FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1993462197> ?p ?o ?g. }

• W1993462197 endingPage "1414" @default.
• W1993462197 startingPage "1408" @default.
• W1993462197 abstract "To report the clinical findings and the genetic linkage mapping of an autosomal recessive cerebellar ataxia associated to peripheral neuropathy, showing an early onset cerebellar ataxia with retained tendon reflexes (EOCA) phenotype.EOCA is a clinical syndrome delimited by Harding distinguished from Friedreich's ataxia (FA) mainly by the preservation of tendon reflexes. Molecular genetic study of patients with EOCA has demonstrated genetic heterogeneity. A form of autosomal recessive spastic ataxia has been described in Charlevoix Saguenay area in Quebec (ARSACS); the gene responsible has been mapped to chromosome 13q.Genetic linkage analysis was performed on 18 members of a large family including 8 of 9 members with EOCA. After exclusion of FA and ataxia with vitamin E deficiency loci as well as loci of autosomal dominant cerebellar ataxias, we performed a linkage analysis to markers of 13q11-12 region.The 9 affected members of this family showed stereotyped clinical features with cerebellar ataxia, pyramidal syndrome, and a variable degree of axonal peripheral neuropathy. Linkage was detected between the disease locus and the microsatellite marker D13S232. Surrounding markers to D13S232 confirmed the linkage and showed the homozygosity of the affected members.The family reported here showed the same locus as autosomal recessive spastic ataxia Charlevoix Saguenay disease." @default.
• W1993462197 created "2016-06-24" @default.
• W1993462197 creator A5002314347 @default.
• W1993462197 creator A5003495856 @default.
• W1993462197 creator A5007032386 @default.
• W1993462197 creator A5020257338 @default.
• W1993462197 creator A5059717695 @default.
• W1993462197 creator A5067824103 @default.
• W1993462197 creator A5069738625 @default.
• W1993462197 creator A5078547890 @default.
• W1993462197 date "2000-04-11" @default.
• W1993462197 modified "2023-09-27" @default.
• W1993462197 title "Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family" @default.
• W1993462197 cites W100779892 @default.
• W1993462197 cites W11890782 @default.
• W1993462197 cites W120968873 @default.
• W1993462197 cites W1505199084 @default.
• W1993462197 cites W1511537048 @default.
• W1993462197 cites W1530601467 @default.
• W1993462197 cites W1534899265 @default.
• W1993462197 cites W1549470101 @default.
• W1993462197 cites W1587714652 @default.
• W1993462197 cites W1968570539 @default.
• W1993462197 cites W1968806655 @default.
• W1993462197 cites W1972388594 @default.
• W1993462197 cites W1976131446 @default.
• W1993462197 cites W2006430824 @default.
• W1993462197 cites W2008706402 @default.
• W1993462197 cites W2042958854 @default.
• W1993462197 cites W2049110179 @default.
• W1993462197 cites W2050244960 @default.
• W1993462197 cites W2095990280 @default.
• W1993462197 cites W2120688465 @default.
• W1993462197 cites W2158155007 @default.
• W1993462197 cites W2411813914 @default.
• W1993462197 cites W2434936897 @default.
• W1993462197 doi "https://doi.org/10.1212/wnl.54.7.1408" @default.
• W1993462197 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10751248" @default.
• W1993462197 hasPublicationYear "2000" @default.
• W1993462197 type Work @default.
• W1993462197 sameAs 1993462197 @default.
• W1993462197 citedByCount "77" @default.
• W1993462197 countsByYear W19934621972012 @default.
• W1993462197 countsByYear W19934621972013 @default.
• W1993462197 countsByYear W19934621972015 @default.
• W1993462197 countsByYear W19934621972016 @default.
• W1993462197 countsByYear W19934621972017 @default.
• W1993462197 countsByYear W19934621972018 @default.
• W1993462197 countsByYear W19934621972019 @default.
• W1993462197 countsByYear W19934621972020 @default.
• W1993462197 countsByYear W19934621972021 @default.
• W1993462197 countsByYear W19934621972023 @default.
• W1993462197 crossrefType "journal-article" @default.
• W1993462197 hasAuthorship W1993462197A5002314347 @default.
• W1993462197 hasAuthorship W1993462197A5003495856 @default.
• W1993462197 hasAuthorship W1993462197A5007032386 @default.
• W1993462197 hasAuthorship W1993462197A5020257338 @default.
• W1993462197 hasAuthorship W1993462197A5059717695 @default.
• W1993462197 hasAuthorship W1993462197A5067824103 @default.
• W1993462197 hasAuthorship W1993462197A5069738625 @default.
• W1993462197 hasAuthorship W1993462197A5078547890 @default.
• W1993462197 hasConcept C104317684 @default.
• W1993462197 hasConcept C134018914 @default.
• W1993462197 hasConcept C142870003 @default.
• W1993462197 hasConcept C169760540 @default.
• W1993462197 hasConcept C2779901536 @default.
• W1993462197 hasConcept C2780148635 @default.
• W1993462197 hasConcept C2780906641 @default.
• W1993462197 hasConcept C54355233 @default.
• W1993462197 hasConcept C555293320 @default.
• W1993462197 hasConcept C84597430 @default.
• W1993462197 hasConcept C86803240 @default.
• W1993462197 hasConceptScore W1993462197C104317684 @default.
• W1993462197 hasConceptScore W1993462197C134018914 @default.
• W1993462197 hasConceptScore W1993462197C142870003 @default.
• W1993462197 hasConceptScore W1993462197C169760540 @default.
• W1993462197 hasConceptScore W1993462197C2779901536 @default.
• W1993462197 hasConceptScore W1993462197C2780148635 @default.
• W1993462197 hasConceptScore W1993462197C2780906641 @default.
• W1993462197 hasConceptScore W1993462197C54355233 @default.
• W1993462197 hasConceptScore W1993462197C555293320 @default.
• W1993462197 hasConceptScore W1993462197C84597430 @default.
• W1993462197 hasConceptScore W1993462197C86803240 @default.
• W1993462197 hasIssue "7" @default.
• W1993462197 hasLocation W19934621971 @default.
• W1993462197 hasLocation W19934621972 @default.
• W1993462197 hasOpenAccess W1993462197 @default.
• W1993462197 hasPrimaryLocation W19934621971 @default.
• W1993462197 hasRelatedWork W190833275 @default.
• W1993462197 hasRelatedWork W1968806655 @default.
• W1993462197 hasRelatedWork W1971259313 @default.
• W1993462197 hasRelatedWork W1993635989 @default.
• W1993462197 hasRelatedWork W2021018204 @default.
• W1993462197 hasRelatedWork W2057739827 @default.
• W1993462197 hasRelatedWork W2067050054 @default.
• W1993462197 hasRelatedWork W2116758780 @default.
• W1993462197 hasRelatedWork W2147254039 @default.
• W1993462197 hasRelatedWork W2170547714 @default.

• next