Matches in SemOpenAlex for { <https://semopenalex.org/work/W2766243718> ?p ?o ?g. }
Showing items 1 to 100 of
100
with 100 items per page.
- W2766243718 endingPage "690" @default.
- W2766243718 startingPage "685" @default.
- W2766243718 abstract "We report a 44 years old man with slowly progressive muscular atrophy of the extremities for over 30 years. He experienced difficulty in walking in his 10's and was diagnosed as hereditary spastic paraplegia (HSP) in his 20's. And then, muscle atrophy of the extremities slowly progressed especially in his distal muscles. Sensory axonal neuropathy was detected with sural nerve biopsy. His father and uncle have been diagnosed as HSP in their early days. His father noticed weakness of his leg in his 20's. He lost motor function of the leg in his 60's. In addition, marked disturbance of thermal sensation, vibration, and sense of position were found by physical examination. Our genetic study detected senataxin (SETX) gene mutation (c.8C>T,p.T3I) in the blood of those two patients, and they had been identified as family cases of amyotrophic lateral sclerosis (ALS) 4. As clinical symptoms of ALS4 would be similar to those of HSP at the onset, we suggest considering ALS4 in seeing patients with HSP without gene diagnosis." @default.
- W2766243718 created "2017-11-10" @default.
- W2766243718 creator A5002956107 @default.
- W2766243718 creator A5034741222 @default.
- W2766243718 creator A5047764782 @default.
- W2766243718 creator A5050570795 @default.
- W2766243718 creator A5053317374 @default.
- W2766243718 creator A5064695904 @default.
- W2766243718 creator A5081265661 @default.
- W2766243718 date "2017-01-01" @default.
- W2766243718 modified "2023-09-27" @default.
- W2766243718 title "A amyotrophic lateral sclerosis (ALS) 4 family misdiagnosed as hereditary spastic paraplegia―a case report―" @default.
- W2766243718 cites W1992002234 @default.
- W2766243718 cites W2059980965 @default.
- W2766243718 cites W2108270734 @default.
- W2766243718 cites W2131797859 @default.
- W2766243718 cites W2169128738 @default.
- W2766243718 doi "https://doi.org/10.5692/clinicalneurol.cn-000996" @default.
- W2766243718 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29070749" @default.
- W2766243718 hasPublicationYear "2017" @default.
- W2766243718 type Work @default.
- W2766243718 sameAs 2766243718 @default.
- W2766243718 citedByCount "5" @default.
- W2766243718 countsByYear W27662437182019 @default.
- W2766243718 countsByYear W27662437182020 @default.
- W2766243718 countsByYear W27662437182021 @default.
- W2766243718 countsByYear W27662437182022 @default.
- W2766243718 crossrefType "journal-article" @default.
- W2766243718 hasAuthorship W2766243718A5002956107 @default.
- W2766243718 hasAuthorship W2766243718A5034741222 @default.
- W2766243718 hasAuthorship W2766243718A5047764782 @default.
- W2766243718 hasAuthorship W2766243718A5050570795 @default.
- W2766243718 hasAuthorship W2766243718A5053317374 @default.
- W2766243718 hasAuthorship W2766243718A5064695904 @default.
- W2766243718 hasAuthorship W2766243718A5081265661 @default.
- W2766243718 hasBestOaLocation W27662437181 @default.
- W2766243718 hasConcept C104317684 @default.
- W2766243718 hasConcept C105702510 @default.
- W2766243718 hasConcept C118552586 @default.
- W2766243718 hasConcept C127716648 @default.
- W2766243718 hasConcept C142724271 @default.
- W2766243718 hasConcept C2775934546 @default.
- W2766243718 hasConcept C2776195251 @default.
- W2766243718 hasConcept C2776728740 @default.
- W2766243718 hasConcept C2777597760 @default.
- W2766243718 hasConcept C2779134260 @default.
- W2766243718 hasConcept C2779421357 @default.
- W2766243718 hasConcept C2779999465 @default.
- W2766243718 hasConcept C2780247198 @default.
- W2766243718 hasConcept C2780395223 @default.
- W2766243718 hasConcept C2780596555 @default.
- W2766243718 hasConcept C2780775167 @default.
- W2766243718 hasConcept C2781172350 @default.
- W2766243718 hasConcept C54355233 @default.
- W2766243718 hasConcept C71924100 @default.
- W2766243718 hasConcept C86803240 @default.
- W2766243718 hasConcept C99508421 @default.
- W2766243718 hasConceptScore W2766243718C104317684 @default.
- W2766243718 hasConceptScore W2766243718C105702510 @default.
- W2766243718 hasConceptScore W2766243718C118552586 @default.
- W2766243718 hasConceptScore W2766243718C127716648 @default.
- W2766243718 hasConceptScore W2766243718C142724271 @default.
- W2766243718 hasConceptScore W2766243718C2775934546 @default.
- W2766243718 hasConceptScore W2766243718C2776195251 @default.
- W2766243718 hasConceptScore W2766243718C2776728740 @default.
- W2766243718 hasConceptScore W2766243718C2777597760 @default.
- W2766243718 hasConceptScore W2766243718C2779134260 @default.
- W2766243718 hasConceptScore W2766243718C2779421357 @default.
- W2766243718 hasConceptScore W2766243718C2779999465 @default.
- W2766243718 hasConceptScore W2766243718C2780247198 @default.
- W2766243718 hasConceptScore W2766243718C2780395223 @default.
- W2766243718 hasConceptScore W2766243718C2780596555 @default.
- W2766243718 hasConceptScore W2766243718C2780775167 @default.
- W2766243718 hasConceptScore W2766243718C2781172350 @default.
- W2766243718 hasConceptScore W2766243718C54355233 @default.
- W2766243718 hasConceptScore W2766243718C71924100 @default.
- W2766243718 hasConceptScore W2766243718C86803240 @default.
- W2766243718 hasConceptScore W2766243718C99508421 @default.
- W2766243718 hasIssue "11" @default.
- W2766243718 hasLocation W27662437181 @default.
- W2766243718 hasLocation W27662437182 @default.
- W2766243718 hasOpenAccess W2766243718 @default.
- W2766243718 hasPrimaryLocation W27662437181 @default.
- W2766243718 hasRelatedWork W1575606950 @default.
- W2766243718 hasRelatedWork W159172716 @default.
- W2766243718 hasRelatedWork W2073701161 @default.
- W2766243718 hasRelatedWork W2169642827 @default.
- W2766243718 hasRelatedWork W2184894276 @default.
- W2766243718 hasRelatedWork W2571482156 @default.
- W2766243718 hasRelatedWork W2766243718 @default.
- W2766243718 hasRelatedWork W3114577764 @default.
- W2766243718 hasRelatedWork W3197155407 @default.
- W2766243718 hasRelatedWork W3207154810 @default.
- W2766243718 hasVolume "57" @default.
- W2766243718 isParatext "false" @default.
- W2766243718 isRetracted "false" @default.
- W2766243718 magId "2766243718" @default.
- W2766243718 workType "article" @default.