Matches in SemOpenAlex for { <https://semopenalex.org/work/W4376104477> ?p ?o ?g. }
Showing items 1 to 55 of
55
with 100 items per page.
- W4376104477 abstract "Charcot–Marie-Tooth (CMT) disease is the commonest form of hereditary sensorimotor neuropathy and presents with a vast plethora of phenotypes and genetic mutations. CMT1C is a rarer variant presenting with lower limb predominant sensorimotor involvement, associated with LITAF/SIMPLE gene mutation. We describe a case of an 18-year-old male with progressive asymmetrical upper limb weakness and atrophy with an extensive epidural arachnoid cyst in cervicothoracic spine. Nerve conduction study and genetic analysis aided the diagnosis of CMIT1C. This is the first case reported with the coexistence of the two pathologies that may turn out to be a phenotype of the same disease spectrum in future research." @default.
- W4376104477 created "2023-05-12" @default.
- W4376104477 creator A5031147679 @default.
- W4376104477 date "2023-05-09" @default.
- W4376104477 modified "2023-10-17" @default.
- W4376104477 title "An exceptional presentation of Charcot–Marie‐tooth 1C disease: Case report of a diagnostic dilemma" @default.
- W4376104477 cites W2017000783 @default.
- W4376104477 cites W2046745652 @default.
- W4376104477 cites W2082660003 @default.
- W4376104477 cites W2586836740 @default.
- W4376104477 cites W3034826588 @default.
- W4376104477 doi "https://doi.org/10.1111/ncn3.12723" @default.
- W4376104477 hasPublicationYear "2023" @default.
- W4376104477 type Work @default.
- W4376104477 citedByCount "0" @default.
- W4376104477 crossrefType "journal-article" @default.
- W4376104477 hasAuthorship W4376104477A5031147679 @default.
- W4376104477 hasConcept C105702510 @default.
- W4376104477 hasConcept C141071460 @default.
- W4376104477 hasConcept C142724271 @default.
- W4376104477 hasConcept C2776728740 @default.
- W4376104477 hasConcept C2777601897 @default.
- W4376104477 hasConcept C2778558090 @default.
- W4376104477 hasConcept C2779134260 @default.
- W4376104477 hasConcept C2780247198 @default.
- W4376104477 hasConcept C2780596555 @default.
- W4376104477 hasConcept C2910134782 @default.
- W4376104477 hasConcept C71924100 @default.
- W4376104477 hasConceptScore W4376104477C105702510 @default.
- W4376104477 hasConceptScore W4376104477C141071460 @default.
- W4376104477 hasConceptScore W4376104477C142724271 @default.
- W4376104477 hasConceptScore W4376104477C2776728740 @default.
- W4376104477 hasConceptScore W4376104477C2777601897 @default.
- W4376104477 hasConceptScore W4376104477C2778558090 @default.
- W4376104477 hasConceptScore W4376104477C2779134260 @default.
- W4376104477 hasConceptScore W4376104477C2780247198 @default.
- W4376104477 hasConceptScore W4376104477C2780596555 @default.
- W4376104477 hasConceptScore W4376104477C2910134782 @default.
- W4376104477 hasConceptScore W4376104477C71924100 @default.
- W4376104477 hasLocation W43761044771 @default.
- W4376104477 hasOpenAccess W4376104477 @default.
- W4376104477 hasPrimaryLocation W43761044771 @default.
- W4376104477 hasRelatedWork W2008162546 @default.
- W4376104477 hasRelatedWork W2029006601 @default.
- W4376104477 hasRelatedWork W2047348907 @default.
- W4376104477 hasRelatedWork W2329645568 @default.
- W4376104477 hasRelatedWork W2529312834 @default.
- W4376104477 hasRelatedWork W2996632819 @default.
- W4376104477 hasRelatedWork W3012360095 @default.
- W4376104477 hasRelatedWork W3023198347 @default.
- W4376104477 hasRelatedWork W3083452772 @default.
- W4376104477 hasRelatedWork W4233228800 @default.
- W4376104477 isParatext "false" @default.
- W4376104477 isRetracted "false" @default.
- W4376104477 workType "article" @default.