Works matching MELAS syndrome

Results: 859

Autopsied case with MERRF/MELAS overlap syndrome accompanied by stroke‐like episodes localized to the precentral gyrus.

Published in:

Neuropathology, 2019, v. 39, n. 3, p. 212, doi. 10.1111/neup.12551

By:

Miyahara, Hiroaki;
Matsumoto, Shinjiro;
Mokuno, Kenji;
Dei, Rika;
Akagi, Akio;
Mimuro, Maya;
Iwasaki, Yasushi;
Yoshida, Mari

Publication type:

Article

Mitochondrial gene heterogeneity related to MELAS syndrome: A review of literature.

Published in:

Journal of Practical Medicine / Shiyong Yixue Zazhi, 2024, v. 40, n. 13, p. 1885, doi. 10.3969/j.issn.1006-5725.2024.13.021

By:

WEN Limin;
LI Ran;
HAO Yanlei;
KONG Qingxia;
XIA Min

Publication type:

Article

Síndrome MELAS en pediatría. Reporte de caso.

Published in:

Revista Facultad de Medicina de la Universidad Nacional de Colombia, 2020, v. 68, n. 2, p. 316, doi. 10.15446/revfacmed.v68n2.71926

By:

López-Pérez, Juan José;
Galán-Gutiérrez, Gloria Mercedes;
Luna-Luna, Manuel Alejandro;
Lancheros-Delgadillo, Diocel Orlando

Publication type:

Article

Cardiomyopathy associated with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome.

Published in:

QJM: An International Journal of Medicine, 2019, v. 112, n. 3, p. 213, doi. 10.1093/qjmed/hcy290

By:

Song, S -K;
Lee, S H

Publication type:

Article

Adult-onset MELAS syndrome in a 51-year-old woman without typical clinical manifestations: a case report.

Published in:

European Heart Journal Case Reports, 2023, v. 7, n. 1, p. 1, doi. 10.1093/ehjcr/ytad028

By:

Lee, Sang-Hyup;
Lee, Chan Joo;
Won, Dongju;
Kang, Seok-Min

Publication type:

Article

Molecular and neurological features of MELAS syndrome in paediatric patients: A case series and review of the literature.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 7, p. 1, doi. 10.1002/mgg3.1955

By:

Seed, Lydia M.;
Dean, Andrew;
Krishnakumar, Deepa;
Phyu, Poe;
Horvath, Rita;
Harijan, Pooja Devi

Publication type:

Article

New Variant of MELAS Syndrome With Executive Dysfunction, Heteroplasmic Point Mutation in the MT-ND4 Gene (m.12015T>C; p.Leu419Pro) and Comorbid Polyglandular Autoimmune Syndrome Type 2.

Published in:

Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.00412

By:

Endres, Dominique;
Süß, Patrick;
Maier, Simon J.;
Friedel, Evelyn;
Nickel, Kathrin;
Ziegler, Christiane;
Fiebich, Bernd L.;
Glocker, Franz X.;
Stock, Friedrich;
Egger, Karl;
Lange, Thomas;
Dacko, Michael;
Venhoff, Nils;
Erny, Daniel;
Doostkam, Soroush;
Komlosi, Katalin;
Domschke, Katharina;
Tebartz van Elst, Ludger

Publication type:

Article

Dexmedetomidine as a non-triggering anesthetic agent in a patient with MELAS syndrome and systemic sepsis - A case report.

Published in:

2019

By:

Sang Hun Kim;
Su Yeong Park;
Ki Tae Jung

Publication type:

Case Study

MELAS/LS Overlap Syndrome Associated With Mitochondrial DNA Mutations: Clinical, Genetic, and Radiological Studies.

Published in:

Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2021.648740

By:

Wei, Yanping;
Huang, Yan;
Yang, Yingmai;
Qian, Min

Publication type:

Article

A rare case of MELAS syndrome caused by mitochondrial DNA m.3256C>T mutation in China.

Published in:

World Journal of Emergency Medicine, 2025, v. 16, n. 2, p. 180, doi. 10.5847/wjem.j.1920-8642.2025.030

By:

Xiangxin Zheng;
Man Huang

Publication type:

Article

Late-onset MELAS syndrome with mtDNA 14453G→A mutation masquerading as an acute encephalitis: a case report.

