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Elsevier电子期刊(104)

在“Elsevier电子期刊”中，命中：104条，耗时：0.0479775 秒

在所有数据库中总计命中：130条

作者：Clifford Qualls^a ; ^{clifford.qualls@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Mario Kornfeld^b ; ^{mkornfeld@salud.unm.edu" class="auth_mail" title="E-mail the corresponding author} ; Nancy Joste^b ; ^{njoste@salud.unm.edu" class="auth_mail" title="E-mail the corresponding author} ; Abdul-Mehdi Ali^c ; ^{mehdiali@unm.edu" class="auth_mail" title="E-mail the corresponding author} ; Otto Appenzeller^d ; ^{ottoarun12@aol.com" class="auth_mail" title="E-mail the corresponding author}

关键词：Neurotoxins ; Gene mutations ; Mercury ; Arsenic ; Lead ; Selenium ; MPV17-related hepatocerebral mitochondrial DNA depletion syndrome ; Anthropocene

刊名：eNeurologicalSci

出版年：2016

2.Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome

关键词：COX ; cytochrome oxidase ; M2 ; deoxyguanosine kinase-deficient rat model ; DGUOK ; deoxyguanosine kinase ; EPR (ESR) ; electron paramagnetic (spin) resonance (spectroscopy) ; FeS ; iron&ndash ; sulfur (cluster) ; H&E ; hematoxylin and eosin ; MD ; mitochondrial disease ; MDS ; mitochondrial DNA depletion syndrome ; MPV17 ; mitochondrial inner membrane protein ; mtDNA ; mitochondrial DNA ; NADH ; reduced nicotinamide adenine dinucleotide ; POLG ; DNA polymerase γ ; SDH ; succinate dehydrogenase ; TWINKLE ; a mitochondrial D

刊名：Free Radical Biology and Medicine

出版年：2016

3.MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome

作者：Joonil Kim^a ; Eungu Kang^a ; Yoonmyung Kim^a ; Jae-Min Kim^b ; Beom Hee Lee^a ; ^b ; Kei Murayama^c ; Gu-Hwan Kim^b ; In Hee Choi^b ; Kyung Mo Kim^a ; Han-Wook Yoo^a ; ^b ; ^{hwyoo@amc.seoul.kr" class="auth_mail" title="E-mail the corresponding author}

关键词：MDS ; mitochondrial DNA depletion syndrome ; SD ; standard deviation

刊名：Molecular Genetics and Metabolism Reports

出版年：2016

4.Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion

作者：Hemant Varma^a ; ^e ; Phyllis L. Faust^a ; Alejandro D. Iglesias^b ; Stephen M. Lagana^a ; Karen Wou^c ; Michio Hirano^d ; Salvatore DiMauro^d ; Mahesh M. Mansukani^a ; ^e ; Kirsten E. Hoff^f ; Peter L. Nagy^a ; ^e ; William C. Copeland^f ; ^{copelan1@niehs.nih.gov" class="auth_mail" title="E-mail the corresponding author} ; Ali B. Naini^a ; ^e ; ^{abn2@cumc.columbia.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：Mitochondrial DNA depletion ; POLG2 ; Hepatic failure ; Whole-exome sequencing ; POLG

刊名：European Journal of Medical Genetics

出版年：2016

5.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

6.Clinical and Molecular Characteristics of Mitochondrial DNA Depletion Syndrome Associated with Neonatal Cholestasis and Liver Failure

作者：Abdulrahman Al-Hussaini ; MD¹ ; ^{aa_alhussaini@yahoo.com" class="auth_mail} ; Eissa Faqeih ; MD² ; Ayman W. El-Hattab ; MD² ; Majid Alfadhel³ ; Ali Asery ; MD¹ ; Badr Alsaleem ; MD¹ ; Eman Bakhsh ; MD⁴ ; Ashraf Ali ; MD⁵ ; Ali Alasmari ; MD² ; Khurram Lone ; MD¹ ; Ahmed Nahari ; MD¹ ; Wafaa Eyaid ; MD³ ; Mohammed Al Balwi ; MD⁵ ; ⁶ ; Kate Craig ; PhD⁷ ; Anna Butterworth ; BSc⁷ ; Langping He ; PhD⁷ ; Robert W. Taylor ; PhD ; FRCPath⁷

