Works matching DE "CHRONIC progressive external opthalmoplegia"

Results: 44

Mitochondrial myopathies diagnosed in adulthood: clinico-genetic spectrum and long-term outcomes.

Published in:

Brain Communications, 2024, v. 6, n. 2, p. 1, doi. 10.1093/braincomms/fcae041

By:

Beecher, Grayson;
Gavrilova, Ralitza H;
Mandrekar, Jay;
Naddaf, Elie

Publication type:

Article

Heterozygous Polg mutation causes motor dysfunction due to mt DNA deletions.

Published in:

Annals of Clinical & Translational Neurology, 2014, v. 1, n. 11, p. 909, doi. 10.1002/acn3.133

By:

Fuke, Satoshi;
Kametani, Mizue;
Yamada, Kazuyuki;
Kasahara, Takaoki;
Kubota ‐ Sakashita, Mie;
Kujoth, Gregory C.;
Prolla, Tomas A.;
Hitoshi, Seiji;
Kato, Tadafumi

Publication type:

Article

Pituitary apoplexy: clinical features, management and outcome. Clinical study and review of the literature.

Published in:

Romanian Neurosurgery, 2015, v. 22, n. 1, p. 69, doi. 10.1515/romneu-2015-0008

By:

Ciubotaru, Vasile;
Solomon, Adriana Elena;
Tataranu, Ligia;
Gorgan, Mircea Radu

Publication type:

Article

Efficacy of combined orbital radiation and systemic steroids in the management of Graves' orbitopathy.

Published in:

Graefe's Archive of Clinical & Experimental Ophthalmology, 2016, v. 254, n. 5, p. 991, doi. 10.1007/s00417-016-3280-7

By:

Kim, Ji;
Han, Sun;
Son, Byeong;
Rim, Tyler;
Keum, Ki;
Yoon, Jin

Publication type:

Article

Blepharochalasis.

Published in:

2019

By:

MACHADO, Álvaro;
MACHADO, Susana;
SELORES, Manuela

Publication type:

Case Study

The Phenotypic Range of Mitochondrial Myopathies and Disorders is More Diverse Than Expected.

Published in:

Annals of Indian Academy of Neurology, 2024, v. 27, n. 4, p. 452, doi. 10.4103/aian.aian_76_24

By:

Finsterer, Josef

Publication type:

Article

Vocal cord palsy in a case of chronic progressive external ophthalmoplegia.

Published in:

2015

By:

Ramakrishnan, Subasree;
Yadav, Ravi;
Adwani, Sikander;
Mustare, Veerendrakumar;
Kulkarni, Girish B.;
Narayanappa, Gayathri;
Periyasamy, Govindaraj;
Kumarasamy, Thangaraj

Publication type:

Letter to the Editor

Efficacy of brow suspension with autogenous fascia lata in simple congenital ptosis.

Published in:

Pakistan Journal of Medical Sciences, 2017, v. 33, n. 2, p. 434, doi. 10.12669/pjms.332.11521

By:

Ali, Farhan;
Khan, Muhammad Saim;
Sharjeel, Muhammad;
Din, Zaheer Ud;
Murtaza, Bilal;
Khan, Asfandyar

Publication type:

Article

Goldenhar syndrome with blepharophimosis and limb deformities: a case report.

Published in:

2018

By:

Ding, Xia;
Wang, Xi;
Cao, Yuan;
Zhang, Jiaying;
Lin, Ming;
Fan, Xianqun;
Li, Jin

Publication type:

journal article

Extra-ocular muscle MRI in genetically-defined mitochondrial disease.

Published in:

2016

By:

Pitceathly, Robert;
Morrow, Jasper;
Sinclair, Christopher;
Woodward, Cathy;
Sweeney, Mary;
Rahman, Shamima;
Plant, Gordon;
Ali, Nadeem;
Bremner, Fion;
Davagnanam, Indran;
Yousry, Tarek;
Hanna, Michael;
Thornton, John;
Pitceathly, Robert D S;
Morrow, Jasper M;
Sinclair, Christopher D J;
Sweeney, Mary G;
Plant, Gordon T;
Yousry, Tarek A;
Hanna, Michael G

Publication type:

journal article

Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance?

Published in:

2015

By:

Da Pozzo, Paola;
Rubegni, Anna;
Rufa, Alessandra;
Cardaioli, Elena;
Taglia, Ilaria;
Gallus, Gian;
Malandrini, Alessandro;
Federico, Antonio

Publication type:

Letter

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

The Phenotypic Spectrum of Progressive External Ophthalmoplegia Plus is Broader than Anticipated.

