Matches in SemOpenAlex for { <https://semopenalex.org/work/W563248569> ?p ?o ?g. }
Showing items 1 to 91 of
91
with 100 items per page.
- W563248569 endingPage "197" @default.
- W563248569 startingPage "195" @default.
- W563248569 abstract "Kennedy’s disease is an adult-onset, X-linked recessive trinucleotide, polyglutamine disorder, caused by expansion of a polymorphic CAG tandem-repeat in exon 1 of the androgen-receptor (AR) gene on chromosome Xq11-12. We report a case of 60 year old non-diabetic, normotensive, non-smoker, non-alcoholic male presenting with gradual onset and progressive difficulty in swallowing, nasal intonation of speech, generalized wasting and weakness with cramps and fasciculation without any sensory symptoms for around one year. Examination revealed gross emaciation, bilateral gynaecomastia, nasal speech with absent gag reflex, wasted and fasciculating tongue, wasted limb muscles with widespread fasciculation, bilateral postural tremor without any cognitive and sensory impairment. Investigation revealed elevated serum CPK. Electro-diagnostic (EDX) features are consistent with a slowly progressive and very chronic degeneration of the anterior horn cells and dorsal root ganglia (absent SNAP). MRI of the brain and cervical spine revealed no abnormality. Ultimately the genetic analysis confirmed the case as Kennedy’s disease." @default.
- W563248569 created "2016-06-24" @default.
- W563248569 creator A5035319332 @default.
- W563248569 creator A5039080177 @default.
- W563248569 creator A5043712681 @default.
- W563248569 creator A5051832240 @default.
- W563248569 creator A5085207572 @default.
- W563248569 creator A5091874883 @default.
- W563248569 date "2015-06-06" @default.
- W563248569 modified "2023-09-23" @default.
- W563248569 title "Kennedy's Disease, a Mimic of Amyotrophic Lateral Sclerosis: A Case Report" @default.
- W563248569 cites W1553826256 @default.
- W563248569 cites W2049012951 @default.
- W563248569 cites W2054910143 @default.
- W563248569 cites W2062394428 @default.
- W563248569 cites W2069153889 @default.
- W563248569 cites W2120861526 @default.
- W563248569 cites W2352520852 @default.
- W563248569 doi "https://doi.org/10.12691/ajmcr-3-7-3" @default.
- W563248569 hasPublicationYear "2015" @default.
- W563248569 type Work @default.
- W563248569 sameAs 563248569 @default.
- W563248569 citedByCount "0" @default.
- W563248569 crossrefType "journal-article" @default.
- W563248569 hasAuthorship W563248569A5035319332 @default.
- W563248569 hasAuthorship W563248569A5039080177 @default.
- W563248569 hasAuthorship W563248569A5043712681 @default.
- W563248569 hasAuthorship W563248569A5051832240 @default.
- W563248569 hasAuthorship W563248569A5085207572 @default.
- W563248569 hasAuthorship W563248569A5091874883 @default.
- W563248569 hasConcept C104317684 @default.
- W563248569 hasConcept C105702510 @default.
- W563248569 hasConcept C112497637 @default.
- W563248569 hasConcept C118552586 @default.
- W563248569 hasConcept C141071460 @default.
- W563248569 hasConcept C142724271 @default.
- W563248569 hasConcept C166252455 @default.
- W563248569 hasConcept C180754005 @default.
- W563248569 hasConcept C185592680 @default.
- W563248569 hasConcept C2778970341 @default.
- W563248569 hasConcept C2779134260 @default.
- W563248569 hasConcept C2780596555 @default.
- W563248569 hasConcept C50965678 @default.
- W563248569 hasConcept C55493867 @default.
- W563248569 hasConcept C71924100 @default.
- W563248569 hasConceptScore W563248569C104317684 @default.
- W563248569 hasConceptScore W563248569C105702510 @default.
- W563248569 hasConceptScore W563248569C112497637 @default.
- W563248569 hasConceptScore W563248569C118552586 @default.
- W563248569 hasConceptScore W563248569C141071460 @default.
- W563248569 hasConceptScore W563248569C142724271 @default.
- W563248569 hasConceptScore W563248569C166252455 @default.
- W563248569 hasConceptScore W563248569C180754005 @default.
- W563248569 hasConceptScore W563248569C185592680 @default.
- W563248569 hasConceptScore W563248569C2778970341 @default.
- W563248569 hasConceptScore W563248569C2779134260 @default.
- W563248569 hasConceptScore W563248569C2780596555 @default.
- W563248569 hasConceptScore W563248569C50965678 @default.
- W563248569 hasConceptScore W563248569C55493867 @default.
- W563248569 hasConceptScore W563248569C71924100 @default.
- W563248569 hasIssue "7" @default.
- W563248569 hasLocation W5632485691 @default.
- W563248569 hasOpenAccess W563248569 @default.
- W563248569 hasPrimaryLocation W5632485691 @default.
- W563248569 hasRelatedWork W1553520962 @default.
- W563248569 hasRelatedWork W1636247972 @default.
- W563248569 hasRelatedWork W1983865619 @default.
- W563248569 hasRelatedWork W2005176076 @default.
- W563248569 hasRelatedWork W2038135896 @default.
- W563248569 hasRelatedWork W2144187312 @default.
- W563248569 hasRelatedWork W2173772817 @default.
- W563248569 hasRelatedWork W2318622322 @default.
- W563248569 hasRelatedWork W2336483889 @default.
- W563248569 hasRelatedWork W2426561044 @default.
- W563248569 hasRelatedWork W2583618851 @default.
- W563248569 hasRelatedWork W2913625926 @default.
- W563248569 hasRelatedWork W2922421707 @default.
- W563248569 hasRelatedWork W2982055287 @default.
- W563248569 hasRelatedWork W3020244126 @default.
- W563248569 hasRelatedWork W324469840 @default.
- W563248569 hasRelatedWork W824133634 @default.
- W563248569 hasRelatedWork W2126949564 @default.
- W563248569 hasRelatedWork W2186923711 @default.
- W563248569 hasRelatedWork W2461404815 @default.
- W563248569 hasVolume "3" @default.
- W563248569 isParatext "false" @default.
- W563248569 isRetracted "false" @default.
- W563248569 magId "563248569" @default.
- W563248569 workType "article" @default.