WordNet

PrepTutorEJDIC

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

Four novel rare mutations of PLA2G6 in Chinese population with Parkinson's disease.

Gui YX, Xu ZP, Wen-Lv, Liu HM, Zhao JJ, Hu XY.SourceDepartment of Neurology, Sir Run Run Shaw Hospital, Affiliated with School of Medicine, Zhejiang University, 3 Qingchun East Road, Hangzhou, Zhejiang 310016, China.
Parkinsonism & related disorders.Parkinsonism Relat Disord.2013 Jan;19(1):21-6. doi: 10.1016/j.parkreldis.2012.07.016. Epub 2012 Nov 20.
BACKGROUND: Mutations in the phospholipase A2 Group 6 (PLA2G6) gene have been identified in autosomal recessive neurodegenerative diseases classified as infantile neuroaxonal dystrophy and neurodegeneration with brain iron accumulation. Recently, PLA2G6 was also reported as the causative gene for ea
PMID 23182313

Pedigree Analysis and Exclusion of Alpha-Tocopherol Transfer Protein (TTPA) as a Candidate Gene for Neuroaxonal Dystrophy in the American Quarter Horse.

Finno CJ, Famula T, Aleman M, Higgins RJ, Madigan JE, Bannasch DL.SourceDepartment of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, CA.
Journal of veterinary internal medicine / American College of Veterinary Internal Medicine.J Vet Intern Med.2012 Nov 27. doi: 10.1111/jvim.12015. [Epub ahead of print]
BACKGROUND: Equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (NAD/EDM) is a neurodegenerative disorder affecting young horses of various breeds that resembles ataxia with vitamin E deficiency in humans, an inherited disorder caused by mutations in the alpha-tocopherol transfer pr
PMID 23186252

14-3-3 Proteins, particularly of the epsilon isoform, are detectable in cerebrospinal fluids of cerebellar diseases in children.

Fujii K, Uchikawa H, Tanabe Y, Omata T, Nonaka I, Kohno Y.SourceDepartment of Pediatrics, Chiba University Graduate School of Medicine, Chiba, Japan. Electronic address: kfujii@faculty.chiba-u.jp.
Brain & development.Brain Dev.2012 Oct 15. pii: S0387-7604(12)00229-X. doi: 10.1016/j.braindev.2012.09.007. [Epub ahead of print]
Background: Detection of 14-3-3 proteins in cerebrospinal fluid (CSF) is a powerful tool for elucidating the mechanisms of neurological disorders. There have been useful studies on 14-3-3 CSF protein detection in Creutzfeldt-Jakob disease and other neurological disorders, but none on cerebellar dise
PMID 23078967

舟塚真,伊藤康,塩田睦記 [他],大澤眞木子
東京女子医科大学雑誌 83(E1), E69-E73, 2013-01-31
… 関連疾患は11例で、infantile neuroaxonal dystrophy 5例、fatty acid hydroxylase associated neurodegeneration(以下FAHN)疑い2例、その他4例であった。 …
NAID 110009559374