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Items: 1 to 20 of 218

1.
Cognitive Profile of Patients With Mitochondrial Chronic Progressive External Ophthalmoplegia
Guanyu Zhang, Yue Hou, Zhaoxia Wang, Zheng Ye
Front Neurol. 2020; 11: 36. Published online 2020 Jan 29. doi: 10.3389/fneur.2020.00036
PMCID:
PMC7000654
AbstractArticlePDF–374K
2.
Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant
Mafalda Bacalhau, Marta Simões, Mariana C. Rocha, Steven A. Hardy, Amy E. Vincent, João Durães, Maria C. Macário, Maria João Santos, Olinda Rebelo, Carla Lopes, João Pratas, Cândida Mendes, Mónica Zuzarte, A. Cristina Rego, Henrique Girão, Lee-Jun C. Wong, Robert W. Taylor, Manuela Grazina
Neuromuscul Disord. 2018 Apr; 28(4): 350–360. doi: 10.1016/j.nmd.2017.11.006
PMCID:
PMC5952895
AbstractArticlePDF–3.0M
3.
A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions
Henna Tyynismaa, Emil Ylikallio, Mehul Patel, Maria J. Molnar, Ronald G. Haller, Anu Suomalainen
Am J Hum Genet. 2009 Aug 14; 85(2): 290–295. doi: 10.1016/j.ajhg.2009.07.009
PMCID:
PMC2725268
AbstractArticlePDF–472K
4.
The m.3244G>A mutation in mtDNA is another cause of progressive external ophthalmoplegia
Evangelia Sotiriou, Jorida Çoku, Kurenai Tanji, Hua-bin Huang, Michio Hirano, Salvatore DiMauro
Neuromuscul Disord. Author manuscript; available in PMC 2010 Apr 1.
Published in final edited form as: Neuromuscul Disord. 2009 Apr; 19(4): 297–299. Published online 2009 Mar 13. doi: 10.1016/j.nmd.2009.01.014
PMCID:
PMC2699630
AbstractArticlePDF–374K
5.
Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling
Steffi Goffart, Helen M. Cooper, Henna Tyynismaa, Sjoerd Wanrooij, Anu Suomalainen, Johannes N. Spelbrink
Hum Mol Genet. 2009 Jan 15; 18(2): 328–340. Published online 2008 Oct 29. doi: 10.1093/hmg/ddn359
PMCID:
PMC2638771
AbstractArticlePDF–1.0M
6.
Optical coherence tomography findings in chronic progressive external ophthalmoplegia
Yuan Wu, Lei Kang, Hai-Long Wu, Yue Hou, Zhao-Xia Wang
Chin Med J (Engl) 2019 May 20; 132(10): 1202–1207. Published online 2019 May 20. doi: 10.1097/CM9.0000000000000262
PMCID:
PMC6511415
AbstractArticlePDF–37M
7.
Cardiac dysfunction in patients with chronic progressive external ophthalmoplegia
Masashi Akaike, Hisaomi Kawai, Kenji Yokoi, Makoto Kunishige, Hideki Mine, Yoshihiko Nishida, Shiro Saito
Clin Cardiol. 1997 Mar; 20(3): 239–243. Published online 2009 Feb 3. doi: 10.1002/clc.4960200310
PMCID:
PMC6656238
SummaryPDF–632K
8.
Chronic Progressive External Ophthalmoplegia and Bilateral Vestibular Hypofunction: Balance, Gait, and Eye Movement Before and After Multimodal Chiropractic Care: A Case Study
Brent S. Russell, Ronald S. Hosek, Kathryn T. Hoiriis, Emily D. Drake
J Chiropr Med. 2019 Jun; 18(2): 144–154. Published online 2019 Jul 1. doi: 10.1016/j.jcm.2018.11.004
PMCID:
PMC6656914
AbstractArticlePDF–1.1M
9.
Cellular alterations identified in pluripotent stem cell-derived midbrain spheroids generated from a female patient with progressive external ophthalmoplegia and parkinsonism who carries a novel variation (p.Q811R) in the POLG1 gene
Margarita Chumarina, Kaspar Russ, Carla Azevedo, Andreas Heuer, Maria Pihl, Anna Collin, Eleonor Åsander Frostner, Eskil Elmer, Poul Hyttel, Graziella Cappelletti, Michela Zini, Stefano Goldwurm, Laurent Roybon
Acta Neuropathol Commun. 2019; 7: 208. Published online 2019 Dec 16. doi: 10.1186/s40478-019-0863-7
PMCID:
PMC6916051
AbstractArticlePDF–4.5M
10.
Suppression of Mitochondrial DNA Instability of Autosomal Dominant Forms of Progressive External Ophthalmoplegia-Associated ANT1 Mutations in Podospora anserina
Riyad El-Khoury, Annie Sainsard-Chanet
Genetics. 2009 Nov; 183(3): 861–871. doi: 10.1534/genetics.109.107813
PMCID:
PMC2778982
AbstractArticlePDF–2.0M
11.