Published in:

2021

By:

Finsterer, Josef

Publication type:

Letter

Tear film break-up patterns in thyroid eye disease.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-84661-4

By:

Takahashi, Yasuhiro;
Lee, Patricia Ann L.;
Vaidya, Aric;
Kono, Shinjiro;
Kakizaki, Hirohiko

Publication type:

Article

False positive acetylcholine receptor antibodies in a case of unilateral chronic progressive external ophthalmoplegia: case report and review of literature.

Published in:

2018

By:

Rajput, Rehan;
Sachdev, Amun;
Din, Nizar;
Damato, Erika Marie;
Murray, Aidan

Publication type:

Case Study

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

Novel use of non-echo-planar diffusion weighted MRI in monitoring disease activity and treatment response in active Grave’s orbitopathy: An initial observational cohort study.

Published in:

Orbit, 2018, v. 37, n. 5, p. 325, doi. 10.1080/01676830.2017.1423343

By:

Lingam, Ravi Kumar;
Mundada, Pravin;
Lee, Vickie

Publication type:

Article

Aetiology of acquired blepharoptosis in young adults.

Published in:

Orbit, 2018, v. 37, n. 1, p. 59, doi. 10.1080/01676830.2017.1366528

By:

Rasiah, Sulakshan;
Hardy, Thomas G.;
Elder, James E.;
Ng, Cheng Y.;
Lenake, Mpopi;
McNab, Alan A.

Publication type:

Article

Multiple sclerosis and chronic progressive external ophthalmoplegia associated with a large scale mitochondrial DNA single deletion.

Published in:

2016

By:

Gaetani, Lorenzo;
Mignarri, Andrea;
Di Gregorio, Maria;
Sarchielli, Paola;
Malandrini, Alessandro;
Cardaioli, Elena;
Calabresi, Paolo;
Dotti, Maria;
Di Filippo, Massimiliano

Publication type:

Letter

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

Surgical Technique for Pulled in Two Syndrome: Three Cases With Chronic Progressive External Ophthalmoplegia.

Published in:

Journal of Pediatric Ophthalmology & Strabismus, 2017, v. 54, n. 6, p. e83, doi. 10.3928/01913913-20171017-01

By:

Jones, Alexander Matthew;
Starte, Julia;
Dunn, Hamish;
Ahmad, Kate;
Tan, Kimberley

Publication type:

Article

CHRONIC PROGRESSIVE EXTERNAL OPHTALMOPLEGIA (CPEO) – CASE PRESENTATION.

Published in:

2014

By:

Sirbu, Carmen-Adella;
Sirbu, Octavian-Mihai;
Sandu, Anca-Maria

Publication type:

Case Study

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

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

Residual muscle cytochrome c oxidase activity accounts for submaximal exercise lactate threshold in chronic progressive external ophthalmoplegia.

Published in:

1996

By:

Siciliano, Gabriele;
Rossi, Bruno;
Manca, Laura;
Angelini, Corrado;
Tessa, Alessandra;
Vergani, Lodovica;
Martinuzzi, Andrea;
Muratorio, Alberto;
Siciliano, G;
Rossi, B;
Manca, L;
Angelini, C;
Tessa, A;
Vergani, L;
Martinuzzi, A;
Muratorio, A

Publication type:

journal article

Localization and amount of myoglobin and myoglobin mRNA in ragged-red fiber of patients with mitochondrial encephalomyopathy.

Published in:

1996

By:

Kunishige, Makoto;
Mitsui, Takao;
Akaike, Masashi;
Shono, Masayuki;
Kawai, Hisaomi;
Saito, Shiro;
Kunishige, M;
Mitsui, T;
Akaike, M;
Shono, M;
Kawai, H;
Saito, S

Publication type:

journal article

Progressive ptosis.

Published in:: Ocular Surgery News, 2022, v. 40, n. 16, p. 26
Publication type:: Article

Defects of Mitochondrial DNA Replication.

Published in:

Journal of Child Neurology, 2014, v. 29, n. 9, p. 1216, doi. 10.1177/0883073814537380

By:

Copeland, William C.

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

Tyrosine kinases inhibition by Imatinib slows progression in chronic anti-thy1 glomerulosclerosis of the rat.

Published in:

BMC Nephrology, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2369-14-223

By:

Yingrui Wang-Rosenke;
Dymtro Khadzhynov;
Tanja Loof;
Alice Mika;
Hiroshi Kawachi;
Hans-H Neumayer;
Harm Peters

Publication type:

Article

Single mitochondrial DNA deletions in chronic progressive external ophthalmoplegia (CPEO) and Kearns-Sayre syndrome (KSS) patients from a multiethnic Asian population.