Published in:

2020

By:

Yokota, Yuki;
Hara, Makoto;
Akimoto, Takayoshi;
Mizoguchi, Tomotaka;
Goto, Yu-ichi;
Nishino, Ichizo;
Kamei, Satoshi;
Nakajima, Hideto

Publication type:

journal article

Elevated glutamate and decreased glutamine levels in the cerebrospinal fluid of patients with MELAS syndrome.

Published in:

Journal of Neurology, 2022, v. 269, n. 6, p. 3238, doi. 10.1007/s00415-021-10942-7

By:

Guerrero-Molina, María Paz;
Morales-Conejo, Montserrat;
Delmiro, Aitor;
Morán, María;
Domínguez-González, Cristina;
Arranz-Canales, Elena;
Ramos-González, Ana;
Arenas, Joaquín;
Martín, Miguel A.;
González de la Aleja, Jesús

Publication type:

Article

Young onset mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome: a case report.

Published in:

Critical Care Innovations, 2024, v. 7, n. 4, p. 43, doi. 10.32114/CCI.2024.7.4.43.48

By:

Goel, Kartik;
Singh, Divyanshu;
Bhargav, Ravi;
Kansagara, Harsh;
Kumar, Shailesh;
Yadav, Rupesh

Publication type:

Article

Mitochondrial diabetes and mitochondrial DNA mutation load in MELAS syndrome.

Published in:

European Journal of Endocrinology, 2020, v. 183, n. 5, p. 505, doi. 10.1530/EJE-20-0189

By:

Hyun-Wook Chae;
Ji-Hoon Na;
Ho-Seong Kim;
Young-Mock Lee

Publication type:

Article

Use of remimazolam as an adjunct to general anesthesia for an adolescent with MELAS syndrome.

Published in:

Pediatric Anesthesia & Critical Care Journal (PACCJ), 2022, v. 10, n. 2, p. 49, doi. 10.14587/paccj.2022.8

By:

Gyurgyik, N.;
Warren, J.;
Miketic, R.;
Tobias, J. D.

Publication type:

Article

Temporal bone histopathology in MELAS syndrome.

Published in:

Laryngoscope Investigative Otolaryngology, 2020, v. 5, n. 1, p. 152, doi. 10.1002/lio2.344

By:

Handzel, Ophir;
Ungar, Omer J.;
Lee, Dan J.;
Nadol, Joseph B.

Publication type:

Article

Fahr's syndrome as the initial imaging characteristics of MELAS syndrome with a possible seizure activity and cardiac arrest: a case report.

Published in:

Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1393158

By:

Yan Zheng;
Haohao Wu;
Meng Zhang;
Baogang Huang;
Junsu Yang;
Chuan Liu;
Hanmin Wang;
Kang Du

Publication type:

Article

Case report: MELAS and concomitant presumed antiphospholipid antibody syndrome in an adult woman.

Published in:

2022

By:

Nouduri, Sirisha;
Padmanabhan, Rajiv;
Hicks, Richard;
Abbott, Mary-Alice;
O’Brien, Dennis;
Schlaug, Gottfried

Publication type:

Case Study

The variant m.3482A>G in MT‐ND1 is benign and not responsible for MELAS/Leigh overlap syndrome.

Published in:

Neuropathology, 2021, v. 41, n. 3, p. 250, doi. 10.1111/neup.12726

By:

Finsterer, Josef

Publication type:

Article

Mitochondrial tRNA<sup>His</sup> mutation (m.12158A > G) associated with MELAS syndrome.

Published in:

Clinical Genetics, 2022, v. 101, n. 4, p. 474, doi. 10.1111/cge.14112

By:

Lee, Hyunjoo;
Na, Ji‐Hoon;
Lee, Young‐Mock

Publication type:

Article

Mitochondrial Disease (MELAS Syndrome) Discovered at the Start of Pregnancy in a Patient with Advanced CKD: A Clinical and Ethical Challenge.

