Matches in SemOpenAlex for { <https://semopenalex.org/work/W3004435985> ?p ?o ?g. }
Showing items 1 to 96 of
96
with 100 items per page.
- W3004435985 endingPage "185" @default.
- W3004435985 startingPage "181" @default.
- W3004435985 abstract "We determined the prevalence of genetically determined neuromuscular diseases in adult Norwegian patients from Hordaland County. We identified patients using International Classification of Disease codes registered in our hospital database and reviewed patient notes to ensure diagnostic accuracy. To ensure maximal ascertainment, we screened both inpatient and outpatient contacts from two 5-year periods 01.01.2005 to 31.12.2009 and 01.01.2008 to 01.01.2013, and used the second data set to define prevalence.Myotonic dystrophy was the commonest adult muscle disorder with a minimum prevalence of 11.84/100,000 followed by facioscapulohumeral muscular dystrophy at 6.42/100,000. Genetically confirmed limb-girdle muscular dystrophies had a prevalence of 4.2/100,000 with CAPN3 mutations being the commonest followed by mutations in ANO5 and FKRP. Becker muscular dystrophy was rare (0.4/100,000). For the purposes of comparison, we also ascertained adults with spinal muscular atrophy (SMA) and found a prevalence of 4.42/100,000.The impact of neuromuscular disease is enormous both for the patient and for society. Progressive weakness and increasing dependency together with pulmonary and cardiac complications require specialised, multidisciplinary follow up. The provision of such care places substantial demands on health service resources. Thus, precise understanding of both type of neuromuscular disease and numbers of patients is essential in order to manage individuals appropriately and plan future health service needs." @default.
- W3004435985 created "2020-02-14" @default.
- W3004435985 creator A5015556591 @default.
- W3004435985 creator A5031658824 @default.
- W3004435985 creator A5044488336 @default.
- W3004435985 creator A5049027598 @default.
- W3004435985 creator A5052221509 @default.
- W3004435985 date "2020-03-01" @default.
- W3004435985 modified "2023-09-25" @default.
- W3004435985 title "A hospital based epidemiological study of genetically determined muscle disease in south western Norway" @default.
- W3004435985 cites W1999113624 @default.
- W3004435985 cites W2010421418 @default.
- W3004435985 cites W2063623639 @default.
- W3004435985 cites W2072939440 @default.
- W3004435985 cites W2083342976 @default.
- W3004435985 cites W2084703547 @default.
- W3004435985 cites W2116578012 @default.
- W3004435985 cites W2119820612 @default.
- W3004435985 cites W2411398599 @default.
- W3004435985 cites W2787482106 @default.
- W3004435985 cites W2791694547 @default.
- W3004435985 cites W4232968742 @default.
- W3004435985 doi "https://doi.org/10.1016/j.nmd.2020.01.006" @default.
- W3004435985 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32146000" @default.
- W3004435985 hasPublicationYear "2020" @default.
- W3004435985 type Work @default.
- W3004435985 sameAs 3004435985 @default.
- W3004435985 citedByCount "8" @default.
- W3004435985 countsByYear W30044359852020 @default.
- W3004435985 countsByYear W30044359852021 @default.
- W3004435985 countsByYear W30044359852022 @default.
- W3004435985 countsByYear W30044359852023 @default.
- W3004435985 crossrefType "journal-article" @default.
- W3004435985 hasAuthorship W3004435985A5015556591 @default.
- W3004435985 hasAuthorship W3004435985A5031658824 @default.
- W3004435985 hasAuthorship W3004435985A5044488336 @default.
- W3004435985 hasAuthorship W3004435985A5049027598 @default.
- W3004435985 hasAuthorship W3004435985A5052221509 @default.
- W3004435985 hasBestOaLocation W30044359851 @default.
- W3004435985 hasConcept C104317684 @default.
- W3004435985 hasConcept C107130276 @default.
- W3004435985 hasConcept C126322002 @default.
- W3004435985 hasConcept C185592680 @default.
- W3004435985 hasConcept C1862650 @default.
- W3004435985 hasConcept C187212893 @default.
- W3004435985 hasConcept C2776356578 @default.
- W3004435985 hasConcept C2778063965 @default.
- W3004435985 hasConcept C2778558090 @default.
- W3004435985 hasConcept C2778649560 @default.
- W3004435985 hasConcept C2778959093 @default.
- W3004435985 hasConcept C2779030066 @default.
- W3004435985 hasConcept C2779134260 @default.
- W3004435985 hasConcept C2779981540 @default.
- W3004435985 hasConcept C2780596555 @default.
- W3004435985 hasConcept C501734568 @default.
- W3004435985 hasConcept C55493867 @default.
- W3004435985 hasConcept C71924100 @default.
- W3004435985 hasConceptScore W3004435985C104317684 @default.
- W3004435985 hasConceptScore W3004435985C107130276 @default.
- W3004435985 hasConceptScore W3004435985C126322002 @default.
- W3004435985 hasConceptScore W3004435985C185592680 @default.
- W3004435985 hasConceptScore W3004435985C1862650 @default.
- W3004435985 hasConceptScore W3004435985C187212893 @default.
- W3004435985 hasConceptScore W3004435985C2776356578 @default.
- W3004435985 hasConceptScore W3004435985C2778063965 @default.
- W3004435985 hasConceptScore W3004435985C2778558090 @default.
- W3004435985 hasConceptScore W3004435985C2778649560 @default.
- W3004435985 hasConceptScore W3004435985C2778959093 @default.
- W3004435985 hasConceptScore W3004435985C2779030066 @default.
- W3004435985 hasConceptScore W3004435985C2779134260 @default.
- W3004435985 hasConceptScore W3004435985C2779981540 @default.
- W3004435985 hasConceptScore W3004435985C2780596555 @default.
- W3004435985 hasConceptScore W3004435985C501734568 @default.
- W3004435985 hasConceptScore W3004435985C55493867 @default.
- W3004435985 hasConceptScore W3004435985C71924100 @default.
- W3004435985 hasIssue "3" @default.
- W3004435985 hasLocation W30044359851 @default.
- W3004435985 hasOpenAccess W3004435985 @default.
- W3004435985 hasPrimaryLocation W30044359851 @default.
- W3004435985 hasRelatedWork W128807405 @default.
- W3004435985 hasRelatedWork W1582799960 @default.
- W3004435985 hasRelatedWork W2042084479 @default.
- W3004435985 hasRelatedWork W2083077431 @default.
- W3004435985 hasRelatedWork W2116927707 @default.
- W3004435985 hasRelatedWork W2154747396 @default.
- W3004435985 hasRelatedWork W2429764828 @default.
- W3004435985 hasRelatedWork W2771151476 @default.
- W3004435985 hasRelatedWork W2976088292 @default.
- W3004435985 hasRelatedWork W3203544397 @default.
- W3004435985 hasVolume "30" @default.
- W3004435985 isParatext "false" @default.
- W3004435985 isRetracted "false" @default.
- W3004435985 magId "3004435985" @default.
- W3004435985 workType "article" @default.