Works matching MELAS syndrome

Results: 336

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

Cochlearis implantációval szerzett tapasztalataink MELAS-szindrómás betegeinknél - Esetismertetés.

Published in:

Otorhinolaryngologia Hungarica / Fül-Orr-Gégegyógyászat, 2019, v. 65, n. 4, p. 135

By:

Németh, Adrienne;
Bocskai, Tímea;
Tóth, Tamás;
Molnár, Krisztián;
Gerlinger, Imre

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

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

Magnetic resonance spectroscopy in MELAS syndrome: correlation with CSF and plasma metabolite levels and change after glutamine supplementation.

Published in:

Neuroradiology, 2024, v. 66, n. 3, p. 389, doi. 10.1007/s00234-023-03263-1

By:

Guerrero-Molina, María Paz;
Bernabeu-Sanz, Ángela;
Ramos-González, Ana;
Morales-Conejo, Montserrat;
Delmiro, Aitor;
Domínguez-González, Cristina;
Arenas, Joaquín;
Martín, Miguel A.;
González de la Aleja, Jesús

Publication type:

Article

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

Late-onset MELAS syndrome in a 46-year-old man with initial symptom of chest tightness: a case report.

Published in:

European Heart Journal Case Reports, 2023, v. 7, n. 9, p. 1, doi. 10.1093/ehjcr/ytad441

By:

Wang, Ai;
Zhao, Ji;
Zhao, Yun;
Yan, Yan

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

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

Remimazolam anesthesia for transcatheter mitral valve repair in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome: a case report.

Published in:

JA Clinical Reports, 2022, v. 8, n. 1, p. 1, doi. 10.1186/s40981-022-00528-1

By:

Kitaura, Atsuhiro;
Kosumi, Reiko;
Iwamoto, Tatsushige;
Nakao, Shinichi

Publication type:

Article

Treatment Options for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) Syndrome.

Published in:

Pharmacotherapy, 2010, v. 30, n. 11, p. 1179, doi. 10.1592/phco.30.11.1179

By:

Santa, Kristin M.

Publication type:

Article

A novel m.5906G > a variant in MT-CO1 causes MELAS/Leigh overlap syndrome.

Published in:

Molecular Genetics & Genomics, 2024, v. 299, n. 1, p. 1, doi. 10.1007/s00438-024-02181-y

By:

Liu, Zhimei;
Xie, Yaojun;
Lou, Xiaoting;
Zeng, Xiaofei;
Zhang, Luyi;
Yu, Meng;
Wang, Junling;
Li, Jiuwei;
Shen, Danmin;
Li, Hua;
Zhao, Suzhou;
Zhou, Yuwei;
Fang, Hezhi;
Lyu, Jianxin;
Yuan, Yun;
Wang, Zhaoxia;
Jin, Liqin;
Fang, Fang

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

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

Phenotypic patterns of MELAS/LS overlap syndrome associated with m.13513G>A mutation, and neuropathological findings in one autopsy case.

Published in:

Neuropathology, 2010, v. 30, n. 6, p. 606, doi. 10.1111/j.1440-1789.2010.01115.x

By:

Zhaoxia Wang;
Xiao Kun Qi;
Sheng Yao;
Bin Chen;
Xinghua Luan;
Wei Zhang;
Manfu Han;
Yun Yuan

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

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

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

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

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

Increased prevalence of vitiligo, but no evidence of premature ageing, in the skin of patients with bp 3243 mutation in mitochondrial DNA in the mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome (MELAS).

Published in:

British Journal of Dermatology, 1999, v. 140, n. 4, p. 634, doi. 10.1046/j.1365-2133.1999.02761.x

By:

KARVONEN;
HAAPASAARI;
KALLIOINEN;
OIKARINEN;
HASSINEN;
K.MAJAMAA, AND;
Karvonen, Seija-Liisa

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

Precipitation of stroke-like event by chickenpox in a child with MELAS syndrome.

