Works matching Progressive external ophthalmoplegia

Results: 413

Clinicogenetical Variants of Progressive External Ophthalmoplegia - An Especial Review of Non-ophthalmic Manifestations.

Published in:

2020

By:

Maghbooli, Mehdi;
Ghaffarpour, Majid;
Ghazizadeh, Taher;
Shalbaf, Nazanin;
MalekMahmoudi, Ghazal;
Shalbaf, Nazanin Azizi

Publication type:

journal article

Progressive External Ophthalmoplegia in Polish Patients—From Clinical Evaluation to Genetic Confirmation.

Published in:

Genes, 2021, v. 12, n. 1, p. 54, doi. 10.3390/genes12010054

By:

Kierdaszuk, Biruta;
Kaliszewska, Magdalena;
Rusecka, Joanna;
Kosińska, Joanna;
Bartnik, Ewa;
Tońska, Katarzyna;
Kamińska, Anna M.;
Kostera-Pruszczyk, Anna

Publication type:

Article

Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism.

Published in:

1996

By:

Melberg, Atle;
Arnell, Henrik;
Dahl, Niklas;
Stålberg, Erik;
Raininko, Raili;
Oldfors, Anders;
Bakall, Benjamin;
Lundberg, Per Olov;
Holme, Elisabeth;
Melberg, A;
Arnell, H;
Dahl, N;
Stålberg, E;
Raininko, R;
Oldfors, A;
Bakall, B;
Lundberg, P O;
Holme, E

Publication type:

journal article

Cystoid Macular Edema in a Patient with Chronic Progressive External Ophthalmoplegia with Mitochondrial Myopathy.

Published in:

Ophthalmic Genetics, 2009, v. 30, n. 1, p. 50, doi. 10.1080/13816810802572601

By:

Brubaker, Jacob W.;
Mohney, Brian G.;
Pulido, Jose S.

Publication type:

Article

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.

Published in:

Brain: A Journal of Neurology, 2014, v. 137, n. 5, p. 1323, doi. 10.1093/brain/awu060

By:

Pfeffer, Gerald;
Gorman, Gráinne S;
Griffin, Helen;
Kurzawa-Akanbi, Marzena;
Blakely, Emma L.;
Wilson, Ian;
Sitarz, Kamil;
Moore, David;
Murphy, Julie L.;
Alston, Charlotte L.;
Pyle, Angela;
Coxhead, Jon;
Payne, Brendan;
Gorrie, George H.;
Longman, Cheryl;
Hadjivassiliou, Marios;
McConville, John;
Dick, David;
Imam, Ibrahim;
Hilton, David

Publication type:

Article

Esophageal contractions in patients with chronic progressive external ophthalmoplegia.

Published in:

2011

By:

Domenis, Danielle;
Okubo, Paula;
Sobreira, Cláudia;
Dantas, Roberto;
Domenis, Danielle Ramos;
Okubo, Paula Macedo Carvalho Issa;
Sobreira, Cláudia;
Dantas, Roberto Oliveira

Publication type:

journal article

Chronic Progressive External Ophthalmoplegia.

Published in:

American Orthoptic Journal, 2005, v. 55, p. 13, doi. 10.3368/aoj.55.1.13

By:

Shimko, Jacqueline W.

Publication type:

Article

Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism.

Published in:

Journal of Neurology, 2011, v. 258, n. 7, p. 1327, doi. 10.1007/s00415-011-5936-x

By:

Sato, Kazunori;
Yabe, Ichiro;
Yaguchi, Hiroaki;
Nakano, Fumihito;
Kunieda, Yasuyuki;
Saitoh, Shinji;
Sasaki, Hidenao

Publication type:

Article

Have one's view of the important overshadowed by the trivial: chronic progressive external ophthalmoplegia combined with unilateral facial nerve injury: a case report and literature review.

Published in:

Frontiers in Neurology, 2024, p. 01, doi. 10.3389/fneur.2023.1268053

By:

Ziyang Feng;
Rui Lai;
Jia Wei;
Xuan Liu;
Xueqin Chen;
Yangsicheng Liu;
Wenxin Qin;
Xiude Qin;
Fanxin Kong

Publication type:

Article

CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA VS. MYASTHENIA GRAVIS - CASE REPORT AND REVIEW OF LITERATURE.

Published in:

Romanian Journal of Neurology, 2020, v. 19, n. 2, p. 127, doi. 10.37897/RJN.2020.2.13

By:

Dima, Alexandru;
Oprisan, Alexandra;
Bastian, Alexandra E.

