搜索页_+mitochondrial+encephalomyophathy

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在“Elsevier电子期刊”中，命中：397条，耗时：0.0159929 秒

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1.Radboud Centre for Mitochondrial Medicine Pediatric MRI score

作者：Sheila Suet-Na Wong^a ; ^c ; Bozena Goraj^b ; ^e ; Cheuk-Wing Fung^a ; ^d ; Jeroen Vister^b ; Lonneke de Boer^a ; Saskia Koene^a ; ^{Saskia.Koene@Radboudumc.nl} ; Jan Smeitink^a

关键词：MD ; Mitochondrial Disorders ; MRI ; Magnetic Resonance Imaging ; MELAS ; Mitochondrial Encephalopathy with Lactic Acidosis and Stroke-like Episodes ; MNGIE ; Mitochondrial Neurogastrointestinal Encephalomyopathy ; FLAIR ; Fluid-attenuated Inversion Recovery ; DWI ; Diffusion Weighted Imaging ; IQRs ; Interquartile Ranges ; RCMM ; Radboud Centre for Mitochondrial Medicine ; RCMM-PMRIS ; Radboud Centre for Mitochondrial Medicine Pediatric MRI Score

刊名：Mitochondrion

出版年：2017

2.Cause of Death in Children With Mitochondrial Diseases

作者：Soyong Eom ; MD ; PhD^a ; Ha Neul Lee ; MD^b ; Sunho Lee ; MD^b ; Hoon-Chul Kang ; MD ; PhD^c ; Joon Soo Lee ; MD ; PhD^c ; Heung Dong Kim ; MD ; PhD^c ; Young-Mock Lee ; MD ; PhD^b ; ^{ymleemd@yuhs.ac}

关键词：mitochondrial disease ; pediatric ; children ; cause of death ; risk factor ; mortality

刊名：Pediatric Neurology

出版年：2017

3.Progesterone treatment modulates mRNA OF neurosteroidogenic enzymes in a murine model of multiple sclerosis

作者：Laura Garay^a ; ^b ; Paula Gonzalez Giqueaux^a ; Rachida Guennoun^c ; Michael Schumacher^c ; Maria Claudia Gonzalez Deniselle^a ; ^d ; Alejandro F. De Nicola^a ; ^b ; ^{alejandrodenicola@gmail.com}

关键词：CC1 ; anti-adenomatours polyposis coli clone CC1 ; CD11b ; cluster of differentiation molecule 11B ; CFA ; complete Freund adjuvant ; DHP ; dihydroprogesterone ; EAE ; experimental autoimmune encephalomyelitis ; Fis1 ; mitochondrial fission 1 ; GABA ; gamma-aminobutyric acid ; 3α-HSD ; 3 alpha- hydroxysteroid-dehydrogenase ; 3β-HSD ; 3 beta-hydroxysteroid-dehydrogenase ; PS ; lipopolysaccharide ; MBP ; myelin basic protein ; Mfn2 ; mitofusin 2 ; MOG ; myelin oligodendrocyte protein ; MS ; multiple sclerosis ; Nkx2.2 ; NK2 H

刊名：The Journal of Steroid Biochemistry and Molecular Biology

出版年：2017

4.Case report: 5 year follow-up of adult late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS)

作者：Kiri Sunde^a ; Patrick R. Blackburn^b ; Anvir Cheema^b ; Jennifer Gass^b ; Jessica Jackson^b ; Sarah Macklin^b ; Paldeep S. Atwal^b ; ^{Atwal.Paldeep@mayo.edu}

关键词：MELAS ; Mitochondrial encephalomyopathy with lactic acid and stroke-like episodes ; mtDNA ; Mitochondrial DNA

刊名：Molecular Genetics and Metabolism Reports

出版年：2016

5.Repeated misdiagnosis of a relapsed atypical anti-NMDA receptor encephalitis without an associated ovarian teratoma

作者：Weihe Zhang ; ^{z_weihe@hotmail.com} ; ^{zwh_doctor_1982@aliyun.com} ; Li Yan ; Jinsong Jiao ; ^{jinsongjiao@126.com}

关键词：Anti-NMDA receptor encephalitis ; Tumor ; Misdiagnosis ; Differential diagnosis

刊名：Neuroscience Letters

出版年：2017

6.Epilepsy Characteristics and Clinical Outcome in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS)

