Matches in SemOpenAlex for { <https://semopenalex.org/work/W2408521271> ?p ?o ?g. }
- W2408521271 endingPage "85" @default.
- W2408521271 startingPage "35" @default.
- W2408521271 abstract "Dystonia has been defined as a syndrome of involuntary, sustained muscle contractions affecting one or more sites of the body, frequently causing twisting and repetitive movements or abnormal postures. Dystonia is also a clinical sign that can be the presenting or prominent manifestation of many neurodegenerative and neurometabolic disorders. Etiological categories include primary dystonia, secondary dystonia, heredodegenerative diseases with dystonia, and dystonia plus. Primary dystonia includes syndromes in which dystonia is the sole phenotypic manifestation with the exception that tremor can be present as well. Most primary dystonia begins in adults, and approximately 10% of probands report one or more affected family members. Many cases of childhood- and adolescent-onset dystonia are due to mutations in TOR1A and THAP1. Mutations in THAP1 and CIZ1 have been associated with sporadic and familial adult-onset dystonia. Although significant recent progress had been made in defining the genetic basis for most of the dystonia-plus and heredodegenerative diseases with dystonia, a major gap remains in understanding the genetic etiologies for most cases of adult-onset primary dystonia. Common themes in the cellular biology of dystonia include G1/S cell cycle control, monoaminergic neurotransmission, mitochondrial dysfunction, and the neuronal stress response." @default.
- W2408521271 created "2016-06-24" @default.
- W2408521271 creator A5087738105 @default.
- W2408521271 date "2012-01-01" @default.
- W2408521271 modified "2023-10-16" @default.
- W2408521271 title "The Genetics of Dystonias" @default.
- W2408521271 cites W1490093678 @default.
- W2408521271 cites W1505317673 @default.
- W2408521271 cites W1507128123 @default.
- W2408521271 cites W1657160385 @default.
- W2408521271 cites W1875835053 @default.
- W2408521271 cites W1917516358 @default.
- W2408521271 cites W1963556633 @default.
- W2408521271 cites W1965035726 @default.
- W2408521271 cites W1965182944 @default.
- W2408521271 cites W1969898729 @default.
- W2408521271 cites W1970270474 @default.
- W2408521271 cites W1972570937 @default.
- W2408521271 cites W1974225453 @default.
- W2408521271 cites W1975005663 @default.
- W2408521271 cites W1976363691 @default.
- W2408521271 cites W1977102939 @default.
- W2408521271 cites W1977147466 @default.
- W2408521271 cites W1980213732 @default.
- W2408521271 cites W1980462990 @default.
- W2408521271 cites W1980641489 @default.
- W2408521271 cites W1986468800 @default.
- W2408521271 cites W1991401124 @default.
- W2408521271 cites W1993034175 @default.
- W2408521271 cites W1995310431 @default.
- W2408521271 cites W1996980926 @default.
- W2408521271 cites W1997587640 @default.
- W2408521271 cites W1997720284 @default.
- W2408521271 cites W1998724633 @default.
- W2408521271 cites W2001324575 @default.
- W2408521271 cites W2002146343 @default.
- W2408521271 cites W2003436591 @default.
- W2408521271 cites W2003934444 @default.
- W2408521271 cites W2004961825 @default.
- W2408521271 cites W2004987745 @default.
- W2408521271 cites W2005216533 @default.
- W2408521271 cites W2006995793 @default.
- W2408521271 cites W2007000299 @default.
- W2408521271 cites W2008173871 @default.
- W2408521271 cites W2010676823 @default.
- W2408521271 cites W2010778537 @default.
- W2408521271 cites W2010958487 @default.
- W2408521271 cites W2012306672 @default.
- W2408521271 cites W2013385687 @default.
- W2408521271 cites W2013441760 @default.
- W2408521271 cites W2013998725 @default.
- W2408521271 cites W2014829380 @default.
- W2408521271 cites W2015748354 @default.
- W2408521271 cites W2016354287 @default.
- W2408521271 cites W2020631323 @default.
- W2408521271 cites W2022177992 @default.
- W2408521271 cites W2023691478 @default.
- W2408521271 cites W2025693497 @default.
- W2408521271 cites W2029637759 @default.
- W2408521271 cites W2034594100 @default.
- W2408521271 cites W2038730041 @default.
- W2408521271 cites W2038752660 @default.
- W2408521271 cites W2038837225 @default.
- W2408521271 cites W2039027561 @default.
- W2408521271 cites W2039071862 @default.
- W2408521271 cites W2040998974 @default.
- W2408521271 cites W2042259273 @default.
- W2408521271 cites W2042725982 @default.
- W2408521271 cites W2042813091 @default.
- W2408521271 cites W2045095333 @default.
- W2408521271 cites W2045671840 @default.
- W2408521271 cites W2049784793 @default.
- W2408521271 cites W2049979242 @default.
- W2408521271 cites W2050523116 @default.
- W2408521271 cites W2050729907 @default.
- W2408521271 cites W2052937897 @default.
- W2408521271 cites W2053299694 @default.
- W2408521271 cites W2055956984 @default.
- W2408521271 cites W2056964308 @default.
- W2408521271 cites W2058363047 @default.
- W2408521271 cites W2058552522 @default.
- W2408521271 cites W2062980996 @default.
- W2408521271 cites W2063262949 @default.
- W2408521271 cites W2064084395 @default.
- W2408521271 cites W2064802601 @default.
- W2408521271 cites W2065955009 @default.
- W2408521271 cites W2066216275 @default.
- W2408521271 cites W2066633780 @default.
- W2408521271 cites W2067455339 @default.
- W2408521271 cites W2067498074 @default.
- W2408521271 cites W2067558876 @default.
- W2408521271 cites W2068085961 @default.
- W2408521271 cites W2068600250 @default.
- W2408521271 cites W2068778836 @default.
- W2408521271 cites W2069422043 @default.
- W2408521271 cites W2069697322 @default.
- W2408521271 cites W2070269079 @default.
- W2408521271 cites W2070860461 @default.