Works matching DE "KEARNS-Sayre syndrome"

Results: 49

Psychiatric Morbidities in Kearns Sayre Syndrome.

Published in:

2021

By:

Arun, Priti;
Kaur, Ramandeep

Publication type:

Letter

Prophylactic pacemaker placement at first signs of conduction disease in Kearns-Sayre syndrome.

Published in:

2018

By:

Trivedi, Mira;
Goldstein, Amy;
Arora, Gaurav

Publication type:

journal 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

A rare case of Kearns-Sayre syndrome in a 17-year-old Venezuelan male with bilateral ptosis as the initial presentation.

Published in:

2016

By:

Leal, Mayela;
Dhoble, Chetan;
Lee, Julie;
Lopez, Deinymar;
Menéndez, Laura Simonne

Publication type:

Case Study

Hypoparathyroidism as the First Mani-Festation of Kearns-Sayre Syndrome: A Case Report.

Published in:

Iranian Journal of Neonatology, 2014, v. 5, n. 3, p. 2

By:

Farah, Ashrafzadeh;
Nosrat, Ghaemi;
Javad, Akhondian;
Mehran, Beiraghi Toosi;
Saghi, Elmi

Publication type:

Article

Zespół Kearnsa i Sayre'a ze zdekompensowaną niewydolnością serca.

Published in:

Polish Heart Journal / Kardiologia Polska, 2024, v. 82, p. 240

By:

Krupka, Dominik;
Rakoczy, Katarzyna;
Chełmoński, Adam;
Zakliczyński, Michał Wojciech;
Przybylski, Roman;
Sokolski, Mateusz

Publication type:

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

Mitochondrial ataxia - Unravelling the puzzle.

Published in:

Annals of Movement Disorders, 2024, v. 7, n. 2, p. 78, doi. 10.4103/aomd.aomd_63_24

By:

Pandita, Neha;
Ganguly, Jacky;
Kumar, Hrishikesh

Publication type:

Article

Mitochondrial DNA deletions detected by Multiplex Ligation-dependent Probe Amplification.

Published in:

Mitochondrial DNA. Part A, 2016, v. 27, n. 4, p. 2864, doi. 10.3109/19401736.2015.1053132

By:

Mayorga, Lía;
Laurito, Sergio R.;
Loos, Mariana A.;
Eiroa, Hernán D.;
de Pinho, Silvina;
Lubieniecki, Fabiana;
Arroyo, Hugo A.;
Pereyra, Marcela F.;
Kauffman, Marcelo A.;
Roqué, María

Publication type:

Article

Scleral contact lenses for the management of complicated ptosis.

Published in:

Orbit, 2018, v. 37, n. 3, p. 201, doi. 10.1080/01676830.2017.1383475

By:

Katsoulos, Konstantinos;
Rallatos, Gerasimos Livir;
Mavrikakis, Ioannis

Publication type:

Article

Disease progression in patients with single, large-scale mitochondrial DNA deletions.

Published in:

Brain: A Journal of Neurology, 2014, v. 137, n. 2, p. 323, doi. 10.1093/brain/awt321

By:

Grady, John P.;
Campbell, Georgia;
Ratnaike, Thiloka;
Blakely, Emma L.;
Falkous, Gavin;
Nesbitt, Victoria;
Schaefer, Andrew M.;
McNally, Richard J.;
Gorman, Grainne S.;
Taylor, Robert W.;
Turnbull, Doug M.;
McFarland, Robert

Publication type:

Article

Adrenal involvement in mitochondrial DNA deletion disorders is highly dependent on comorbidities and pituitary function.

Published in:

2023

By:

Finsterer, Josef

Publication type:

Letter to the Editor

Ophthalmoplegia in Mitochondrial Disease.

Published in:

Yonsei Medical Journal, 2018, v. 59, n. 10, p. 1190, doi. 10.3349/ymj.2018.59.10.1190

By:

Sang-Jun Lee;
Ji-Hoon Na;
Jinu Han;
Young-Mock Lee

Publication type:

Article

Kearns-Sayre syndrome in the absence of a mt DNA deletion?

Published in:

Andrologia, 2017, v. 49, n. 10, p. n/a, doi. 10.1111/and.12810

By:

Finsterer, J.;
Zarrouk‐Mahjoub, S.

