FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2038446576> ?p ?o ?g. }

• W2038446576 endingPage "168" @default.
• W2038446576 startingPage "163" @default.
• W2038446576 abstract "Charcot-Marie-Tooth disease type 4D (CMT4D) is an autosomal recessive demyelinating polyneuropathy, associated with deafness exclusively found in Gypsies and resulting from a homozygous R148X mutation in the N-myc downstream-regulated gene 1 (NDRG1). We report the detailed phenotypic study of a family without Gypsy ancestry, who presented with severe demyelinating polyneuropathy, deafness, subcortical white matter abnormalities on brain magnetic resonance imaging studies, and the R148X mutation in NDRG1. For the first time, central nervous system white matter lesions are demonstrated in CMT4D. This report extends the clinical knowledge of CMT4D and indicates that the role of the R148X mutation in NDRG1 in the central nervous system should be further studied." @default.
• W2038446576 created "2016-06-24" @default.
• W2038446576 creator A5025192399 @default.
• W2038446576 creator A5039458198 @default.
• W2038446576 creator A5041504666 @default.
• W2038446576 creator A5041876349 @default.
• W2038446576 creator A5052661658 @default.
• W2038446576 creator A5055404418 @default.
• W2038446576 creator A5062724732 @default.
• W2038446576 date "2007-02-01" @default.
• W2038446576 modified "2023-10-15" @default.
• W2038446576 title "NDRG1-linked Charcot-Marie-Tooth disease (CMT4D) with central nervous system involvement" @default.
• W2038446576 cites W1976220554 @default.
• W2038446576 cites W2002173178 @default.
• W2038446576 cites W2014626499 @default.
• W2038446576 cites W2018816922 @default.
• W2038446576 cites W2030707283 @default.
• W2038446576 cites W2086012968 @default.
• W2038446576 cites W2096379390 @default.
• W2038446576 cites W2098221511 @default.
• W2038446576 cites W2104520484 @default.
• W2038446576 cites W2108247718 @default.
• W2038446576 cites W2116357638 @default.
• W2038446576 cites W2135948703 @default.
• W2038446576 cites W2148553396 @default.
• W2038446576 cites W2154285051 @default.
• W2038446576 doi "https://doi.org/10.1016/j.nmd.2006.10.002" @default.
• W2038446576 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17142040" @default.
• W2038446576 hasPublicationYear "2007" @default.
• W2038446576 type Work @default.
• W2038446576 sameAs 2038446576 @default.
• W2038446576 citedByCount "34" @default.
• W2038446576 countsByYear W20384465762012 @default.
• W2038446576 countsByYear W20384465762013 @default.
• W2038446576 countsByYear W20384465762014 @default.
• W2038446576 countsByYear W20384465762015 @default.
• W2038446576 countsByYear W20384465762016 @default.
• W2038446576 countsByYear W20384465762017 @default.
• W2038446576 countsByYear W20384465762018 @default.
• W2038446576 countsByYear W20384465762019 @default.
• W2038446576 countsByYear W20384465762020 @default.
• W2038446576 countsByYear W20384465762021 @default.
• W2038446576 countsByYear W20384465762022 @default.
• W2038446576 countsByYear W20384465762023 @default.
• W2038446576 crossrefType "journal-article" @default.
• W2038446576 hasAuthorship W2038446576A5025192399 @default.
• W2038446576 hasAuthorship W2038446576A5039458198 @default.
• W2038446576 hasAuthorship W2038446576A5041504666 @default.
• W2038446576 hasAuthorship W2038446576A5041876349 @default.
• W2038446576 hasAuthorship W2038446576A5052661658 @default.
• W2038446576 hasAuthorship W2038446576A5055404418 @default.
• W2038446576 hasAuthorship W2038446576A5062724732 @default.
• W2038446576 hasConcept C104317684 @default.
• W2038446576 hasConcept C118552586 @default.
• W2038446576 hasConcept C126322002 @default.
• W2038446576 hasConcept C126838900 @default.
• W2038446576 hasConcept C142724271 @default.
• W2038446576 hasConcept C143409427 @default.
• W2038446576 hasConcept C2775892965 @default.
• W2038446576 hasConcept C2778531937 @default.
• W2038446576 hasConcept C2779134260 @default.
• W2038446576 hasConcept C2781192897 @default.
• W2038446576 hasConcept C2910134782 @default.
• W2038446576 hasConcept C501734568 @default.
• W2038446576 hasConcept C529278444 @default.
• W2038446576 hasConcept C54355233 @default.
• W2038446576 hasConcept C545706735 @default.
• W2038446576 hasConcept C71924100 @default.
• W2038446576 hasConcept C86803240 @default.
• W2038446576 hasConceptScore W2038446576C104317684 @default.
• W2038446576 hasConceptScore W2038446576C118552586 @default.
• W2038446576 hasConceptScore W2038446576C126322002 @default.
• W2038446576 hasConceptScore W2038446576C126838900 @default.
• W2038446576 hasConceptScore W2038446576C142724271 @default.
• W2038446576 hasConceptScore W2038446576C143409427 @default.
• W2038446576 hasConceptScore W2038446576C2775892965 @default.
• W2038446576 hasConceptScore W2038446576C2778531937 @default.
• W2038446576 hasConceptScore W2038446576C2779134260 @default.
• W2038446576 hasConceptScore W2038446576C2781192897 @default.
• W2038446576 hasConceptScore W2038446576C2910134782 @default.
• W2038446576 hasConceptScore W2038446576C501734568 @default.
• W2038446576 hasConceptScore W2038446576C529278444 @default.
• W2038446576 hasConceptScore W2038446576C54355233 @default.
• W2038446576 hasConceptScore W2038446576C545706735 @default.
• W2038446576 hasConceptScore W2038446576C71924100 @default.
• W2038446576 hasConceptScore W2038446576C86803240 @default.
• W2038446576 hasIssue "2" @default.
• W2038446576 hasLocation W20384465761 @default.
• W2038446576 hasLocation W20384465762 @default.
• W2038446576 hasOpenAccess W2038446576 @default.
• W2038446576 hasPrimaryLocation W20384465761 @default.
• W2038446576 hasRelatedWork W2050453703 @default.
• W2038446576 hasRelatedWork W2071162500 @default.
• W2038446576 hasRelatedWork W2090593191 @default.
• W2038446576 hasRelatedWork W2404386303 @default.
• W2038446576 hasRelatedWork W2488058977 @default.
• W2038446576 hasRelatedWork W2582133563 @default.
• W2038446576 hasRelatedWork W2613625852 @default.

• next