Publication type:

Article

An autopsy case of chronic progressive external ophthalmoplegia with renal insufficiency.

Published in:

Medical Molecular Morphology, 2008, v. 41, n. 4, p. 233, doi. 10.1007/s00795-008-0420-0

By:

Yuri, Takashi;
Kondo, Yaeko;
Kohno, Keiko;
Yen-Chang Lei;
Kanematsu, Seika;
Kuwata, Maki;
Iwasaka, Toshiji;
Tsubura, Airo

Publication type:

Article

Mitochondrial Chronic Progressive External Ophthalmoplegia.

Published in:

Brain Sciences (2076-3425), 2024, v. 14, n. 2, p. 135, doi. 10.3390/brainsci14020135

By:

Ali, Ali;
Esmaeil, Ali;
Behbehani, Raed

Publication type:

Article

Genotype–Phenotype Correlation in Progressive External Ophthalmoplegia: Insights From a Retrospective Analysis.

Published in:

Neuropathology & Applied Neurobiology, 2025, v. 51, n. 1, p. 1, doi. 10.1111/nan.70001

By:

Wang, Jiayin;
Lin, Yan;
Zhuang, Xingyu;
Zhao, Dandan;
Li, Busu;
Zhao, Ying;
Xu, Zhe;
Liu, Fuchen;
Dai, Tingjun;
Li, Wei;
Jiang, Min;
Yan, Chuanzhu;
Zhao, Yuying;
Ji, Kunqian

Publication type:

Article

Cognitive Profile of Patients With Mitochondrial Chronic Progressive External Ophthalmoplegia.

Published in:

Frontiers in Neurology, 2020, p. 1, doi. 10.3389/fneur.2020.00036

By:

Zhang, Guanyu;
Hou, Yue;
Wang, Zhaoxia;
Ye, Zheng

Publication type:

Article

Lack of apoptosis in patients with progressive external ophthalmoplegia and mutated adenine nucleotide translocator-1 gene.

Published in:

Muscle & Nerve, 2002, v. 26, n. 2, p. 265, doi. 10.1002/mus.10172

By:

Fagiolari, Gigliola;
Sciacco, Monica;
Chiveri, Luca;
Lamperti, Costanza;
Comi, Giacomo Pietro;
Scarlato, Guglielmo;
Moggio, Maurizio;
Prelle, Alessandro

Publication type:

Article

Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism.

Published in:

1996

By:

Melberg, Atle;
Lundberg, Per Olov;
Henriksson, Karl G.;
Olsson, Yngve;
Stålberg, Erik;
Melberg, A;
Lundberg, P O;
Henriksson, K G;
Olsson, Y;
Stålberg, E

Publication type:

journal article

Muscle fatigue, lactate, and pyruvate in mitochondrial myopathy with progressive external ophthalmoplegia.

Published in:

1996

By:

Dengler, Reinhard;
Wohlfarth, Kai;
Zierz, Stephan;
Jöbges, Michael;
Schubert, Margot;
Dengler, R;
Wohlfarth, K;
Zierz, S;
Jobges, M;
Schubert, M

Publication type:

journal article

Clinical, neuroelectrophysiological and muscular pathological analysis of chronic progressive external ophthalmoplegia.

Published in:

Experimental & Therapeutic Medicine, 2020, v. 20, n. 2, p. 1770, doi. 10.3892/etm.2020.8822

By:

Lv, Haidong;
Qu, Qianqian;
Liu, Haiyan;
Qian, Qi;
Zheng, Xianzhao;
Zhang, Yan

Publication type:

Article

Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegia.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 6, p. 555, doi. 10.1007/s10038-006-0397-2

By:

Kin, Tesseki;
Sugie, Kazuma;
Hirano, Makito;
Goto, Yu-ichi;
Nishino, Ichizo;
Ueno, Satoshi

Publication type:

Article

Intracranial hypotension mimicking chronic progressive external ophthalmoplegia.

Published in:

Orbit, 2018, v. 37, n. 5, p. 371, doi. 10.1080/01676830.2017.1423346

By:

Vahdani, Kaveh;
McVeigh, Katherine;
Harrison, Rhys;
Williams, Mandy;
Garrott, Helen

Publication type:

Article

Relapsing remitting multiple sclerosis in progressive external ophthalmoplegia: A report of two cases.

