作者：Gitte Hedermann ; MD ; ^{hedermann@gmail.com} ; Nicoline Lø ; kken ; MD ^{nicoline.loekken@regionh.dk} ; Julia R Dahlqvist ; MD ^{julia.rebecka.dahlqvist@regionh.dk} ; John Vissing ; MD ; PhD ^{vissing@rh.dk}

关键词：Chronic progressive external ophthalmoplegia ; Dysphagia ; Mitochondrial myopathy ; Single large-scale deletion ; CPEO

刊名：Mitochondrion

出版年：2017

作者：Massimiliano Filosto^a ; ^{massimiliano.filosto@unibs.it" class="auth_mail" title="E-mail the corresponding author} ; Gaetana Lanzi^b ; Claudia Nesti^c ; Valentina Vielmi^a ; Eleonora Marchina^d ; Anna Galvagni^a ; Silvia Giliani^b ; Filippo M. Santorelli^c ; Alessandro Padovani^a

关键词：Mitochondrial diseases ; CPEO ; Huntington disease ; mtDNA ; tRNA

刊名：Molecular Genetics and Metabolism Reports

出版年：2016

作者：Arumugam Paramasivam^a ; Angamuthu Kannan Meena^b ; Lalitha Pedaparthi^b ; Vuskamalla Jyothi^a ; Megha S. Uppin^c ; Shaikh Afshan Jabeen^b ; Challa Sundaram^c ; Kumarasamy Thangaraj^a ; ^{thangs@ccmb.res.in" class="auth_mail" title="E-mail the corresponding author}

关键词：Ptosis ; CPEO ; mtDNA ; Multiple mtDNA deletions ; C10orf2 mutation

刊名：Mitochondrion

出版年：2016

作者：Kathryn M. Camp^a ; ¹ ; ^{campkm@od.nih.gov" class="auth_mail" title="E-mail the corresponding author} ; Danuta Krotoski^b ; ^{krotoskd@mail.nih.gov" class="auth_mail" title="E-mail the corresponding author} ; Melissa A. Parisi^b ; ^{parisima@mail.nih.gov" class="auth_mail" title="E-mail the corresponding author} ; Katrina A. Gwinn^c ; ^{gwinnk@ninds.nih.gov" class="auth_mail" title="E-mail the corresponding author} ; Bruce H. Cohen^d ; ^{bcohen@chmca.org" class="auth_mail" title="E-mail the corresponding author} ; Christine S. Cox^e ; ^{outreach@mitoaction.org" class="auth_mail" title="E-mail the corresponding author} ; Gregory M. Enns^f ; ^{genns@stanford.edu" class="auth_mail" title="E-mail the corresponding author} ; Marni J. Falk^g ; ^{falkm@email.chop.edu" class="auth_mail" title="E-mail the corresponding author} ; Amy C. Goldstein^h ; ^{amy.goldstein@chp.edu" class="auth_mail" title="E-mail the corresponding author} ; Rashmi Gopal-Srivastavaⁱ ; ^{rashmi.gopal-srivastava@nih.gov" class="auth_mail" title="E-mail the corresponding author} ; Grá ; inne S. Gorman^j ; ^{grainne.gorman@newcastle.ac.uk" class="auth_mail" title="E-mail the corresponding author} ; Stephen P. Hersh^k ; ^{hershs@starpower.net" class="auth_mail" title="E-mail the corresponding author} ; Michio Hirano^l ; ^{mh29@cumc.columbia.edu" class="auth_mail" title="E-mail the corresponding author} ; Freddie Ann Hoffman^m ; ^{fhoffman@heterogeneity-LLC.com" class="auth_mail" title="E-mail the corresponding author} ; Amel Karaaⁿ ; ^{akaraa@mgh.harvard.edu" class="auth_mail" title="E-mail the corresponding author} ; Erin L. MacLeod^o ; ^{emacleod@childrensnational.org" class="auth_mail" title="E-mail the corresponding author} ; Robert McFarland^j ; ^{robert.mcfarland@newcastle.ac.uk" class="auth_mail" title="E-mail the corresponding author} ; Charles Mohan^p ; ^{chuckm@umdf.org" class="auth_mail" title="E-mail the corresponding author} ; Andrew E. Mulberg^q ; ² ; ^{amulberg@amicusrx.com" class="auth_mail" title="E-mail the corresponding author} ; Joanne C. Odenkirchen^c ; ^{jo21x@nih.gov" class="auth_mail" title="E-mail the corresponding author} ; Sumit Parikh^r ; ^{parikhs@ccf.org" class="auth_mail" title="E-mail the corresponding author} ; Patricia J. Rutherford^s ; ^{triciarutherford@vitaflo.co.uk" class="auth_mail" title="E-mail the corresponding author} ; Shawne K. Suggs-Anderson^t ; ^{shawne.suggs-anderson@fda.hhs.gov" class="auth_mail" title="E-mail the corresponding author} ; W.H. Wilson Tang^u ; ^{tangw@ccf.org" class="auth_mail" title="E-mail the corresponding author} ; Jerry Vockley^v ; ^{gerard.vockley@chp.edu" class="auth_mail" title="E-mail the corresponding author} ; Lynne A. Wolfe^w ; ^{lynne.wolfe@nih.gov" class="auth_mail" title="E-mail the corresponding author} ; Steven Yannicelli^x ; ^{steven.yannicelli@nutricia.com" class="auth_mail" title="E-mail the corresponding author} ; Philip E. Yeske^p ; ^{philip.yeske@umdf.org" class="auth_mail" title="E-mail the corresponding author} ; Paul M. Coates^a ; ^{coatesp@od.nih.gov" class="auth_mail" title="E-mail the corresponding author}