关键词：ATP ; Adenosine triphosphate ; DGUOK ; Deoxyguanosine kinase ; MDS ; Mitochondrial DNA depletion syndrome ; MRI ; Magnetic resonance imaging ; mtDNA ; Mitochondrial DNA

刊名：The Journal of Pediatrics

出版年：March, 2014

7.OP46 - 2969: Novel phenotypes of childhood encephalomyopathies with mitochondrial DNA depletion or deletions

作者：M.R. Hautakangas ; T. Komulainen ; R. Hinttala ; S. Pakanen ; V. Vä ; hä ; saija ; P. Lehenkari ; P. Olsen ; P. Vieira ; O. Saarenpä ; ä ; -Heikkilä ; J. Palmio ; H. Tuominen ; P. Kinnunen ; K. Majamaa ; H. Rantala ; J. Uusimaa

刊名：European Journal of Paediatric Neurology

出版年：2015

8.Deletion of Mitochondrial Porin Alleviates Stress Sensitivity in the Yeast Model of Shwachman-Diamond Syndrome

作者：Waruenada Kanprasoet^a ; ¹ ; Laran T. Jensen^b ; ¹ ; Suwimon Sriprach^a ; Kanate Thitiananpakorn^c ; Khanti Rattanapornsompong^b ; Amornrat Naranuntarat Jensen^a ; ^{amornrat.nar@mahidol.ac.th" class="auth_mail" title="E-mail the corresponding author}

关键词：Shwachman-Diamond syndrome ; Oxidative stress ; Yeast ; Porin ; Mitochondria

刊名：Journal of Genetics and Genomics

出版年：2015

9.Coenzyme Q₁₀ deficiency in mitochondrial DNA depletion syndromes

作者：Raquel Montero^a ; ^b ; Manuela Grazina^c ; ^d ; Ester Ló ; pez-Gallardo^b ; ^e ; Julio Montoya^b ; ^e ; Paz Briones^b ; ^f ; ^g ; Aleix Navarro-Sastre^b ; ^f ; John M. Land^h ; Iain P. Hargreaves^h ; Rafael Artuch^a ; ^b ; ^{rartuch@hsjdbcn.org} ; Coenzyme Q10 deficiency study group. Coenzyme Q10 deficiency study group

关键词：CoQ ; Coenzyme Q10 ; MDS ; mitochondrial DNA depletion syndromes ; HPLC ; high pressure liquid chromatography ; mtDNA ; mitochondrial DNA ; MRC ; mitochondrial respiratory chain ; CS ; citrate synthase

刊名：Mitochondrion

出版年：2013

10.Bovine TWINKLE and mitochondrial ribosomal protein L43 genes are regulated by an evolutionary conserved bidirectional promoter

作者：C茅dric Meersseman ; V茅ronique L茅jard ; Emmanuelle Rebours ; Mekki Boussaha ; Abderrahman Maftah ; Daniel Petit ; Dominique Rocha

关键词：AcGFP1 ; Aequorea coerulescens green fluorescent protein 1 ; ATP ; adenosine triphosphate ; bp ; base pair ; C. elegans ; Caenorhabditis elegans ; DMEM ; Dulbecco's Modified Eagle's Medium ; DNA ; deoxyribonucleic acid ; DsRed ; Discosoma striata Red ; E. coli ; Escherichia coli ; EDTA ; ethylenediaminetetraacetic acid ; FBS ; foetal bovine serum ; MRPL43 ; mitochondrial ribosomal protein L43 ; mtDNA ; mitochondrial DNA ; MTDPS7 ; mitochondrial DNA depletion syndrome-7 ; Mya ; million years ago ; OMIM ; online Mendelian inh

刊名：Gene

出版年：1 March, 2014

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