FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2154080630> ?p ?o ?g. }

• W2154080630 endingPage "76" @default.
• W2154080630 startingPage "71" @default.
• W2154080630 abstract "We report a new family with palatal myoclonus, pyramidal tract signs, cerebellar signs, marked atrophy of the medulla oblongata and spinal cord, and autosomal dominant inheritance. These findings were almost identical with those in patients previously reported to have histopathologically confirmed adult-onset Alexander disease. Recently, heterozygous point mutations in the coding region of glial fibrillary acidic protein (GFAP) in patients with an infantile form of Alexander disease have been reported. We found a new heterozygous amino acid substitution, Val87Gly in exon 1 of GFAP, in the affected individuals in this family but not in 100 spinocerebellar ataxia (SCA) patients and 100 controls. Therefore, this family might have new clinical entities related to adult-onset Alexander disease and GFAP mutation." @default.
• W2154080630 created "2016-06-24" @default.
• W2154080630 creator A5005455664 @default.
• W2154080630 creator A5036192371 @default.
• W2154080630 creator A5046049712 @default.
• W2154080630 creator A5049868072 @default.
• W2154080630 creator A5063853635 @default.
• W2154080630 creator A5068323449 @default.
• W2154080630 creator A5077751499 @default.
• W2154080630 date "2002-03-01" @default.
• W2154080630 modified "2023-09-26" @default.
• W2154080630 title "Autosomal dominant palatal myoclonus and spinal cord atrophy" @default.
• W2154080630 cites W1584602900 @default.
• W2154080630 cites W1822372593 @default.
• W2154080630 cites W1983275701 @default.
• W2154080630 cites W1990782922 @default.
• W2154080630 cites W1996124187 @default.
• W2154080630 cites W2016410251 @default.
• W2154080630 cites W2030482394 @default.
• W2154080630 cites W2052694792 @default.
• W2154080630 cites W2052883021 @default.
• W2154080630 cites W2058245283 @default.
• W2154080630 cites W2073012734 @default.
• W2154080630 cites W2074849727 @default.
• W2154080630 cites W2078402943 @default.
• W2154080630 cites W2079596497 @default.
• W2154080630 cites W2080186585 @default.
• W2154080630 cites W2089390647 @default.
• W2154080630 cites W2090358141 @default.
• W2154080630 cites W2155826648 @default.
• W2154080630 doi "https://doi.org/10.1016/s0022-510x(01)00687-6" @default.
• W2154080630 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11867077" @default.
• W2154080630 hasPublicationYear "2002" @default.
• W2154080630 type Work @default.
• W2154080630 sameAs 2154080630 @default.
• W2154080630 citedByCount "76" @default.
• W2154080630 countsByYear W21540806302012 @default.
• W2154080630 countsByYear W21540806302013 @default.
• W2154080630 countsByYear W21540806302014 @default.
• W2154080630 countsByYear W21540806302015 @default.
• W2154080630 countsByYear W21540806302016 @default.
• W2154080630 countsByYear W21540806302017 @default.
• W2154080630 countsByYear W21540806302018 @default.
• W2154080630 countsByYear W21540806302020 @default.
• W2154080630 countsByYear W21540806302021 @default.
• W2154080630 countsByYear W21540806302022 @default.
• W2154080630 countsByYear W21540806302023 @default.
• W2154080630 crossrefType "journal-article" @default.
• W2154080630 hasAuthorship W2154080630A5005455664 @default.
• W2154080630 hasAuthorship W2154080630A5036192371 @default.
• W2154080630 hasAuthorship W2154080630A5046049712 @default.
• W2154080630 hasAuthorship W2154080630A5049868072 @default.
• W2154080630 hasAuthorship W2154080630A5063853635 @default.
• W2154080630 hasAuthorship W2154080630A5068323449 @default.
• W2154080630 hasAuthorship W2154080630A5077751499 @default.
• W2154080630 hasConcept C105702510 @default.
• W2154080630 hasConcept C134018914 @default.
• W2154080630 hasConcept C142724271 @default.
• W2154080630 hasConcept C169760540 @default.
• W2154080630 hasConcept C2776538686 @default.
• W2154080630 hasConcept C2777427615 @default.
• W2154080630 hasConcept C2778110749 @default.
• W2154080630 hasConcept C2779134260 @default.
• W2154080630 hasConcept C2780775167 @default.
• W2154080630 hasConcept C2780906641 @default.
• W2154080630 hasConcept C2781172350 @default.
• W2154080630 hasConcept C42219234 @default.
• W2154080630 hasConcept C529278444 @default.
• W2154080630 hasConcept C71924100 @default.
• W2154080630 hasConcept C86803240 @default.
• W2154080630 hasConceptScore W2154080630C105702510 @default.
• W2154080630 hasConceptScore W2154080630C134018914 @default.
• W2154080630 hasConceptScore W2154080630C142724271 @default.
• W2154080630 hasConceptScore W2154080630C169760540 @default.
• W2154080630 hasConceptScore W2154080630C2776538686 @default.
• W2154080630 hasConceptScore W2154080630C2777427615 @default.
• W2154080630 hasConceptScore W2154080630C2778110749 @default.
• W2154080630 hasConceptScore W2154080630C2779134260 @default.
• W2154080630 hasConceptScore W2154080630C2780775167 @default.
• W2154080630 hasConceptScore W2154080630C2780906641 @default.
• W2154080630 hasConceptScore W2154080630C2781172350 @default.
• W2154080630 hasConceptScore W2154080630C42219234 @default.
• W2154080630 hasConceptScore W2154080630C529278444 @default.
• W2154080630 hasConceptScore W2154080630C71924100 @default.
• W2154080630 hasConceptScore W2154080630C86803240 @default.
• W2154080630 hasIssue "1" @default.
• W2154080630 hasLocation W21540806301 @default.
• W2154080630 hasLocation W21540806302 @default.
• W2154080630 hasOpenAccess W2154080630 @default.
• W2154080630 hasPrimaryLocation W21540806301 @default.
• W2154080630 hasRelatedWork W1968795921 @default.
• W2154080630 hasRelatedWork W1983550326 @default.
• W2154080630 hasRelatedWork W1991875076 @default.
• W2154080630 hasRelatedWork W2006208718 @default.
• W2154080630 hasRelatedWork W2023819398 @default.
• W2154080630 hasRelatedWork W2239058362 @default.
• W2154080630 hasRelatedWork W2317094860 @default.
• W2154080630 hasRelatedWork W2338068204 @default.

• next