Published in:

Multiple Sclerosis Journal, 2019, v. 25, n. 6, p. 879, doi. 10.1177/1352458518800794

By:

Patel, Kevin R;
Karaa, Amel;
Mateen, Farrah J

Publication type:

Article

Mitochondrial DNA depletion in progressive external ophthalmoplegia caused by POLG1 mutations.

Published in:

Acta Neurologica Scandinavica: Supplementum, 2009, v. 120, p. 38, doi. 10.1111/j.1600-0404.2009.01212.x

By:

Tzoulis, C.;
Papingji, M.;
Fiskestrand, T.;
Røste, L. S.;
Bindoff, L. A.

Publication type:

Article

Concerted action of two novel tRNA mtDNA point mutations in chronic progressive external ophthalmoplegia.

Published in:

Bioscience Reports, 2008, v. 28, n. 2, p. 89, doi. 10.1042/BSR20080004

By:

KORNBLUM, Cornelia;
ZSURKA, Gábor;
WIESNER, Rudolf J.;
SCHRöDER, Rolf;
KUNZ, Wolfram S.

Publication type:

Article

Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status.

Published in:

Brain: A Journal of Neurology, 1996, v. 119, n. 3, p. 997, doi. 10.1093/brain/119.3.997

By:

Domburg, P. H. M. F. van;
Gabreëls-Festen, A. A. W. M.;
Gabreëls, F. J. M.;
Coo, R. de;
Ruitenbeek, W.;
Wesseling, P.;
Laak, H. ter

Publication type:

Article

Skeletal muscle pathology in chronic progressive external ophthalmoplegia with ragged-red fibers.

Published in:

Acta Neuropathologica, 1988, v. 76, n. 6, p. 558, doi. 10.1007/BF00689593

By:

Yamamoto, M.;
Nonaka, I.

Publication type:

Article

Hirano bodies in the axon of peripheral nerves in a case with progressive external ophthalmoplegia with multisystemic involvements.

Published in:

Acta Neuropathologica, 1980, v. 49, n. 2, p. 95, doi. 10.1007/BF00690748

By:

Atsumi, Tetsushi;
Yamamura, Yasuhiro;
Sato, Takeshi;
Ikuta, Fusahiro

Publication type:

Article

Kronik Progresif Eksternal Oftalmoplejili Hastalarda Pitozis Cerrahisi Sonuçları.

Published in:

Turkish Journal of Ophthalmology / Turk Oftalmoloji Dergisi, 2014, v. 44, n. 5, p. 379, doi. 10.4274/tjo.74508

By:

Uğurlu, Şeyda;
Atik, Sevinç;
Işık, Mehmet Reşit;
Diniz, Gülden

Publication type:

Article

Type and Frequency of Misdiagnosis and Time Lag to Diagnosis in Patients with Chronic Progressive External Ophthalmoplegia.

Published in:

Journal of Ophthalmic & Vision Research, 2024, v. 19, n. 3, p. 334, doi. 10.18502/jovr.v19i3.13998

By:

Karimi, Nasser;
Ghahvehchian, Hossein;
Keyhani, Ali;
Manavishad, Amir;
Compton, Christopher J.;
Clark, Jeremy D.;
West, Nicole L.;
Kashkouli, Mohsen B.

Publication type:

Article

Novel and recurrent nuclear gene variations in a cohort of Chinese progressive external ophthalmoplegia patients with multiple mtDNA deletions.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 5, p. 1, doi. 10.1002/mgg3.1921

By:

Hou, Yue;
Zhao, Xutong;
Xie, Zhiying;
Yu, Meng;
Lv, He;
Zhang, Wei;
Yuan, Yun;
Wang, Zhaoxia

Publication type:

Article

Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change.

Published in:

Archives of Iranian Medicine (AIM), 2016, v. 19, n. 2, p. 87

By:

Tafakhori, Abbas;
Yu Jin Ng, Alvin;
Tohari, Sumanty;
Venkatesh, Byrappa;
Lee, Hane;
Eskin, Ascia;
Nelson, Stanley F.;
Bonnard, Carine;
Reversade, Bruno;
Kariminejad, Ariana

Publication type:

Article

Exophthalmos associated with chronic progressive external ophthalmoplegia.