Published in:

Neurology Asia, 2014, v. 19, n. 1, p. 27

By:

Jia-Woei Chong;
Annuar, Azlina Ahmad;
Kum-Thong Wong;
Meow-Keong Thong;
Khean-Jin Goh

Publication type:

Article

Successful Conservative Management of a Case of Traumatic Superior Orbital Fissure Syndrome.

Published in:

Indian Journal of Neurotrauma, 2016, v. 13, n. 1, p. 31, doi. 10.1055/s-0036-1572517

By:

Shanker, Varshini;
Nigam, Vishal;
Misra, Neha

Publication type:

Article

Subclinical reduction in left ventricular function using triplane and 2D speckle tracking echocardiography after anthracycline exposure in children.

Published in:

Anatolian Journal of Cardiology / Anadolu Kardiyoloji Dergisi, 2018, v. 19, n. 1, p. 58, doi. 10.14744/AnatolJCardiol.2017.7944

By:

Çilsal, Erman;
Oğuz, Ayşe Deniz;
Tunaoğlu, Fatma Sedef;
Kula, Serdar;
Pektaş, Ayhan

Publication type:

Article

Association of Fibroblast Growth Factor (Fgf-21) as a Screening Biomarker for Chronic Progressive External Ophthalmoplesia.

Published in:

Tropical Journal of Pharmaceutical Research, 2014, v. 13, n. 3, p. 377, doi. 10.4314/tjpr.v13i3.10

By:

Dehkordi, Farnaz Farzaneh;
Houshmand, Massoud;
Sadeghizadeh, Majid;
Kashkouli, Mohsen Bahmani;
Javadi, Gholamreza

Publication type:

Article

Correction of upper eyelid entropion: Modified techniques are most welcome.

Published in:

2018

By:

Mahesh, Lakshmi

Publication type:

journal article

Upper eyelid levator-recession and anterior lamella repositioning through the grey-line: Avoiding a skin-crease incision.

Published in:

2018

By:

Pandey, Nidhi;
Jayaprakasam, Anuradha;
Feldman, Ilan;
Malhotra, Raman

Publication type:

journal article

Is the variant m.9176T > C in MT‐ATP6 truly responsibly for Leigh syndrome?

Published in:

2020

By:

Finsterer, Josef

Publication type:

Letter to the Editor

Validation of ICHD-3 beta diagnostic criteria for 13.7 Tolosa-Hunt syndrome: Analysis of 77 cases of painful ophthalmoplegia.

Published in:

2014

By:

Zhang, Xingwen;
Zhou, Zhibing;
Steiner, Timothy J;
Zhang, Wei;
Liu, Ruozhuo;
Dong, Zhao;
Wang, Xiaolin;
Wang, Rongfei;
Yu, Shengyuan

Publication type:

journal article

RE: “Unilateral Ptosis and Homolateral Hemifacial Weakness in Chronic Progressive External Ophthalmoplegia”.

Published in:

Neuro-Ophthalmology, 2017, v. 41, n. 3, p. 167, doi. 10.1080/01658107.2017.1294188

By:

Yen, Michael T.;
Murdock, Jennifer;
Thyparampil, Preeti J.

Publication type:

Article

Unilateral Ptosis and Homolateral Hemifacial Weakness in Chronic Progressive External Ophthalmoplegia.

Published in:

2017

By:

Finsterer, Josef;
Zarrouk-Mahjoub, Sinda

Publication type:

Letter to the Editor

Anti-aquaporin-4 antibody-positive dorsal midbrain syndrome.

Published in:

2015

By:

Lee, Juyoun;
Jeong, Seong-Hae;
Park, Sang Min;
Sohn, Eun Hee;
Lee, Ae Young;
Kim, Jae-Moon;
Jo, Hyun-Jin;
Lee, Yeon-Hee;
Kim, Ji-Soo

Publication type:

Case Study

Methyllycaconitine Alleviates Amyloid-β Peptides-Induced Cytotoxicity in SH-SY5Y Cells.

Published in:

PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0111536

By:

Zheng, XiaoLei;
Xie, ZhaoHong;
Zhu, ZhengYu;
Liu, Zhen;
Wang, Yun;
Wei, LiFei;
Yang, Hui;
Yang, HongNa;
Liu, YiQing;
Bi, JianZhong

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