Publication type:

Article

A case of hypopituitarism accompanying Kearns-Sayre syndrome treated with human chorionic gonadotropin: A case report and literature review.

Published in:

Andrologia, 2017, v. 49, n. 8, p. n/a, doi. 10.1111/and.12711

By:

Kang, Y.‐X.;
Wang, Y.‐J.;
Zhang, Q.;
Pang, X.‐H.;
Gu, W.

Publication type:

Article

Kearns--Sayre syndrome: a case series of 35 adults and children.

Published in:

2014

By:

Khambatta, Sherezade;
Nguyen, Douglas L.;
Beckman, Thomas J.;
Wittich, Christopher M.

Publication type:

Case Study

Kearns-Sayre Syndrome.

Published in:: Iranian Journal of Child Neurology, 2013, v. 7, n. 4, p. 22
Publication type:: Article

Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 551, doi. 10.1186/s13023-014-0217-2

By:

Quijada-Fraile, Pilar;
O?Callaghan, MMar;
Mart?n-Hern?ndez, Elena;
Montero, Raquel;
Garcia-Cazorla, ?ngels;
Mart?nez de Arag?n, Ana;
Muchart, Jordi;
M?laga, Ignacio;
Pardo, Rafael;
Garc?a-Gonzalez, Pedro;
Jou, Cristina;
Montoya, Julio;
Emperador, Sonia;
Ruiz-Pesini, Eduardo;
Arenas, Joaqu?n;
Martin, Miguel Angel;
Ormazabal, Aida;
Pineda, Merc?;
Garc?a-Silva, Mar?a T.;
Artuch, Rafael

Publication type:

Article

Treatment of Eyelid Ptosis due to Kearns-Sayre Syndrome Using Frontalis Suspension.

Published in:

2015

By:

Weitgasser, Laurenz;
Wechselberger, Gottfried;
Ensat, Florian;
Kaplan, Rene;
Hladik, Michaela

Publication type:

Case Study

Anesthetic management of a parturient with Kearns-Sayre syndrome, dual-chamber and VVI implantable defibrillator pacemaker/defibrillator, and preeclampsia for cesarean delivery: A case report and review of the literature.

Published in:

Saudi Journal of Anaesthesia, 2018, v. 12, n. 1, p. 134, doi. 10.4103/sja.SJA_630_17

By:

Al Ghamdi, Abdulmohsen

Publication type:

Article

The Prevalence and Associations of Peripheral Retinopathy: Baseline Study of Guangzhou Office Computer Workers.

Published in:

Journal of Ophthalmology, 2018, p. 1, doi. 10.1155/2018/2358690

By:

Zhang, Ting;
Zuo, Yajing;
Wei, Yantao;
Huang, Wenbin;
Zhou, Xuezhi;
Liu, Rongjiao;
Zhong, Lili;
Peng, Manjuan;
Zhang, Shaochong

Publication type:

Article

Endocrine Disorders in Children with Primary Mitochondrial Diseases: Single Center Experience.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2025, v. 17, n. 1, p. 34, doi. 10.4274/jcrpe.galenos.2024.2024-1-11

By:

Papatya Çakır, Esra Deniz;
Ersoy, Melike;
Biçer, Nihan Çakır;
Gedikbaşı, Asuman

Publication type:

Article

Rare health conditions 25: Bardet-Biedl syndrome, Kearns-Sayre syndrome, De Clérambault’s syndrome.

Published in:

British Journal of Healthcare Assistants, 2019, v. 13, n. 7, p. 340, doi. 10.12968/bjha.2019.13.7.340

By:

Barber, Chris

Publication type:

Article

Administration of bicarbonates through percutaneous gastrostomy with continuous nocturnal infusion in a patient with Kearns-Sayre disease: a life changing therapeutical paradigm.

Published in:

Italian Journal of Pediatrics, 2024, v. 50, n. 1, p. 1, doi. 10.1186/s13052-024-01696-9

By:

Traunero, Arianna;
Baldo, Francesco;
Magnolato, Andrea;
Di Leo, Grazia;
Barbi, Egidio;
Bruno, Irene

Publication type:

Article

SOME MITOCHONDRIAL GENES VARIATIONS IN KEARNS–SAYRE SYNDROME : A CASE REPORT STUDY.