Published in:

Journal of Clinical Medicine, 2019, p. 303, doi. 10.3390/jcm8030303

By:

Santoro, Domenico;
Di Bella, Gianluca;
Toscano, Antonio;
Musumeci, Olimpia;
Buemi, Michele;
Piccoli, Giorgina Barbara

Publication type:

Article

Uso terapeutico de la dieta en pacientes con síndrome de MELAS.

Published in:

Revista Nutrición Clínica y Dietética Hospitalaria, 2019, v. 39, n. 3, p. 37, doi. 10.12873/393gonzalez

By:

González Lara, Sheila;
Díaz Hernández, Rafae

Publication type:

Article

Psychiatric disturbances in a patient with melas syndrome: A case report.

Published in:

European Psychiatry, 2016, v. 33, p. S578, doi. 10.1016/j.eurpsy.2016.01.1699

By:

Rizza, M.C.;
Di Marco, S.;
Delicato, C.;
Vecchi, C.;
Gramaglia, C.;
Prosperini, P.;
Cantello, R.;
Zeppegno, P.

Publication type:

Article

Endocrine disorders in a patient with a suspicion of a mitochondrial disease, MELAS syndrome - a case report and literature review.

Published in:

2021

By:

Baszyńska-Wilk, Marta;
Moszczyńska, Elżbieta;
Szarras-Czapnik, Maria;
Wysocka-Mincewicz, Marta;
Wątrobińska, Urszula;
Kozłowska, Agata;
Szalecki, Mieczysław

Publication type:

Case Study

Unraveling an Unusual Phenocopy of Hypertrophic Cardiomyopathy: MELAS Syndrome.

Published in:

Diagnostics (2075-4418), 2021, v. 11, n. 2, p. 295, doi. 10.3390/diagnostics11020295

By:

Reid, Anna B.;
Venetucci, Luigi;
Schmitt, Matthias;
Nucifora, Gaetano;
Kjaer, Andreas

Publication type:

Article

Cardiac manifestations in adult MELAS syndrome (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome)– a cross-sectional study.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03534-5

By:

Stoevesandt, Dietrich;
Schlitt, Axel;
Röntgen, Philipp;
Kraya, Torsten

Publication type:

Article

Neuraxial anesthesia for extended endoscopic urological procedure in a patient with MELAS syndrome: a case report.

Published in:

Anaesthesia, Pain & Intensive Care, 2022, v. 26, n. 3, p. 419, doi. 10.35975/apic.v26i3.1754

By:

Ababneh, Muaweih;
Al-Shehab, Refaat;
Suleiman, Aiman

Publication type:

Article

Mitochondrial DNA 3252A>G mutation presenting as MERRF/MELAS overlapping syndrome: A case report.

Published in:

Neurology Asia, 2023, v. 28, n. 4, p. 1073, doi. 10.54029/2023tzs

By:

Yin Yin Tan;
Ting Yoong Tee;
Farn Ye Chew;
Huey Tean Kok;
Abd Rani, Nor Haizura binti;
Lock Hock Ngu;
Viswanathan, Shanthi

Publication type:

Article

Glutamate-Induced Deregulation of Krebs Cycle in Mitochondrial Encephalopathy Lactic Acidosis Syndrome Stroke-Like Episodes (MELAS) Syndrome Is Alleviated by Ketone Body Exposure.

Published in:

Biomedicines, 2022, v. 10, n. 7, p. N.PAG, doi. 10.3390/biomedicines10071665

By:

Belal, Sophie;
Goudenège, David;
Bocca, Cinzia;
Dumont, Florent;
Chao De La Barca, Juan Manuel;
Desquiret-Dumas, Valérie;
Gueguen, Naïg;
Geffroy, Guillaume;
Benyahia, Rayane;
Kane, Selma;
Khiati, Salim;
Bris, Céline;
Aranyi, Tamas;
Stockholm, Daniel;
Inisan, Aurore;
Renaud, Aurélie;
Barth, Magalie;
Simard, Gilles;
Reynier, Pascal;
Letournel, Franck

Publication type:

Article

MELAS Syndrome: Rare Early Presentation of a Known Stroke Mimic.

