FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2954019292> ?p ?o ?g. }

• W2954019292 endingPage "617" @default.
• W2954019292 startingPage "614" @default.
• W2954019292 abstract "Mutations in GMPPB cause a wide spectrum of neuromuscular syndromes, including muscular dystrophies and congenital myasthenic syndrome. The mechanisms by which GMPPB mutations impair neuromuscular transmission however remain incompletely understood. We expand here upon a previous report of one such patient presenting with a myopathy-congenital myasthenic syndrome overlap phenotype. Fatigable proximal muscle weakness developed gradually between 13 and 25 years of age, with subsequent stabilization. Low-frequency repetitive nerve stimulation showed a decrement, while a muscle biopsy demonstrated the presence of a centronuclear myopathy. Genetic testing identified a homozygous c.458C > T (p.Thr153Ile) variant in GMPPB. In-vitro microelectrode recordings and ultrastructural studies showed impairment of both pre- and postsynaptic neuromuscular transmission, thus demonstrating the presence of not only postsynaptic, but also presynaptic pathology in GMPPB-related disorders." @default.
• W2954019292 created "2019-07-12" @default.
• W2954019292 creator A5012431384 @default.
• W2954019292 creator A5020189594 @default.
• W2954019292 creator A5029027345 @default.
• W2954019292 creator A5044520063 @default.
• W2954019292 creator A5052886370 @default.
• W2954019292 creator A5075451524 @default.
• W2954019292 date "2019-08-01" @default.
• W2954019292 modified "2023-10-16" @default.
• W2954019292 title "A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission" @default.
• W2954019292 cites W1981755305 @default.
• W2954019292 cites W2105677012 @default.
• W2954019292 cites W2121890003 @default.
• W2954019292 cites W2127693756 @default.
• W2954019292 cites W2135865993 @default.
• W2954019292 cites W2158184768 @default.
• W2954019292 cites W2179856055 @default.
• W2954019292 cites W2346487088 @default.
• W2954019292 cites W2591909947 @default.
• W2954019292 cites W2755772215 @default.
• W2954019292 cites W2758820279 @default.
• W2954019292 cites W2892587991 @default.
• W2954019292 doi "https://doi.org/10.1016/j.nmd.2019.07.001" @default.
• W2954019292 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6897485" @default.
• W2954019292 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31378432" @default.
• W2954019292 hasPublicationYear "2019" @default.
• W2954019292 type Work @default.
• W2954019292 sameAs 2954019292 @default.
• W2954019292 citedByCount "10" @default.
• W2954019292 countsByYear W29540192922019 @default.
• W2954019292 countsByYear W29540192922020 @default.
• W2954019292 countsByYear W29540192922021 @default.
• W2954019292 countsByYear W29540192922023 @default.
• W2954019292 crossrefType "journal-article" @default.
• W2954019292 hasAuthorship W2954019292A5012431384 @default.
• W2954019292 hasAuthorship W2954019292A5020189594 @default.
• W2954019292 hasAuthorship W2954019292A5029027345 @default.
• W2954019292 hasAuthorship W2954019292A5044520063 @default.
• W2954019292 hasAuthorship W2954019292A5052886370 @default.
• W2954019292 hasAuthorship W2954019292A5075451524 @default.
• W2954019292 hasBestOaLocation W29540192922 @default.
• W2954019292 hasConcept C105702510 @default.
• W2954019292 hasConcept C126322002 @default.
• W2954019292 hasConcept C142724271 @default.
• W2954019292 hasConcept C169760540 @default.
• W2954019292 hasConcept C170493617 @default.
• W2954019292 hasConcept C197341189 @default.
• W2954019292 hasConcept C2775934546 @default.
• W2954019292 hasConcept C2777210258 @default.
• W2954019292 hasConcept C2777240379 @default.
• W2954019292 hasConcept C2777300911 @default.
• W2954019292 hasConcept C2778105408 @default.
• W2954019292 hasConcept C2779999465 @default.
• W2954019292 hasConcept C2780156709 @default.
• W2954019292 hasConcept C2780247198 @default.
• W2954019292 hasConcept C3020341438 @default.
• W2954019292 hasConcept C71924100 @default.
• W2954019292 hasConcept C80161118 @default.
• W2954019292 hasConcept C86803240 @default.
• W2954019292 hasConceptScore W2954019292C105702510 @default.
• W2954019292 hasConceptScore W2954019292C126322002 @default.
• W2954019292 hasConceptScore W2954019292C142724271 @default.
• W2954019292 hasConceptScore W2954019292C169760540 @default.
• W2954019292 hasConceptScore W2954019292C170493617 @default.
• W2954019292 hasConceptScore W2954019292C197341189 @default.
• W2954019292 hasConceptScore W2954019292C2775934546 @default.
• W2954019292 hasConceptScore W2954019292C2777210258 @default.
• W2954019292 hasConceptScore W2954019292C2777240379 @default.
• W2954019292 hasConceptScore W2954019292C2777300911 @default.
• W2954019292 hasConceptScore W2954019292C2778105408 @default.
• W2954019292 hasConceptScore W2954019292C2779999465 @default.
• W2954019292 hasConceptScore W2954019292C2780156709 @default.
• W2954019292 hasConceptScore W2954019292C2780247198 @default.
• W2954019292 hasConceptScore W2954019292C3020341438 @default.
• W2954019292 hasConceptScore W2954019292C71924100 @default.
• W2954019292 hasConceptScore W2954019292C80161118 @default.
• W2954019292 hasConceptScore W2954019292C86803240 @default.
• W2954019292 hasFunder F4320332161 @default.
• W2954019292 hasIssue "8" @default.
• W2954019292 hasLocation W29540192921 @default.
• W2954019292 hasLocation W29540192922 @default.
• W2954019292 hasLocation W29540192923 @default.
• W2954019292 hasOpenAccess W2954019292 @default.
• W2954019292 hasPrimaryLocation W29540192921 @default.
• W2954019292 hasRelatedWork W142529042 @default.
• W2954019292 hasRelatedWork W1540737813 @default.
• W2954019292 hasRelatedWork W2110555664 @default.
• W2954019292 hasRelatedWork W2160882564 @default.
• W2954019292 hasRelatedWork W2289607736 @default.
• W2954019292 hasRelatedWork W2291052355 @default.
• W2954019292 hasRelatedWork W2411985678 @default.
• W2954019292 hasRelatedWork W2971342337 @default.
• W2954019292 hasRelatedWork W4245453656 @default.
• W2954019292 hasRelatedWork W4386241564 @default.
• W2954019292 hasVolume "29" @default.
• W2954019292 isParatext "false" @default.
• W2954019292 isRetracted "false" @default.

• next