Published in:

Biochemical & Cellular Archives, 2021, v. 21, n. 2, p. 4447

By:

Al-Terehi, Mona N.;
Jawad, Mohammed Abed;
Alkadir, Ola Kamal A.;
Alshok, Monem Makki;
Al-Saadi, Ali H.

Publication type:

Article

A case of chronic kidney disease with pulmonary hypertension, hyperuricemia, immunodeficiency and other extrarenal findings: Answers.

Published in:

2022

By:

Göknar, Nilüfer;
Keleşoğlu, Emre;
Kasap, Nurhan;
Üçkardeş, Diana;
Candan, Cengiz

Publication type:

Question & Answer

Mitochondrial DNA mutations in renal disease: an overview.

Published in:

Pediatric Nephrology, 2021, v. 36, n. 1, p. 9, doi. 10.1007/s00467-019-04404-6

By:

Govers, Larissa P.;
Toka, Hakan R.;
Hariri, Ali;
Walsh, Stephen B.;
Bockenhauer, Detlef

Publication type:

Article

A 7-year-old girl presenting with a Bartter-like phenotype: Questions.

Published in:

Pediatric Nephrology, 2017, v. 32, n. 6, p. 981, doi. 10.1007/s00467-016-3473-7

By:

Choe, Yunsoo;
Park, Eujin;
Hyun, Hye;
Ko, Jung;
Kang, Hee;
Kim, Jeong;
Park, Sung-Hye;
Cheong, Hae

Publication type:

Article

A 7-year-old girl presenting with a Bartter-like phenotype: Answers.

Published in:

Pediatric Nephrology, 2017, v. 32, n. 6, p. 983, doi. 10.1007/s00467-016-3480-8

By:

Choe, Yunsoo;
Park, Eujin;
Hyun, Hye;
Ko, Jung;
Kang, Hee;
Kim, Jeong;
Park, Sung-Hye;
Cheong, Hae

Publication type:

Article

Obstetric anesthesia considerations in Kearns-Sayre syndrome -a case report-.

Published in:

2014

By:

Faris, Ali S.;
Tawfic, Qutaiba A.;
Jeyaraj, Leo

Publication type:

Case Study

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

Ventricular arrhythmias in Kearns–Sayre syndrome: A cohort study using the National Inpatient Sample database 2016–2019.

Published in:

Pacing & Clinical Electrophysiology, 2022, v. 45, n. 12, p. 1357, doi. 10.1111/pace.14607

By:

Wiseman, Kyle;
Gor, Dhairya;
Udongwo, Ndausung;
Alshami, Abbas;
Upadhaya, Vandan;
Daniels, Steven J.;
Chung, Wendy K.;
Koo, Charles H.

Publication type:

Article

Prevention of sudden death in Kearns‐Sayre syndrome requires prospective studies.

Published in:

2022

By:

Finsterer, Josef;
Mehri, Sounira

Publication type:

Letter to the Editor

New gout test: enhanced ex vivo cytokine production from PBMCS in common gout patients and a gout patient with Kearns-Sayre syndrome.

Published in:

Clinical Rheumatology, 2014, v. 33, n. 9, p. 1341, doi. 10.1007/s10067-014-2620-4

By:

Jansen, Tim;
Berendsen, Dianne;
Crisan, Tania;
Cleophas, Maartje;
Janssen, Mirian;
Joosten, Leo

Publication type:

Article

Inherited disorders, metabolic disorders, rare diseases.

Published in:: Clinical Chemistry & Laboratory Medicine, 2015, v. 53, p. s580, doi. 10.1515/cclm-2015-5017
Publication type:: Article

Progressive ptosis.

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

Lady in red: A case of Kearns-Sayre syndrome supported by histopathology.

Published in:

2022

By:

Godani, Kanika;
Das, Dipankar;
Bhattacharjee, Kasturi;
Bhattacharjee, Harsha;
Raichura, Riddhi

Publication type:

journal article

Sporadic chronic progressive external ophthalmoplegia with single large mitochondrial DNA deletion and neurogenic findings.

Published in:

2017

By:

Ruggiero, Lucia;
Fiorillo, Chiara;
Nesti, Claudia;
Manganelli, Fiore;
Iodice, Rosa;
Esposito, Marcello;
Santorelli, Filippo;
Santoro, Lucio

Publication type:

Letter

Redefining phenotypes associated with mitochondrial DNA single deletion.

