in two related MM patients, known homozygous mutations, p.Arg89X and p.Gln176X, in two MM patients and a heterozygous missense mutation, p.Arg555Trp, in a DMAT patient. Most of the previously reported DMAT patients were Hispanic. To the best of our knowledge, this is the first report of genetically confirmed patients with dysferlinopathy in Thailand." @default.
• W2127189391 created "2016-06-24" @default.
• W2127189391 creator A5008182946 @default.
• W2127189391 creator A5009491317 @default.
• W2127189391 creator A5015822957 @default.
• W2127189391 creator A5016404760 @default.
• W2127189391 creator A5029027345 @default.
• W2127189391 creator A5030691405 @default.
• W2127189391 creator A5036571103 @default.
• W2127189391 creator A5040605657 @default.
• W2127189391 creator A5048865916 @default.
• W2127189391 creator A5052876527 @default.
• W2127189391 creator A5055400900 @default.
• W2127189391 creator A5055992486 @default.
• W2127189391 creator A5069310256 @default.
• W2127189391 creator A5070147235 @default.
• W2127189391 creator A5078822685 @default.
• W2127189391 date "2009-09-01" @default.
• W2127189391 modified "2023-10-16" @default.
• W2127189391 title "Novel DYSF mutations in Thai patients with distal myopathy" @default.
• W2127189391 cites W1551910894 @default.
• W2127189391 cites W1977421049 @default.
• W2127189391 cites W1983836253 @default.
• W2127189391 cites W1988551020 @default.
• W2127189391 cites W2001246445 @default.
• W2127189391 cites W2001819224 @default.
• W2127189391 cites W2002553139 @default.
• W2127189391 cites W2010440533 @default.
• W2127189391 cites W2016276708 @default.
• W2127189391 cites W2018391805 @default.
• W2127189391 cites W2024906556 @default.
• W2127189391 cites W2026087624 @default.
• W2127189391 cites W2030700904 @default.
• W2127189391 cites W2044961889 @default.
• W2127189391 cites W2045584862 @default.
• W2127189391 cites W2047136624 @default.
• W2127189391 cites W2067458775 @default.
• W2127189391 cites W2071561873 @default.
• W2127189391 cites W2076939004 @default.
• W2127189391 cites W2097780430 @default.
• W2127189391 cites W2099194855 @default.
• W2127189391 cites W2109931578 @default.
• W2127189391 cites W2122016236 @default.
• W2127189391 cites W2161336300 @default.
• W2127189391 cites W2327886062 @default.
• W2127189391 doi "https://doi.org/10.1016/j.clineuro.2009.05.001" @default.
• W2127189391 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/19493611" @default.
• W2127189391 hasPublicationYear "2009" @default.
• W2127189391 type Work @default.
• W2127189391 sameAs 2127189391 @default.
• W2127189391 citedByCount "11" @default.
• W2127189391 countsByYear W21271893912012 @default.
• W2127189391 countsByYear W21271893912013 @default.
• W2127189391 countsByYear W21271893912015 @default.
• W2127189391 countsByYear W21271893912016 @default.
• W2127189391 countsByYear W21271893912017 @default.
• W2127189391 countsByYear W21271893912018 @default.
• W2127189391 countsByYear W21271893912023 @default.
• W2127189391 crossrefType "journal-article" @default.
• W2127189391 hasAuthorship W2127189391A5008182946 @default.
• W2127189391 hasAuthorship W2127189391A5009491317 @default.
• W2127189391 hasAuthorship W2127189391A5015822957 @default.
• W2127189391 hasAuthorship W2127189391A5016404760 @default.
• W2127189391 hasAuthorship W2127189391A5029027345 @default.
• W2127189391 hasAuthorship W2127189391A5030691405 @default.
• W2127189391 hasAuthorship W2127189391A5036571103 @default.
• W2127189391 hasAuthorship W2127189391A5040605657 @default.
• W2127189391 hasAuthorship W2127189391A5048865916 @default.
• W2127189391 hasAuthorship W2127189391A5052876527 @default.
• W2127189391 hasAuthorship W2127189391A5055400900 @default.
• W2127189391 hasAuthorship W2127189391A5055992486 @default.
• W2127189391 hasAuthorship W2127189391A5069310256 @default.
• W2127189391 hasAuthorship W2127189391A5070147235 @default.
• W2127189391 hasAuthorship W2127189391A5078822685 @default.
• W2127189391 hasConcept C104317684 @default.
• W2127189391 hasConcept C12125453 @default.
• W2127189391 hasConcept C126322002 @default.
• W2127189391 hasConcept C142724271 @default.
• W2127189391 hasConcept C2775934546 @default.
• W2127189391 hasConcept C2777300911 @default.
• W2127189391 hasConcept C2778649560 @default.
• W2127189391 hasConcept C2779030066 @default.
• W2127189391 hasConcept C2779438767 @default.
• W2127189391 hasConcept C2779999465 @default.
• W2127189391 hasConcept C37113945 @default.
• W2127189391 hasConcept C501734568 @default.
• W2127189391 hasConcept C54355233 @default.
• W2127189391 hasConcept C71924100 @default.
• W2127189391 hasConcept C75563809 @default.
• W2127189391 hasConcept C86803240 @default.
• W2127189391 hasConceptScore W2127189391C104317684 @default.
• W2127189391 hasConceptScore W2127189391C12125453 @default.
• W2127189391 hasConceptScore W2127189391C126322002 @default.
• W2127189391 hasConceptScore W2127189391C142724271 @default.
• W2127189391 hasConceptScore W2127189391C2775934546 @default.
• W2127189391 hasConceptScore W2127189391C2777300911 @default.
• W2127189391 hasConceptScore W2127189391C2778649560 @default.
• W2127189391 hasConceptScore W2127189391C2779030066 @default.

• next