Published in:

Japanese Journal of Ophthalmology, 2022, v. 66, n. 3, p. 314, doi. 10.1007/s10384-022-00920-5

By:

Takeda, Yu;
Suzuki, Hiroko;
Hosono, Katsuhiro;
Hikoya, Akiko;
Komori, Miwa;
Inagaki, Risako;
Haseoka, Takashi;
Arai, Shinji;
Takagi, Yuri;
Hotta, Yoshihiro;
Sato, Miho

Publication type:

Article

Twinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia.

Published in:

Neurological Sciences, 2014, v. 35, n. 3, p. 443, doi. 10.1007/s10072-013-1557-8

By:

Ji, Kunqian;
Liu, Kaiming;
Lin, Pengfei;
Wen, Bing;
Luo, Yue-Bei;
Zhao, Yuying;
Yan, Chuanzhu

Publication type:

Article

Oculo-auriculo-vertebral spectrum associated to progressive external ophthalmoplegia. Biological, laboratory, electrophysiological and clinical aspects.

Published in:

Journal of Biological Research / Bollettino della Società Italiana di Biologia Sperimentale, 2018, v. 91, n. 1, p. 56, doi. 10.4081/jbr.2018.7214

By:

Berio, Agostino;
Garlaschi, Giacomo;
Mariottini, Gian Luigi;
Calcagno, Enrico;
Piazzi, Attilia

Publication type:

Article

Kearns–Sayre syndrome presenting with progressive external ophthalmoplegia and third-degree atrioventricular block diagnostic challenge in resource-limited settings: a case report.

Published in:

2025

By:

Azibte, Gebeyehu Tessema;
Ayalew, Zekarias Seifu;
Molla, Bereket Abraha;
Ayele, Meseret Zewdie;
Bezabeh, Temesgen Baylie;
Wube, Surafiel Adugna;
Legesse, Biruk Abate;
Meresa, Tigist Kahsay

Publication type:

Case Study

Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations.

Published in:

Journal of Clinical Medicine, 2022, v. 11, n. 1, p. 22, doi. 10.3390/jcm11010022

By:

Bermejo-Guerrero, Laura;
de Fuenmayor-Fernández de la Hoz, Carlos Pablo;
Serrano-Lorenzo, Pablo;
Blázquez-Encinar, Alberto;
Gutiérrez-Gutiérrez, Gerardo;
Martínez-Vicente, Laura;
Galán-Dávila, Lucía;
García-García, Jorge;
Arenas, Joaquín;
Muelas, Nuria;
Hernández-Laín, Aurelio;
Domínguez-González, Cristina;
Martín, Miguel A.

Publication type:

Article

Brain Metabolic Profiles Obtained by Proton MRS in Two Forms of Mitochondriopathies: Leber’s Hereditary Optic Neuropathy and Chronic Progressive External Ophthalmoplegia.

Published in:

European Neurology, 1998, v. 40, n. 1, p. 46, doi. 10.1159/000007955

By:

Salvan, Anne-Marie;
Vion-Dury, Jean;
Confort-Gouny, Sylviane;
Sangla, Iban;
Pouget, Jean;
Cozzone, Patrick J.

Publication type:

Article

MYH2-related Myopathy: Expanding the Clinical Spectrum of Chronic Progressive External Ophthalmoplegia (CPEO).

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 727, doi. 10.3233/JND-230017

By:

Baskar, Dipti;
Vengalil, Seena;
Nashi, Saraswati;
Bardhan, Mainak;
Srivastava, Kosha;
Sanka, Sai Bhargava;
Polavarapu, Kiran;
Menon, Deepak;
Preethish-Kumar, Veeramani;
Padmanabha, Hansashree;
Arunachal, Gautham;
Nalini, Atchayaram

Publication type:

Article

Progressive External Ophthalmoplegia in Southwestern Finland: A Clinical and Genetic Study.

Published in:

Neuroepidemiology, 2012, v. 38, n. 2, p. 114, doi. 10.1159/000336112

By:

Martikainen, Mika H.;
Hinttala, Reetta;
Röyttä, Matias;
Jääskeläinen, Satu;
Wendelin-Saarenhovi, Maria;
Parkkola, Riitta;
Majamaa, Kari

Publication type:

Article

Pontine stroke in a patient with Chronic Progressive External Ophthalmoplegia (CPEO): a case report.

Published in:

2023

By:

Eliyan, Yazan;
Rezania, Kourosh;
Gomez, Christopher M.;
Seibert, Kaitlin

Publication type:

Case Study

Nature and frequency of respiratory involvement in chronic progressive external ophthalmoplegia.

