Matches in SemOpenAlex for { <https://semopenalex.org/work/W2032175300> ?p ?o ?g. }
Showing items 1 to 98 of
98
with 100 items per page.
- W2032175300 endingPage "326" @default.
- W2032175300 startingPage "321" @default.
- W2032175300 abstract "The pathological changes of spinocerebellar ataxias (SCAs), mainly include the degeneration of the cerebellum, spinal cord and brainstem. To investigate the genotype of a three-generation Chinese Han pedigree with an autosomal dominant SCA for clinical diagnosis and genetic counseling, direct mutation test and linkage analysis were performed. SCA1-8, SCA10-14, SCA17, SCA27 and dentatorubral-pallidoluysian atrophy (DRPLA) were excluded by mutation analysis while SCA15/16/29, SCA18, SCA19/22, SCA20, SCA21, SCA23, SCA25, SCA26, SCA28 and SCA30 were excluded by linkage analysis. Therefore, we excluded all of the previously identified SCA-associated genes and loci. Interestingly, one patient (III-13) had a novel mutation of the pleckstrin homology domain containing, family G (with RhoGef domain) member 4 gene (PLEKHG4), and another patient (II-7) had a novel mutation of the beta-III spectrin gene (SPTBN2) (Genbank accession numbers FJ905766 and FJ811850, respectively). However, mutations of the PLEKHG4 gene and the SPTBN2 gene are not the causes of SCAs in this family. We conclude that this autosomal dominant cerebellar ataxia family is likely a new genotype of SCAs." @default.
- W2032175300 created "2016-06-24" @default.
- W2032175300 creator A5011540763 @default.
- W2032175300 creator A5035158354 @default.
- W2032175300 creator A5042901476 @default.
- W2032175300 creator A5043409894 @default.
- W2032175300 creator A5062852679 @default.
- W2032175300 date "2010-08-01" @default.
- W2032175300 modified "2023-10-12" @default.
- W2032175300 title "Molecular genetic analysis of a new form of spinocerebellar ataxia in a Chinese Han family" @default.
- W2032175300 cites W1513749224 @default.
- W2032175300 cites W184133949 @default.
- W2032175300 cites W185972693 @default.
- W2032175300 cites W1877667838 @default.
- W2032175300 cites W1965357741 @default.
- W2032175300 cites W1967093614 @default.
- W2032175300 cites W1967286323 @default.
- W2032175300 cites W1971047357 @default.
- W2032175300 cites W2000785394 @default.
- W2032175300 cites W2006430824 @default.
- W2032175300 cites W2012481532 @default.
- W2032175300 cites W2018977285 @default.
- W2032175300 cites W2048555293 @default.
- W2032175300 cites W2052883021 @default.
- W2032175300 cites W2063685191 @default.
- W2032175300 cites W2064551580 @default.
- W2032175300 cites W2067771502 @default.
- W2032175300 cites W2068417942 @default.
- W2032175300 cites W2073012734 @default.
- W2032175300 cites W2074796477 @default.
- W2032175300 cites W2108369978 @default.
- W2032175300 cites W2113269783 @default.
- W2032175300 cites W2120600363 @default.
- W2032175300 cites W2120761702 @default.
- W2032175300 cites W2122524481 @default.
- W2032175300 cites W2129286776 @default.
- W2032175300 cites W2134401438 @default.
- W2032175300 cites W2134560036 @default.
- W2032175300 cites W2139255672 @default.
- W2032175300 cites W2141821413 @default.
- W2032175300 cites W2146686165 @default.
- W2032175300 cites W2169482727 @default.
- W2032175300 cites W2255469197 @default.
- W2032175300 doi "https://doi.org/10.1016/j.neulet.2010.05.089" @default.
- W2032175300 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20641168" @default.
- W2032175300 hasPublicationYear "2010" @default.
- W2032175300 type Work @default.
- W2032175300 sameAs 2032175300 @default.
- W2032175300 citedByCount "4" @default.
- W2032175300 countsByYear W20321753002015 @default.
- W2032175300 countsByYear W20321753002017 @default.
- W2032175300 countsByYear W20321753002020 @default.
- W2032175300 crossrefType "journal-article" @default.
- W2032175300 hasAuthorship W2032175300A5011540763 @default.
- W2032175300 hasAuthorship W2032175300A5035158354 @default.
- W2032175300 hasAuthorship W2032175300A5042901476 @default.
- W2032175300 hasAuthorship W2032175300A5043409894 @default.
- W2032175300 hasAuthorship W2032175300A5062852679 @default.
- W2032175300 hasConcept C104317684 @default.
- W2032175300 hasConcept C142870003 @default.
- W2032175300 hasConcept C169760540 @default.
- W2032175300 hasConcept C2779500118 @default.
- W2032175300 hasConcept C2780148635 @default.
- W2032175300 hasConcept C2780906641 @default.
- W2032175300 hasConcept C501734568 @default.
- W2032175300 hasConcept C54355233 @default.
- W2032175300 hasConcept C86803240 @default.
- W2032175300 hasConceptScore W2032175300C104317684 @default.
- W2032175300 hasConceptScore W2032175300C142870003 @default.
- W2032175300 hasConceptScore W2032175300C169760540 @default.
- W2032175300 hasConceptScore W2032175300C2779500118 @default.
- W2032175300 hasConceptScore W2032175300C2780148635 @default.
- W2032175300 hasConceptScore W2032175300C2780906641 @default.
- W2032175300 hasConceptScore W2032175300C501734568 @default.
- W2032175300 hasConceptScore W2032175300C54355233 @default.
- W2032175300 hasConceptScore W2032175300C86803240 @default.
- W2032175300 hasIssue "3" @default.
- W2032175300 hasLocation W20321753001 @default.
- W2032175300 hasLocation W20321753002 @default.
- W2032175300 hasOpenAccess W2032175300 @default.
- W2032175300 hasPrimaryLocation W20321753001 @default.
- W2032175300 hasRelatedWork W1973269908 @default.
- W2032175300 hasRelatedWork W1993635989 @default.
- W2032175300 hasRelatedWork W2028146863 @default.
- W2032175300 hasRelatedWork W2030341952 @default.
- W2032175300 hasRelatedWork W2042083515 @default.
- W2032175300 hasRelatedWork W2067050054 @default.
- W2032175300 hasRelatedWork W2076171276 @default.
- W2032175300 hasRelatedWork W2103551016 @default.
- W2032175300 hasRelatedWork W2146686165 @default.
- W2032175300 hasRelatedWork W2166753270 @default.
- W2032175300 hasVolume "479" @default.
- W2032175300 isParatext "false" @default.
- W2032175300 isRetracted "false" @default.
- W2032175300 magId "2032175300" @default.
- W2032175300 workType "article" @default.