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在“Elsevier电子期刊”中，命中：42条，耗时：小于0.01 秒

1.Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis

作者：Alessandro Iodice^a ; ^{alle.iodice@gmail.com} ; Carlotta Spagnoli^a ; Grazia Gabriella Salerno^a ; Daniele Frattini^a ; Gianna Bertani^a ; Patrizia Bergonzini^c ; Francesco Pisani^b ; Carlo Fusco^a

关键词：Infantile neuroaxonal dystrophy ; PLAN ; PLA2G6 ; Atypical NAD ; Neurodegeneration with brain iron accumulation

刊名：Brain and Development

出版年：2017

2.Identification of a novel mutation in PLA2G6 gene in a Chinese pedigree with familial cortical myoclonic tremor with epilepsy

作者：Lehong Gao^a ; Liping Li^a ; Jing Ye^a ; Xilin Zhu^b ; Ning Shen^b ; Xiating Zhang^a ; Dequan Wang^a ; Yu Gao^a ; Hua Lin^a ; Yuping Wang^a ; ^{doctorwangyuping@163.com" class="auth_mail" title="E-mail the corresponding author} ; Ying Liu^b ; ^{liuyingpumc@163.com" class="auth_mail" title="E-mail the corresponding author}

关键词：Cortical myoclonic tremor with epilepsy ; PLA2G6 ; Whole-exome sequencing

刊名：Seizure

出版年：2016

3.A new missense mutation in PLA2G6 gene among a family with infantile neuroaxonal dystrophy INAD

作者：Ola Gebril^a ; ^{olahossny@hotmail.com} ; Steffen Uebe^b ; Miriam Reuter^b ; Johannes Schumacher^b ; Rami Abou Jamra^b ; André ; Reis^b

关键词：Axons ; Phospholipase ; Membrane phospholipids ; Cerebellum ; Cerebral cortex

刊名：Egyptian Pediatric Association Gazette

出版年：2016

4.Mutations de PLA2G6, une cause rare de syndrome parkinsonien Dopa sensible

作者：Thomas Wirth¹ ; ^{thomas.wirth@laposte.net" class="auth_mail" title="E-mail the corresponding author} ; Mathilde Renaud¹ ; Ouhaid Lagha Boukbiza¹ ; Gabrielle Rudolf¹ ; Jamel Chelly² ; Christine Tranchant¹ ; Mathieu Anheim¹

关键词：Gé ; né ; tique ; Dé ; mence ; Parkinson juvé ; nile

刊名：Revue Neurologique

出版年：2016

5.Novel compound heterozygous mutations of PLA2G6 in a Korean pedigree of young-onset Parkinson's disease: A study of whole genome sequencing

作者：Eu Gene Choi¹ ; Won-Chul Lee² ; Jong-Yeon Shin³ ; Jeong-Sun Seo⁴ ; Chong S. Lee¹

刊名：Parkinsonism & Related Disorders

出版年：2016

6.iPLA2β deficiency attenuates obesity and hepatic steatosis in ob/ob mice through hepatic fatty-acyl phospholipid remodeling

作者：Xiuling Deng^a ; ^b ; Jiliang Wang^a ; Li Jiao^a ; Tanyarath Utaipan^a ; Sabine Tuma-Kellner^a ; Gerd Schmitz^c ; Gerhard Liebisch^c ; Wolfgang Stremmel^a ; Walee Chamulitrat^a ; ^{Walee.Chamulitrat@med.uni-heidelberg.de" class="auth_mail" title="E-mail the corresponding author}

关键词：AA ; arachidonic acid ; Acox1 ; acyl-CoA oxidase ; ATGL ; adipocyte triglyceride lipase ; CCTα ; phosphate cytidylyltransferase 1 ; choline α ; CEPT ; choline/ethanolaminephosphotransferase 1 ; CE ; cholesterol esters ; CHOL ; cholesterol ; CM ; chylomicrons ; CPT1 ; carnitine palmitoyltransferase ; Crot ; carnitine octanoyltransferase ; CK ; choline kinase ; DGAT ; diacylglycerol acyltransferase ; DHA ; docosahexaenoic acid ; EPA ; eicosapentaenoic acid ; EK ; ethanolamine kinase ; HOMA-IR ; homeostasis model assessment-insul

刊名：Biochimica et Biophysica Acta (BBA)-Molecular and Cell Biology of Lipids

出版年：2016

7.PLA2G6-associated neurodegeneration (PLAN): Further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease

作者：M.A. Illingworth^a ; E. Meyer^b ; W.K. Chong^c ; A.Y. Manzur^d ; L.J. Carr^a ; R. Younis^e ; C. Hardy^e ; F. McDonald^e ; A.M. Childs^f ; B. Stewart^g ; D. Warren^h ; R. Kneenⁱ ; M.D. King^j ; S.J. Hayflick^k ; ^l ; ^m ; M.A. Kurian^a ; ^b ; ^{manju.kurian@ucl.ac.uk" class="auth_mail}

关键词：Neurodegeneration with brain iron accumulation ; NBIA ; PLA2G6 ; INAD ; PLAN

刊名：Molecular Genetics and Metabolism

出版年：June 2014

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

作者：Ya-Xing Gui^a ; ² ; Zhong-Ping Xu^b ; ¹ ; ² ; Wen-Lv^a ; Hong-mei Liu^b ; Jin-Jia Zhao^a ; Xing-Yue Hu^a ; ^{Huxingyue2003@163.com}

关键词：Parkinson's diseases ; PLA2G6 ; Mutations ; Phospholipase ; Chinese populations

刊名：Parkinsonism and Related Disorders

出版年：2013

9.P109 - 2442: Infantile neuroaxonal dystrophy: A new mutation

作者：Z.S. Karalok ; B.D. Taskin ; U. Aydogmus ; S. Ceylaner ; K. Karaer ; C. Yilmaz

刊名：European Journal of Paediatric Neurology

出版年：2015

10.Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations

作者：Coro Paisá ; n-Ruiz^a ; ¹ ; Abi Li^a ; ^b ; ¹ ; Susanne A. Schneider^c ; Janice L. Holton^a ; ^b ; Robert Johnson^e ; Desmond Kidd^f ; Jeremy Chataway^f ; Kailash P. Bhatia^c ; Andrew J. Lees^d ; John Hardy^a ; Tamas Revesz^a ; ^b ; ¹ ; ^{t.revesz@ion.ucl.ac.uk} ; Henry Houlden^a ; ¹

关键词：PLA2G6 ; PANK2 ; Lewy bodies ; tau ; parkinsonism

刊名：Neurobiology of Aging

出版年：2012

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