Published in:

Journal of Neurology, 2015, v. 262, n. 5, p. 1301, doi. 10.1007/s00415-015-7710-y

By:

Mancuso, Michelangelo;
Orsucci, Daniele;
Angelini, Corrado;
Bertini, Enrico;
Carelli, Valerio;
Comi, Giacomo;
Donati, Maria;
Federico, Antonio;
Minetti, Carlo;
Moggio, Maurizio;
Mongini, Tiziana;
Santorelli, Filippo;
Servidei, Serenella;
Tonin, Paola;
Toscano, Antonio;
Bruno, Claudio;
Bello, Luca;
Caldarazzo Ienco, Elena;
Cardaioli, Elena;
Catteruccia, Michela

Publication type:

Article

Reply to: "Is the spinal cord truly affected in half of the patients with Kearns-Sayre syndrome?" and "Spinal cord and heart involvement in Kearns Sayre Syndrome: which link?".

Published in:

2021

By:

Pasquini, Luca;
Guarnera, Alessia;
Rossi-Espagnet, Maria Camilla;
Napolitano, Antonio;
Diodato, Daria;
Martinelli, Diego;
Longo, Daniela

Publication type:

Letter

Spinal cord and heart involvement in Kearns-Sayre syndrome: which link?

Published in:

2021

By:

Di Nora, Concetta;
Nalli, Chiara;
Vendramin, Igor;
Livi, Ugolino

Publication type:

Letter

Correction to: Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study.

Published in:

2020

By:

Pasquini, Luca;
Guarnera, Alessia;
Rossi-Espagnet, Maria Camilla;
Napolitano, Antonio;
Martinelli, Diego;
Deodato, Federica;
Diodato, Daria;
Carrozzo, Rosalba;
Dionisi-Vici, Carlo;
Longo, Daniela

Publication type:

Correction Notice

Is the spinal cord truly affected in half of the patients with Kearns-Sayre syndrome?

Published in:

2020

By:

Finsterer, Josef

Publication type:

Letter

Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study.

Published in:

Neuroradiology, 2020, v. 62, n. 10, p. 1315, doi. 10.1007/s00234-020-02501-0

By:

Luca, Pasquini;
Alessia, Guarnera;
Camilla, Rossi-Espagnet Maria;
Antonio, Napolitano;
Diego, Martinelli;
Federica, Deodato;
Daria, Diodato;
Rosalba, Carrozzo;
Carlo, Dionisi-Vici;
Daniela, Longo

Publication type:

Article

Reply to: Viability of diffusion tensor imaging for assessing retrochiasmatic involvement in Kearns-Sayre syndrome remains elusive.

Published in:

2020

By:

Rossi-Espagnet, Maria Camilla;
Pro, Stefano;
Martinelli, Diego;
Diodato, Daria;
Napolitano, Antonio;
Longo, Daniela

Publication type:

Letter

Viability of diffusion tensor imaging for assessing retro-chiasmatic involvement in Kearns-Sayre syndrome remains elusive.

Published in:

2020

By:

Finsterer, Josef

Publication type:

Letter

Visual pathways evaluation in Kearns Sayre syndrome: a diffusion tensor imaging study.

Published in:

Neuroradiology, 2020, v. 62, n. 2, p. 241, doi. 10.1007/s00234-019-02302-0

By:

Rossi-Espagnet, Maria Camilla;
Lucignani, Martina;
Pasquini, Luca;
Napolitano, Antonio;
Pro, Stefano;
Romano, Andrea;
Diodato, Daria;
Martinelli, Diego;
Longo, Daniela

Publication type:

Article

Kearns Sayre Syndrome: A Rare Cause of Mitochondrial Diabetes and Hypogonadotropic Hypogonadism.

Published in:

2024

By:

Mudraje, Sriram;
Khare, Jaideep;
Garg, Nancy;
Jindal, Sushil

Publication type:

Case Study

Neuropathology of Partial PGC-1α Deficiency Recapitulates Features of Mitochondrial Encephalopathies but Not of Neurodegenerative Diseases.

Published in:

Neurodegenerative Diseases, 2013, v. 12, n. 4, p. 177, doi. 10.1159/000346267

By:

Szalardy, Levente;
Zadori, Denes;
Plangar, Imola;
Vecsei, Laszlo;
Weydt, Patrick;
Ludolph, albert C.;
Klivenyi, Peter;
Kovacs, Gabor G.

Publication type:

Article