Frequency of dystrophic muscle abnormalities in chronic progressive external ophthalmoplegia: analysis of 86 patients
B H Kiyomoto, C H Tengan, C K Costa, A S Oliveira, B Schmidt, A A Gabbai
J Neurol Neurosurg Psychiatry. 2006 Apr; 77(4): 541–543. doi: 10.1136/jnnp.2005.079954
PMCID:
PMC2077486
AbstractArticlePDF–375K
12.
Clinical, neuroelectrophysiological and muscular pathological analysis of chronic progressive external ophthalmoplegia
Haidong Lv, Qianqian Qu, Haiyan Liu, Qi Qian, Xianzhao Zheng, Yan Zhang
Exp Ther Med. 2020 Aug; 20(2): 1770–1774. Published online 2020 May 30. doi: 10.3892/etm.2020.8822
PMCID:
PMC7388235
AbstractArticlePDF–402K
13.
Orbital Magnetic Resonance Imaging of Extraocular Muscles in Chronic Progressive External Ophthalmoplegia: Specific Diagnostic Findings
Maria Carolina Ortube, Rahul Bhola, Joseph L. Demer
J AAPOS. Author manuscript; available in PMC 2007 Oct 1.
Published in final edited form as: J AAPOS. 2006 Oct; 10(5): 414–418. doi: 10.1016/j.jaapos.2006.04.012
PMCID:
PMC1850670
AbstractArticlePDF–276K
14.
Progressive external ophthalmoplegia associated with novel MT‐TN mutations
Kittichate Visuttijai, Carola Hedberg‐Oldfors, Ulrika Lindgren, Sara Nordström, Ólöf Elíasdóttir, Christopher Lindberg, Anders Oldfors
Acta Neurol Scand. 2021 Jan; 143(1): 103–108. Published online 2020 Sep 19. doi: 10.1111/ane.13339
PMCID:
PMC7756270
AbstractArticlePDF–1.8M
15.
Progressive External Ophthalmoplegia in Polish Patients—From Clinical Evaluation to Genetic Confirmation
Biruta Kierdaszuk, Magdalena Kaliszewska, Joanna Rusecka, Joanna Kosińska, Ewa Bartnik, Katarzyna Tońska, Anna M. Kamińska, Anna Kostera-Pruszczyk
Genes (Basel) 2021 Jan; 12(1): 54. Published online 2020 Dec 31. doi: 10.3390/genes12010054
PMCID:
PMC7824435
AbstractArticlePDF–4.8M
16.
Human extraocular muscles in mitochondrial diseases: comparing chronic progressive external ophthalmoplegia with Leber’s hereditary optic neuropathy
A Carta, V Carelli, T D’Adda, F N Ross-Cisneros, A A Sadun
Br J Ophthalmol. 2005 Jul; 89(7): 825–827. doi: 10.1136/bjo.2004.060590
PMCID:
PMC1772744
AbstractArticlePDF–199K
17.
Two families with autosomal dominant progressive external ophthalmoplegia
S Kiechl, R Horvath, P Luoma, U Kiechl-Kohlendorf..., B Wallacher-Scholz, R Stucka, C Thaler, J Wanschitz, A Suomalainen, M Jaksch, J Willeit
J Neurol Neurosurg Psychiatry. 2004 Aug; 75(8): 1125–1128. doi: 10.1136/jnnp.2003.025890
PMCID:
PMC1739155
SummaryPDF–176K
18.
MR of extraocular muscles in chronic progressive external ophthalmoplegia.
T J Carlow, M H Depper, W W Orrison, Jr
AJNR Am J Neuroradiol. 1998 Jan; 19(1): 95-9.
PMCID:
PMC8337335
SummaryPDF–417K
19.
Impairment of mitochonrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia
A Schaller, R Desetty, D Hahn, C B Jackson, J-M Nuoffer, S Gallati, L Levinger
Mitochondrion. Author manuscript; available in PMC 2012 May 1.
Published in final edited form as: Mitochondrion. 2011 May; 11(3): 488–496. Published online 2011 Feb 1. doi: 10.1016/j.mito.2011.01.005
PMCID:
PMC3075320
AbstractArticlePDF–3.7M
20.
Progressive external ophthalmoplegia (PEO) due to a mutation in the C10orf2 (PEO1) gene mimicking a myasthenic crisis
Dolores Gonzalez-Moron, Jose Bueri, Marcelo Andres Kauffman
BMJ Case Rep. 2013; 2013: bcr2013010181. Published online 2013 Sep 7. doi: 10.1136/bcr-2013-010181
PMCID:
PMC3794138
AbstractArticlePDF–84K

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