FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1743837094> ?p ?o ?g. }

• W1743837094 endingPage "905" @default.
• W1743837094 startingPage "899" @default.
• W1743837094 abstract "ABSTRACT Although all forms of dystonia share the core clinical features of involuntary dystonic dyskinesia, there is not only marked phenotypic but also etiologic heterogeneity. Isolated dystonia can be caused by mutations in TOR1A (DYT1), TUBB4 (DYT4), THAP1 (DYT6), CIZ1 (DYT23), ANO3 (DYT24), and GNAL (DYT25). Combined dystonias (with parkinsonism or myoclonus) are further subdivided into persistent ( TAF1 [DYT3], GCHI [DYT5], SGCE [DYT11], ATP1A3 [DYT12]), PRKRA (DYT16), and paroxysmal ( MR‐1 [DYT8], PRRT2 [DYT10], SLC2A1 [DYT18]. With the advent of next‐generation sequencing, an unprecedented number of new dystonia genes have recently been described, including 4 in the past 12 months. Despite the need for independent confirmation, these recent findings raise 2 important questions regarding (1) the role of genetics in dystonia overall and (2) the role of different molecular mechanisms in dystonia pathogenesis. The genetic contribution to dystonia represents a continuum ranging from genetic susceptibility factors of small effect to causative genes with markedly reduced penetrance to those with full penetrance. Equally diverse and complex are the pathways and neuronal function(s) putatively involved in dystonia pathogenesis including dopamine signaling, intracellular transport, cytoskeletal dynamics, transcriptional regulation, cell‐cycle control, ion channel function, energy metabolism, signal transduction, and detoxification mechanisms. In the next decade of dystonia research, we expect to see the discovery of additional dystonia genes and susceptibility factors. In this context, it will be of great interest to explore whether the diverse cellular functions of the known dystonia proteins may be linked to shared pathways and thus complete the complex puzzle of dystonia pathogenesis. © 2013 Movement Disorder Society" @default.
• W1743837094 created "2016-06-24" @default.
• W1743837094 creator A5006957027 @default.
• W1743837094 creator A5024773860 @default.
• W1743837094 date "2013-06-15" @default.
• W1743837094 modified "2023-10-03" @default.
• W1743837094 title "Genetics of dystonia: What's known? What's new? What's next?" @default.
• W1743837094 cites W1490093678 @default.
• W1743837094 cites W1874398063 @default.
• W1743837094 cites W1911782737 @default.
• W1743837094 cites W1964268435 @default.
• W1743837094 cites W1964963969 @default.
• W1743837094 cites W1971594090 @default.
• W1743837094 cites W1971936409 @default.
• W1743837094 cites W1975559273 @default.
• W1743837094 cites W1977573469 @default.
• W1743837094 cites W1980213732 @default.
• W1743837094 cites W1980958490 @default.
• W1743837094 cites W1983561863 @default.
• W1743837094 cites W1997720284 @default.
• W1743837094 cites W2001298341 @default.
• W1743837094 cites W2001554877 @default.
• W1743837094 cites W2002146343 @default.
• W1743837094 cites W2003934444 @default.
• W1743837094 cites W2008293442 @default.
• W1743837094 cites W2010129580 @default.
• W1743837094 cites W2010778537 @default.
• W1743837094 cites W2014829380 @default.
• W1743837094 cites W2019788628 @default.
• W1743837094 cites W2020807438 @default.
• W1743837094 cites W2032434406 @default.
• W1743837094 cites W2033630469 @default.
• W1743837094 cites W2037754422 @default.
• W1743837094 cites W2047368836 @default.
• W1743837094 cites W2049966877 @default.
• W1743837094 cites W2060122517 @default.
• W1743837094 cites W2065893919 @default.
• W1743837094 cites W2067380629 @default.
• W1743837094 cites W2068557464 @default.
• W1743837094 cites W2070403335 @default.
• W1743837094 cites W2070490154 @default.
• W1743837094 cites W2074802067 @default.
• W1743837094 cites W2086546094 @default.
• W1743837094 cites W2098691225 @default.
• W1743837094 cites W2112892628 @default.
• W1743837094 cites W2114088919 @default.
• W1743837094 cites W2128610702 @default.
• W1743837094 cites W2131134103 @default.
• W1743837094 cites W2141711071 @default.
• W1743837094 cites W2144740152 @default.
• W1743837094 cites W2144877368 @default.
• W1743837094 cites W2153852650 @default.
• W1743837094 cites W2154172280 @default.
• W1743837094 cites W2154290883 @default.
• W1743837094 cites W2159873817 @default.
• W1743837094 cites W2170307472 @default.
• W1743837094 cites W2259938310 @default.
• W1743837094 cites W2333389992 @default.
• W1743837094 cites W2408521271 @default.
• W1743837094 cites W2139100531 @default.
• W1743837094 doi "https://doi.org/10.1002/mds.25536" @default.
• W1743837094 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23893446" @default.
• W1743837094 hasPublicationYear "2013" @default.
• W1743837094 type Work @default.
• W1743837094 sameAs 1743837094 @default.
• W1743837094 citedByCount "75" @default.
• W1743837094 countsByYear W17438370942013 @default.
• W1743837094 countsByYear W17438370942014 @default.
• W1743837094 countsByYear W17438370942015 @default.
• W1743837094 countsByYear W17438370942016 @default.
• W1743837094 countsByYear W17438370942017 @default.
• W1743837094 countsByYear W17438370942018 @default.
• W1743837094 countsByYear W17438370942019 @default.
• W1743837094 countsByYear W17438370942020 @default.
• W1743837094 countsByYear W17438370942021 @default.
• W1743837094 countsByYear W17438370942022 @default.
• W1743837094 countsByYear W17438370942023 @default.
• W1743837094 crossrefType "journal-article" @default.
• W1743837094 hasAuthorship W1743837094A5006957027 @default.
• W1743837094 hasAuthorship W1743837094A5024773860 @default.
• W1743837094 hasConcept C104317684 @default.
• W1743837094 hasConcept C126322002 @default.
• W1743837094 hasConcept C127716648 @default.
• W1743837094 hasConcept C169760540 @default.
• W1743837094 hasConcept C189978740 @default.
• W1743837094 hasConcept C200544954 @default.
• W1743837094 hasConcept C2778559928 @default.
• W1743837094 hasConcept C2779134260 @default.
• W1743837094 hasConcept C2779734285 @default.
• W1743837094 hasConcept C2780405171 @default.
• W1743837094 hasConcept C54355233 @default.
• W1743837094 hasConcept C71924100 @default.
• W1743837094 hasConcept C86803240 @default.
• W1743837094 hasConceptScore W1743837094C104317684 @default.
• W1743837094 hasConceptScore W1743837094C126322002 @default.
• W1743837094 hasConceptScore W1743837094C127716648 @default.
• W1743837094 hasConceptScore W1743837094C169760540 @default.
• W1743837094 hasConceptScore W1743837094C189978740 @default.

• next