Published in:

Neurology India, 2024, v. 72, n. 3, p. 645, doi. 10.4103/neurol-india.Neurol-India-D-24-00065

By:

Mahesan, Aakash;
Kamila, Gautam;
Sundaram, Mohana;
Kumar, Atin;
Jauhari, Prashant;
Chakrabarty, Biswaroop;
Gulati, Sheffali

Publication type:

Article

Infraclavicular Catheter in MELAS Syndrome for Analgesic Purposes.

Published in:

Neurology India, 2023, v. 71, n. 4, p. 764, doi. 10.4103/0028-3886.383869

By:

Onay, M.;
Kiremitçi, T. Tanyel;
Kayhan, G. Erdoğan;
Algın, D. İlhan;
Güleç, M. S.

Publication type:

Article

MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging Approach.

Published in:

2016

By:

Seitun, Sara;
Massobrio, Laura;
Rubegni, Anna;
Nesti, Claudia;
Castiglione Morelli, Margherita;
Boccalini, Sara;
Galletto Pregliasco, Athena;
Budaj, Irilda;
Deferrari, Luca;
Rosa, Gian Marco;
Montecucco, Fabrizio;
Valbusa, Alberto

Publication type:

Case Study

A patient with MELAS syndrome combined with autoimmune abnormalities: a case report.

Published in:

Frontiers in Neurology, 2023, p. 01, doi. 10.3389/fneur.2023.1239664

By:

Mingmin Zhao;
Chun Zuo;
Hongyu Hao;
Xing Xing;
Lei Zhao;
Na Li

Publication type:

Article

<sup>18</sup>F-FDG PET/CT findings in a possible MELAS syndrome: A case study.

Published in:

Iranian Journal of Nuclear Medicine, 2019, v. 27, n. 1, p. 57

By:

Emami-Ardekani, Alireza;
Harsini, Sara;
Fard-Esfahani, Armaghan;
Baseri, Farzaneh;
Eftekhari, Mohammad

Publication type:

Article

Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.

Published in:

Journal of Neurology, 2021, v. 268, n. 6, p. 2192, doi. 10.1007/s00415-020-10390-9

By:

Chakrabarty, Sanjiban;
Govindaraj, Periyasamy;
Sankaran, Bindu Parayil;
Nagappa, Madhu;
Kabekkodu, Shama Prasada;
Jayaram, Pradyumna;
Mallya, Sandeep;
Deepha, Sekar;
Ponmalar, J. N. Jessiena;
Arivinda, Hanumanthapura R.;
Meena, Angamuthu Kanikannan;
Jha, Rajan Kumar;
Sinha, Sanjib;
Gayathri, Narayanappa;
Taly, Arun B.;
Thangaraj, Kumarasamy;
Satyamoorthy, Kapaettu

Publication type:

Article

Massive gastric dilatation associated with uncontrolled epilepsy in MELAS syndrome.

Published in:

Neurology & Clinical Neuroscience, 2022, v. 10, n. 6, p. 331, doi. 10.1111/ncn3.12671

By:

Cardosa‐Aguilar, Armando;
Martínez‐Bravo, Luis E.;
Garza‐Rivera, Juan de Dios;
Hidalgo‐Díaz, Diego A.

Publication type:

Article

Advances in the Treatment of MELAS Syndrome: Could Cognitive Rehabilitation Have a Role?

Published in:

2016

By:

De Luca, Rosaria;
Russo, Margherita;
Leonardi, Simona;
Spadaro, Letteria;
Cicero, Cettina;
Naro, Antonino;
Bramanti, Placido;
Calabrò, Rocco Salvatore

Publication type:

journal article

Case report: Late-onset MELAS syndrome with mtDNA 5783G>A mutation diagnosed by urinary sediment genetic testing.

Published in:

Frontiers in Genetics, 2024, p. 01, doi. 10.3389/fgene.2024.1367716

By:

Hao Cai;
Li-Min Li;
Miao Zhang;
Yuying Zhou;
Pan Li

Publication type:

Article

Case report: A double pathogenic mutation in a patient with late-onset MELAS/PEO overlap syndrome.