作者：Ha Neul Lee ; MD^a ; ^b ; Soyong Eom ; PhD^b ; Se Hoon Kim ; MD ; PhD^c ; Hoon-Chul Kang ; MD ; PhD^b ; ^d ; Joon Soo Lee ; MD ; PhD^b ; ^d ; Heung Dong Kim ; MD ; PhD^b ; ^d ; Young-Mock Lee ; MD ; PhD^a ; ^b ; ^{ymleemd@yuhs.ac" class="auth_mail" title="E-mail the corresponding author}

关键词：mitochondrial encephalomyopathy ; lactic acidosis ; and stroke-like episodes ; mitochondria ; pediatric ; seizures ; epilepsy ; MELAS

刊名：Pediatric Neurology

出版年：2016

7.A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13

关键词：FBXL4 ; c.1442T>C ; p.Leu481Pro ; Mitochondrial disorder ; mtDNA depletion ; MTDPS13

刊名：European Journal of Medical Genetics

出版年：2016

8.Mitochondrial Neurogastrointestinal Encephalomyopathy Presenting as Anorexia Nervosa

作者：Francesco Demaria ; M.D.^a ; ^{francesco.demaria@opbg.net" class="auth_mail" title="E-mail the corresponding author} ; Franco De Crescenzo ; M.D. ; M.Sc.^a ; ^b ; Anna Maria Caramadre ; M.D.^a ; Adele D'Amico ; M.D.^c ; Antonella Diamanti ; M.D.^d ; Fabiana Fattori ; Ph.D.^c ; Maria Pia Casini ; M.D.^a ; Stefano Vicari ; M.D. ; Ph.D.^a

关键词：Adolescent ; Anorexia nervosa ; Mitochondrial neurogastrointestinal encephalopathy syndrome ; Thymidine phosphorylase

刊名：Journal of Adolescent Health

出版年：2016

9.Emerging Mitochondrial Therapeutic Targets in Optic Neuropathies

作者：M.I.G. Lopez Sanchez^a ; ^b ; J.G. Crowston^a ; ^b ; D.A. Mackey^c ; I.A. Trounce^a ; ^b ; ^{i.trounce@unimelb.edu.au" class="auth_mail" title="E-mail the corresponding author}

关键词：AAV ; adeno-associated virus ; ADOA ; autosomal dominant optic atrophy ; Cas 9 ; CRISPR-associated protein 9 ; CoQ10 ; coenzyme Q10 ; CR ; caloric restriction ; CRISPR ; clustered regularly interspaced short palindromic repeats ; E2 ; 17β-estradiol ; ER ; estrogen receptor ; FADH2 ; flavin adenine dinucleotide ; IOP ; intra-ocular pressure ; iPSC ; induced pluripotent stem cell ; LHON ; Leber hereditary optic neuropathy ; MELAS ; mitochondrial encephalomyopathy ; lactic acidosis ; and stroke-like episodes ; MERRF ; myocloni

刊名：Pharmacology and Therapeutics

出版年：2016

10.Solid organ transplantation in primary mitochondrial disease: Proceed with caution

作者：Sumit Parikh^a ; ^{parikhs@ccf.org" class="auth_mail" title="E-mail the corresponding author} ; Amel Karaa^b ; Amy Goldstein^c ; Yi S. Ng^d ; Grainne Gorman^d ; Annette Feigenbaum^e ; John Christodoulou^f ; Richard Haas^g ; Mark Tarnopolsky^h ; Bruce K. Cohenⁱ ; David Dimmock^j ; Tim Feyma^k ; Mary K. Koenig^l ; Helen Mundy^m ; David Niyazovⁿ ; Russell P. Saneto^o ; Mark S. Wainwright^p ; Courtney Wusthoff^q ; Robert McFarland^d ; Fernando Scaglia^r

关键词：AHS ; Alpers-Huttenlocher Syndrome ; EPC ; epilepsia-partialis-continua ; KSS ; Kearns-Sayre Syndrome ; MELAS ; Mitochondrial Encephalomyopathy ; Lactic Acidosis and Stroke-like episodes ; MIDD ; Maternally Inherited Diabetes and Deafness ; mtDNA ; Mitochondrial DNA

刊名：Molecular Genetics and Metabolism

出版年：2016

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