关键词：ACMG ; American College of Medical Genetics and Genomics ; ATP ; adenosine triphosphate ; CDE ; common data elements ; cGMP ; current good manufacturing practices ; CNS ; central nervous system ; CoQ10 ; coenzyme Q10 ; CPEO ; chronic progressive external ophthalmoplegia ; DSHEA ; Dietary Supplement Health and Education Act of 1994 ; FDA ; U.S. Food and Drug Administration ; FFDCA ; Federal Food ; Drug ; and Cosmetic Act ; GMDI ; Genetic Metabolic Dietitians International ; FSDU ; Food for Special Dietary Use ; IEM ; inbor

刊名：Molecular Genetics and Metabolism

出版年：2016

作者：Amel Karaa^a ; ¹ ; ^{akaraa@mgh.harvard.edu" class="auth_mail" title="E-mail the corresponding author} ; Joshua Kriger^b ; ^{jk3563@cumc.columbia.edu" class="auth_mail" title="E-mail the corresponding author} ; Johnston Grier^b ; ^{jg3145@cumc.columbia.edu" class="auth_mail" title="E-mail the corresponding author} ; Amy Holbert^c ; ^{amy.holbert@epi.usf.edu" class="auth_mail" title="E-mail the corresponding author} ; John L.P. Thompson^b ; ^{jlt12@cumc.columbia.edu" class="auth_mail" title="E-mail the corresponding author} ; Sumit Parikh^d ; ^{parikhs@ccf.org" class="auth_mail" title="E-mail the corresponding author} ; Michio Hirano^e ; ^{mh29@cumc.columbia.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：NAMDC ; North American Mitochondrial Disease Consortium ; RDCRN ; Rare Disease Clinical Research Network ; MD ; mitochondrial disease ; CPEO ; chronic progressive external ophthalmoplegia ; MELAS ; mitochondrial encephalomyopathy with lactic acidosis and stroke ; MERRF ; myoclonic epilepsy with ragged red fibers

刊名：Molecular Genetics and Metabolism

出版年：2016

作者：Chia-Chieh Hsiao^a ; Ni-Chung Lee^b ; ^c ; Pei-Hsin Huang^d ; Tzu-Hsun Tsai^a ; ^e ; ^{lucia_tsai@yahoo.com.tw}

刊名：Journal of the Formosan Medical Association

出版年：2016

作者：E. Keilland^a ; C.A. Rupar^a ; ^b ; ^c ; ^e ; ^g ; Asuri N. Prasad^a ; ^d ; ^e ; ^g ; K.Y. Tay^f ; ^g ; A. Downie^g ; ^h ; C. Prasad^a ; ^e ; ^g ; ^{Chitra.Prasad@lhsc.on.ca" class="auth_mail" title="E-mail the corresponding author}

关键词：MELAS ; MELAS 3291T  ; > ;  C ; tRNAleu (UUR) mutation ; Phenotypic features ; Mitochondrial

刊名：Molecular Genetics and Metabolism Reports

出版年：2016

作者：G. Hedermann^* ; ¹ ; N. Lø ; kken¹ ; J. Dahlqvist¹ ; C. Vissing¹ ; K. Knak¹ ; L. Andersen¹ ; C. Thomsen² ; J. Vissing¹

刊名：Neuromuscular Disorders

出版年：2015

作者：Danhua Zhao ; Zhaoxia Wang ; Daojun Hong ; Wei Zhang ; Yun Yuan

关键词：Chronic progressive external ophthalmoplegia ; Motor neuron disease ; Mitochondrial DNA ; Large-scale deletion

刊名：Clinical Neurology and Neurosurgery

出版年：2013

作者：Kamil S. Sitarz^a ; Hannah R. Elliott^a ; ^b ; Betü ; l S. Karaman^a ; ^c ; Caroline Relton^a ; ^b ; Patrick F. Chinnery^a ; Rita Horvath^a ; ^{Rita.Horvath@ncl.ac.uk" class="auth_mail}

关键词：VPA ; valproic acid/sodium valproate ; mtDNA ; mitochondrial DNA ; POLG ; polymerase 纬 ; AHS ; Alpers&ndash ; Huttenlocher syndrome (OMIM ; 203700) ; MIRAS ; mitochondrial recessive ataxia syndrome ; SANDO ; sensory ataxia ; neuropathy ; dysarthria ; ophthalmoplegia (OMIM ; 607459) ; CPEO ; chronic progressive external ophthalmoplegia (OMIM ; 157640) ; MEM ; minimal essential medium ; FBS ; fetal bovine serum ; NEAA ; non-essential amino acids ; BSA ; bovine serum albumin ; PVDF ; polyvinylidene difluoride ; cDNA ; complementar

刊名：Molecular Genetics and Metabolism

出版年：May 2014