X連鎖オリーブ橋小脳萎縮症
WordNet
- the means of connection between things linked in series (同)nexus
- a unit of length equal to 1/100 of a chain
- an interconnecting circuit between two or more locations for the purpose of transmitting and receiving data (同)data link
- a fastener that serves to join or connect; "the walls are held together with metal links placed in the wet mortar during construction" (同)linkup, tie, tie-in
- (computing) an instruction that connects one part of a program or an element on a list to another program or list
- a decrease in size of an organ caused by disease or disuse (同)wasting, wasting away
- undergo atrophy; "Muscles that are not used will atrophy"
- any weakening or degeneration (especially through lack of use) (同)withering
- the 24th letter of the Roman alphabet (同)x, ex
PrepTutorEJDIC
- (鎖の)『輪』,環 / 鎖のようにつながったソーセージの一節 / (…と)つなぐ物(人),(…との)きずな,つながり《+『with』(『to』)+『名』》 / 《複数形で》=cuff links / …‘を'『つなぎ合わせる』,連結する;(…と)…‘を'つなぐ《+『名』+『with』(『to』)+『名』》 / (…と)結合する,つながる《+[『up』(『together』)]『with』+『名』》
- たいまつ
- (栄養不良などによる)萎縮(いしゅく) / (一般的に)衰退,退化 / 萎縮する,衰退する / …'を'萎縮させる,衰退させる
- Christ / Christian
- x-axis
UpToDate Contents
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English Journal
- Adult-onset cerebello-brainstem dominant form of X-linked adrenoleukodystrophy presenting as multiple system atrophy: case report and literature review.
- Ogaki K1, Koga S1, Aoki N1, Lin W1, Suzuki K2,3, Ross OA1, Dickson DW1.
- Neuropathology : official journal of the Japanese Society of Neuropathology.Neuropathology.2016 Feb;36(1):64-76. doi: 10.1111/neup.12230. Epub 2015 Jul 31.
- X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder and is caused by ABCD1 mutations. A cerebello-brainstem dominant form that mainly involves the cerebellum and brainstem is summarized in a review of the literature, with autopsy-confirmed cases exceedingly rare. We report
- PMID 26227820
- Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.
- Burglen L1, Chantot-Bastaraud S, Garel C, Milh M, Touraine R, Zanni G, Petit F, Afenjar A, Goizet C, Barresi S, Coussement A, Ioos C, Lazaro L, Joriot S, Desguerre I, Lacombe D, des Portes V, Bertini E, Siffroi JP, de Villemeur TB, Rodriguez D.
- Orphanet journal of rare diseases.Orphanet J Rare Dis.2012 Mar 27;7:18. doi: 10.1186/1750-1172-7-18.
- BACKGROUND: Pontocerebellar hypoplasia (PCH) is a heterogeneous group of diseases characterized by lack of development and/or early neurodegeneration of cerebellum and brainstem. According to clinical features, seven subtypes of PCH have been described, PCH type 2 related to TSEN54 mutations being t
- PMID 22452838
- X-linked adrenoleukodystrophy with olivopontocerebellar atrophy.
- Vianello M1, Manara R, Betterle C, Tavolato B, Mariniello B, Giometto B.
- European journal of neurology.Eur J Neurol.2005 Nov;12(11):912-4.
- X-linked adrenoleukodystrophy (X-ALD) is a rare neurological disorder characterized by adrenal, gonadal and nervous system dysfunction. Patients usually develop spinal cord degeneration with involvement of the cerebral white matter. While a spinocerebellar variant has been described, the selective i
- PMID 16241983
Related Links
- Olivopontocerebellar atrophy, X-linked symptoms, causes, diagnosis, and treatment information for Olivopontocerebellar atrophy, X-linked (Cerebellar ataxia syndrome) with alternative diagnoses, full-text book chapters, misdiagnosis ...
- Olivopontocerebellar Atrophy. Olivopontocerebellar atrophy (OPCA) is a neurodegenerative syndrome characterized by prominent cerebellar and extrapyramidal signs, dysarthria, and dysphagia. ... A separate but related ...
★リンクテーブル★
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- 英
- X-linked olivopontocerebellar atrophy
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- 関
- associate、association、attach、bearing、bind、catenate、catenation、concatenation、connect、connection、correlate、correlation、implicate、implication、join、juncture、ligate、ligation、linkage、linked、pertinent、reference、relate、relation、relationship、relative、relevance、relevant
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- 関
- catenation、link、linkage
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キサントシン, xanthosine
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オリーブ橋小脳萎縮症