Published in:

Frontiers in Neurology, 2022, v. 16, p. 01, doi. 10.3389/fneur.2022.927823

By:

Qiu Yan Zhao;
Wen Zhao Zhang;
Xue Lian Zhu;
Fei Qiao;
Li Yuan Jia;
Bi Li;
Yong Xiao;
Han Chen;
Yu Zhang;
Yun Guo Chen;
Yong Liang Wang

Publication type:

Article

Arginine Supplementation in MELAS Syndrome: What Do We Know about the Mechanisms?

Published in:

International Journal of Molecular Sciences, 2024, v. 25, n. 7, p. 3629, doi. 10.3390/ijms25073629

By:

Barros, Camila D. S.;
Coutinho, Aryane;
Tengan, Celia H.

Publication type:

Article

Orofacial pain in a female patient with MELAS syndrome. A case report.

Published in:

2018

By:

Dalewski, Bartosz;
Ey-Chmielewska, Halina;
Kudlik, Małgorzata;
Frączak, Bogumiła

Publication type:

Case Study

Commentary: New Variant of MELAS Syndrome With Executive Dysfunction, Heteroplasmic Point Mutation in the MT-ND4 Gene (m.12015T>C; p.Leu419Pro) and Comorbid Polyglandular Autoimmune Syndrome Type 2.

Published in:

Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.01333

By:

Finsterer, Josef

Publication type:

Article

Delay in diagnosing a patient with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome who presented with status epilepticus and lactic acidosis: a case report.

Published in:

2022

By:

Alenezi, Ahmad F.;
Almelahi, Mariam A.;
Fekih-Romdhana, Feten;
Jahrami, Haitham A.

Publication type:

journal article

Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes-MELAS Syndrome.

Published in:

Ochsner Journal, 2017, v. 17, n. 3, p. 296

By:

Henry, Caitlin;
Patel, Neema;
Shaffer, William;
Murphy, Lillian;
Park, Joe;
Spieler, Bradley

Publication type:

Article

A rare cause of mixed hypertrophic and dilated phenotype cardiomyopathy – the MELAS syndrome.

Published in:

Romanian Journal of Cardiology, 2023, v. 33, n. 3, p. 118, doi. 10.2478/rjc-2023-0020

By:

Casian, Mihnea;
Dragotoiu, Nic;
Onciul, Sebastian;
Popescu, Bogdan A.;
Jurcuţ, Ruxandra

Publication type:

Article

Retinal dystrophy associated with a single-base deletion mutation in mitochondrial DNA 3271 in patient with MELAS syndrome.

Published in:

Documenta Ophthalmologica, 2019, v. 138, n. 2, p. 147, doi. 10.1007/s10633-019-09673-y

By:

Ozawa, Kenji;
Mochizuki, Kiyofumi;
Manabe, Yusuke;
Yoshikura, Nobuaki;
Shimohata, Takayoshi;
Nishino, Ichizo;
Goto, Yu-ichi

Publication type:

Article

Clinical presentation of a stroke-like episode in MELAS syndrome: what is the impact of epileptogenic activity?

Published in:

2021

By:

Bernardo, Pia;
Pandolfi, Maria;
Vedova, Paola;
Varone, Antonio;
Rubino, Alfonso

Publication type:

Letter

Psychiatric care for a person with MELAS syndrome: A case report.

Published in:

Clinical Case Reports, 2021, v. 9, n. 5, p. 1, doi. 10.1002/ccr3.4146

By:

Leong, Douglas Yeung;
Chee, Rei Yen;
Lui, Yit Shiang

Publication type:

Article

Audiological and Vestibular Findings in Subjects with MELAS Syndrome.

Published in:

Journal of International Advanced Otology, 2019, v. 15, n. 2, p. 296, doi. 10.5152/iao.2019.5913

By:

Hougaard, Dan Dupont;
Hestoy, Danjal Hofgaard;
Højland, Allan Thomas;
Gaihede, Michael;
Petersen, Michael Bjørn

Publication type:

Article

MELAS syndrome presenting with seizure and deafness in a Malawian boy.

Published in:

2017

By:

Macken, Marita;
Birbeck, Gretchen L.

Publication type:

journal article