Published in:

Journal of Neurology, 2011, v. 258, n. 11, p. 2020, doi. 10.1007/s00415-011-6060-7

By:

Smits, Bart;
Heijdra, Yvonne;
Cuppen, Femke;
Engelen, Baziel

Publication type:

Article

Novel Twinkle ( PEO1) gene mutations in mendelian progressive external ophthalmoplegia.

Published in:

Journal of Neurology, 2008, v. 255, n. 9, p. 1384, doi. 10.1007/s00415-008-0926-3

By:

Virgilio, R.;
Ronchi, D.;
Hadjigeorgiou, G.;
Bordoni, A.;
Saladino, F.;
Moggio, M.;
Adobbati, L.;
Kafetsouli, D.;
Tsironi, E.;
Previtali, S.;
Papadimitriou, A.;
Bresolin, N.;
Comi, G.

Publication type:

Article

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA (PEO): PRESENTATION OF A MITOCHONDRIAL MYOPATHY ACCOMPANIED BY ELECTRON MICROSCOPE.

Published in:

Journal of International Dental & Medical Research, 2010, v. 3, n. 3, p. 154

By:

Aktas, Ayfer;
Tasdemir, Mehmet Serhan;
Tasdemir, Nebahat;
Nergiz, Yusuf

Publication type:

Article

Strabismus in chronic progressive external ophthalmoplegia.

Published in:

Acta Ophthalmologica (1755375X), 2021, v. 99, n. 2, p. e274, doi. 10.1111/aos.14558

By:

Kim, Ji Yeon;
Yang, Hee Kyung;
Kim, Namju;
Kim, Man Jin;
Cho, Sung Im;
Seong, Moon‐Woo;
Park, Sung Sup;
Hwang, Jeong‐Min

Publication type:

Article

A Family With Chronic Progressive External Ophthalmoplegia.

Published in:

Turkish Journal of Medical Sciences, 2004, v. 34, n. 3, p. 199

By:

Koç, A. Filiz;
Zorludemir, Suzan;
Bozdemir, Hacer

Publication type:

Article

Update on Chronic Progressive External Ophthalmoplegia.

Published in:

Strabismus (09273972), 2005, v. 13, n. 3, p. 133, doi. 10.1080/09273970500216432

By:

Bau, Viktoria;
Zierz, Stephan

Publication type:

Article

Mutations of mitochondrial DNA polymerase γA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

Published in:

Annals of Neurology, 2002, v. 52, n. 2, p. 211, doi. 10.1002/ana.10278

By:

Lamantea, Eleonora;
Tiranti, Valeria;
Bordoni, Andreina;
Toscano, Antonio;
Bono, Francesco;
Servidei, Serena;
Papadimitriou, Alex;
Spelbrink, Hans;
Silvestri, Laura;
Casari, Giorgio;
Comi, Giacomo P.;
Zeviani, Massimo

Publication type:

Article

A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions.

Published in:

Annals of Neurology, 2002, v. 51, n. 5, p. 645, doi. 10.1002/ana.10172

By:

Komaki, Hirofumi;
Fukazawa, Toshiyuki;
Houzen, Hideki;
Yoshida, Kazuto;
Nonaka, Ikuya;
Goto, Yu-Ichi

Publication type:

Article

Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia.

Published in:

Annals of Neurology, 1996, v. 40, n. 5, p. 707, doi. 10.1002/ana.410400506

By:

Moslemi, Ali-Reza;
Oldfors, Anders;
Melberg, Atle;
Holme, Elisabeth

Publication type:

Article

Tetracycline treatment in patients with progressive external ophthalmoplegia.

Published in:

Acta Neurologica Scandinavica, 2011, v. 124, n. 6, p. 417, doi. 10.1111/j.1600-0404.2011.01536.x

By:

Mancuso, M.;
Orsucci, D.;
Calsolaro, V.;
LoGerfo, A.;
Allegrini, L.;
Petrozzi, L.;
Simoncini, C.;
Rocchi, A.;
Trivella, F.;
Murri, L.;
Siciliano, G.

Publication type:

Article

Congenital Myopathy With Progressive External Ophthalmoplegia.

Published in:

Journal of Child Neurology, 1989, v. 4, n. 3, p. 195, doi. 10.1177/088307388900400308

By:

Riggs, Jack E.;
Schochet, Sydney S.;
Goldfarb, Glenn R.;
Price, Rebecca A.

Publication type:

Article