Matches in SemOpenAlex for { <https://semopenalex.org/work/W2355996882> ?p ?o ?g. }
Showing items 1 to 55 of
55
with 100 items per page.
- W2355996882 abstract "Objective To investigate PARK2 gene mutations in 42 patients with sporadic early-onset Parkinson′s disease(EOPD) and to explore their clinical characteristics.Methods A total of 42 sporadic EOPD patients were screened for mutations in PARK2 gene by using SYBR GreenI real-time PCR and DNA direct sequencing methods.Results 5 patients carried PARK2 gene mutations in the 42 sporadic EOPD,including 1 heterozygous deletions mutation,1 homozygous duplication mutation,1compound heterozygous point mutation and 2 identical heterozygous small sequence deletion mutations.Two of the mutations(c.850GC and c.968-973delGTGTCC) were reported previously.The c.925GT was a novel mutation.The patients with PARK2 mutations showed an earlier onset age than those without PARK2 mutations.But they showed no significant difference in the score of UPDRS(Unified Parkinson′s Disease Rating Scale)3.0 and Hoehr-Yahr.Conclusion The frequency of mutations in PARK2 gene is 11.9% in sporadic EOPD.Point mutation is the main type of mutations in sporadic EOPD.There are no significant differences in clinical features and disease severiies between patients with or without PARK2 mutations.However,patients who carry PARK2 mutations show a significantly earlier onset age,longer disease duration and slower progression than those without PARK2 mutations." @default.
- W2355996882 created "2016-06-24" @default.
- W2355996882 creator A5081262873 @default.
- W2355996882 date "2012-01-01" @default.
- W2355996882 modified "2023-09-23" @default.
- W2355996882 title "Mutation of PARK2 gene in sporadic early-onset Parkinson′s disease and its clinical characteristics" @default.
- W2355996882 hasPublicationYear "2012" @default.
- W2355996882 type Work @default.
- W2355996882 sameAs 2355996882 @default.
- W2355996882 citedByCount "0" @default.
- W2355996882 crossrefType "journal-article" @default.
- W2355996882 hasAuthorship W2355996882A5081262873 @default.
- W2355996882 hasConcept C104317684 @default.
- W2355996882 hasConcept C176944494 @default.
- W2355996882 hasConcept C2994225774 @default.
- W2355996882 hasConcept C501734568 @default.
- W2355996882 hasConcept C54355233 @default.
- W2355996882 hasConcept C71924100 @default.
- W2355996882 hasConcept C7602840 @default.
- W2355996882 hasConcept C86803240 @default.
- W2355996882 hasConceptScore W2355996882C104317684 @default.
- W2355996882 hasConceptScore W2355996882C176944494 @default.
- W2355996882 hasConceptScore W2355996882C2994225774 @default.
- W2355996882 hasConceptScore W2355996882C501734568 @default.
- W2355996882 hasConceptScore W2355996882C54355233 @default.
- W2355996882 hasConceptScore W2355996882C71924100 @default.
- W2355996882 hasConceptScore W2355996882C7602840 @default.
- W2355996882 hasConceptScore W2355996882C86803240 @default.
- W2355996882 hasLocation W23559968821 @default.
- W2355996882 hasOpenAccess W2355996882 @default.
- W2355996882 hasPrimaryLocation W23559968821 @default.
- W2355996882 hasRelatedWork W1993976442 @default.
- W2355996882 hasRelatedWork W2008242624 @default.
- W2355996882 hasRelatedWork W2023052208 @default.
- W2355996882 hasRelatedWork W2023886834 @default.
- W2355996882 hasRelatedWork W2033027442 @default.
- W2355996882 hasRelatedWork W2042317317 @default.
- W2355996882 hasRelatedWork W2068112998 @default.
- W2355996882 hasRelatedWork W2088492156 @default.
- W2355996882 hasRelatedWork W2107977469 @default.
- W2355996882 hasRelatedWork W2145316942 @default.
- W2355996882 hasRelatedWork W2148126791 @default.
- W2355996882 hasRelatedWork W2357377980 @default.
- W2355996882 hasRelatedWork W2362680240 @default.
- W2355996882 hasRelatedWork W2373352705 @default.
- W2355996882 hasRelatedWork W2384805122 @default.
- W2355996882 hasRelatedWork W2396938535 @default.
- W2355996882 hasRelatedWork W2541826406 @default.
- W2355996882 hasRelatedWork W2755625168 @default.
- W2355996882 hasRelatedWork W2884455495 @default.
- W2355996882 hasRelatedWork W2965841507 @default.
- W2355996882 isParatext "false" @default.
- W2355996882 isRetracted "false" @default.
- W2355996882 magId "2355996882" @default.
- W2355996882 workType "article" @default.