Matches in SemOpenAlex for { <https://semopenalex.org/work/W2096032867> ?p ?o ?g. }
Showing items 1 to 88 of
88
with 100 items per page.
- W2096032867 endingPage "S161" @default.
- W2096032867 startingPage "S158" @default.
- W2096032867 abstract "Primary monogenic forms of dystonia manifest solely or mainly with dystonia; they have been linked to a number of genes and loci and assigned DYT numbers. The pure dystonia syndrome early-onset primary dystonia (DYT1) manifests with dominantly-inherited generalized dystonia, often with focal onset in a limb. DYT1 is caused by a GAG deletion in the TOR1A gene. Mutations in the THAP1 gene cause DYT6, a form of pure dystonia that primarily involves cranio-cervical and upper limb muscles. Patients with the dystonia plus syndrome DYT5 display levodopa-responsive dystonia sometimes associated with tremor or parkinsonism (DYT5a, mutations in GCH1); a more severe phenotype with psychomotor involvement can be seen in recessive forms (DYT5b with TH mutations, SPR-deficiency syndrome). Other forms of dystonia plus syndromes include myoclonic dystonia (DYT11) and rapid-onset dystonia-parkinsonism (DYT12). Finally, paroxysmal exertion-induced dystonia (DYT18, GLUT1 deficiency) is caused by mutations in the SLC2A1 gene (DYT9 and DYT18). It is part of the paroxysmal dystonia group and manifests with paroxystic movements sometimes associated with seizures and psychomotor developmental delay." @default.
- W2096032867 created "2016-06-24" @default.
- W2096032867 creator A5027534259 @default.
- W2096032867 creator A5066075204 @default.
- W2096032867 date "2012-01-01" @default.
- W2096032867 modified "2023-10-13" @default.
- W2096032867 title "Overview of primary monogenic dystonia" @default.
- W2096032867 cites W1874398063 @default.
- W2096032867 cites W1909814622 @default.
- W2096032867 cites W1979708588 @default.
- W2096032867 cites W2005216533 @default.
- W2096032867 cites W2010778537 @default.
- W2096032867 cites W2013441760 @default.
- W2096032867 cites W2068518800 @default.
- W2096032867 cites W2070403335 @default.
- W2096032867 cites W2074802067 @default.
- W2096032867 cites W2083614861 @default.
- W2096032867 cites W2103322282 @default.
- W2096032867 cites W2106397448 @default.
- W2096032867 cites W2106556204 @default.
- W2096032867 cites W2116616124 @default.
- W2096032867 cites W2118582599 @default.
- W2096032867 cites W2131964617 @default.
- W2096032867 cites W2132600832 @default.
- W2096032867 cites W2139231561 @default.
- W2096032867 cites W2160988431 @default.
- W2096032867 cites W2164952242 @default.
- W2096032867 cites W2167536895 @default.
- W2096032867 doi "https://doi.org/10.1016/s1353-8020(11)70049-9" @default.
- W2096032867 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22166420" @default.
- W2096032867 hasPublicationYear "2012" @default.
- W2096032867 type Work @default.
- W2096032867 sameAs 2096032867 @default.
- W2096032867 citedByCount "21" @default.
- W2096032867 countsByYear W20960328672012 @default.
- W2096032867 countsByYear W20960328672013 @default.
- W2096032867 countsByYear W20960328672014 @default.
- W2096032867 countsByYear W20960328672015 @default.
- W2096032867 countsByYear W20960328672016 @default.
- W2096032867 countsByYear W20960328672017 @default.
- W2096032867 countsByYear W20960328672019 @default.
- W2096032867 countsByYear W20960328672021 @default.
- W2096032867 countsByYear W20960328672022 @default.
- W2096032867 countsByYear W20960328672023 @default.
- W2096032867 crossrefType "journal-article" @default.
- W2096032867 hasAuthorship W2096032867A5027534259 @default.
- W2096032867 hasAuthorship W2096032867A5066075204 @default.
- W2096032867 hasConcept C118552586 @default.
- W2096032867 hasConcept C126322002 @default.
- W2096032867 hasConcept C189978740 @default.
- W2096032867 hasConcept C2776525014 @default.
- W2096032867 hasConcept C2778559928 @default.
- W2096032867 hasConcept C2779134260 @default.
- W2096032867 hasConcept C2779734285 @default.
- W2096032867 hasConcept C2780405171 @default.
- W2096032867 hasConcept C71924100 @default.
- W2096032867 hasConcept C99508421 @default.
- W2096032867 hasConceptScore W2096032867C118552586 @default.
- W2096032867 hasConceptScore W2096032867C126322002 @default.
- W2096032867 hasConceptScore W2096032867C189978740 @default.
- W2096032867 hasConceptScore W2096032867C2776525014 @default.
- W2096032867 hasConceptScore W2096032867C2778559928 @default.
- W2096032867 hasConceptScore W2096032867C2779134260 @default.
- W2096032867 hasConceptScore W2096032867C2779734285 @default.
- W2096032867 hasConceptScore W2096032867C2780405171 @default.
- W2096032867 hasConceptScore W2096032867C71924100 @default.
- W2096032867 hasConceptScore W2096032867C99508421 @default.
- W2096032867 hasLocation W20960328671 @default.
- W2096032867 hasLocation W20960328672 @default.
- W2096032867 hasOpenAccess W2096032867 @default.
- W2096032867 hasPrimaryLocation W20960328671 @default.
- W2096032867 hasRelatedWork W1551132916 @default.
- W2096032867 hasRelatedWork W2042115553 @default.
- W2096032867 hasRelatedWork W2045649370 @default.
- W2096032867 hasRelatedWork W2056964308 @default.
- W2096032867 hasRelatedWork W2163965390 @default.
- W2096032867 hasRelatedWork W2188802571 @default.
- W2096032867 hasRelatedWork W2489204523 @default.
- W2096032867 hasRelatedWork W2943384960 @default.
- W2096032867 hasRelatedWork W2990528149 @default.
- W2096032867 hasRelatedWork W4283646282 @default.
- W2096032867 hasVolume "18" @default.
- W2096032867 isParatext "false" @default.
- W2096032867 isRetracted "false" @default.
- W2096032867 magId "2096032867" @default.
- W2096032867 workType "article" @default.