Published in:

2005

By:

Jian-Ren, Liu

Publication type:

journal 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

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

The Coexistence of Generalized and Lateralized Periodic Discharges: Report of Two Adult Cases with SSPE and MELAS Syndrome.

Published in:

2011

By:

Taşkıran, Aslıhan;
Saygı, Serap

Publication type:

Case Study

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

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

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/SANDO overlap syndrome associated with POLG1 mutations.

Published in:

2012

By:

Hansen, Niels;
Zwarg, Thomas;
Wanke, Isabel;
Zierz, Stephan;
Kastrup, Oliver;
Deschauer, Marcus

Publication type:

Letter

Management von Patienten mit MELAS-Syndrom : Ein Fallbericht und allgemeine Besonderheiten aus anästhesiologischer Sicht.

Published in:

2020

By:

Roth, Sebastian;
Nienhaus, Johannes;
Nickel, Frank;
Kindgen-Milles, Detlef;
Kienbaum, Peter;
Huhn, Ragnar

Publication type:

journal article

Anästhesiologische Besonderheiten bei Patienten mit MELAS-Syndrom: Fallbericht einer Anästhesie im Rahmen einer videoassistierten Thorakoskopie.

Published in:

2015

By:

Haas, A.;
Wappler, F.

Publication type:

journal article

Speech-Language and swallowing manifestations and rehabilitation in an 11-year-old girl with MELAS syndrome.

Published in:

Journal of Pediatric Neurosciences, 2015, v. 10, n. 1, p. 31, doi. 10.4103/1817-1745.154326

By:

Vandana, V. P.;
Bindu, Parayil Sankaran;
Sonam, Kothari;
Taly, Arun B.;
Gayathri, N.;
Madhu, N.;
Sinha, S.

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

An mtDNA mutation, 14453G→A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 10, p. 805, doi. 10.1038/sj.ejhg.5200712

By:

Ravn, Kirstine;
Wibrand, Flemming;
Hansen, Flemming Juul;
Horn, Nina;
Rosenberg, Thomas;
Schwartz, Marianne

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

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

Zaburzenia psychiczne u pięciu pacjentów cierpiących na zespół MELAS.

Published in:

Psychiatria Polska, 2014, v. 48, n. 5, p. 1035

By:

Magner, Martin;
Honzik, Tomas;
Tesarova, Marketa;
Dvorakova, Veronika;
Hansikova, Hana;
Raboch, Jiři;
Zeman, Jiři

Publication type:

Article

Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndrome.

Published in:

Prenatal Diagnosis, 2004, v. 24, n. 5, p. 367, doi. 10.1002/pd.876

By:

Chou, Yin-Jou;
Ou, Chia-Yu;
Hsu, Te-Yao;
Liou, Chia-Wei;
Lee, Cheng-Feng;
Tso, Dan-Ju;
Wei, Yau-Huei

Publication type:

Article

Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature.

Published in:

Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2019.00038

By:

Gagliardi, Delia;
Mauri, Eleonora;
Magri, Francesca;
Velardo, Daniele;
Meneri, Megi;
Abati, Elena;
Brusa, Roberta;
Faravelli, Irene;
Piga, Daniela;
Ronchi, Dario;
Triulzi, Fabio;
Peverelli, Lorenzo;
Sciacco, Monica;
Bresolin, Nereo;
Comi, Giacomo Pietro;
Corti, Stefania;
Govoni, Alessandra

Publication type:

Article

MERRF/MELAS overlap syndrome due to the m.3291T>C mutation.

Published in:

Metabolic Brain Disease, 2014, v. 29, n. 1, p. 139, doi. 10.1007/s11011-013-9464-5

By:

Liu, Kaiming;
Zhao, Hui;
Ji, Kunqian;
Yan, Chuanzhu

Publication type:

Article

Cortical venous disease severity in MELAS syndrome correlates with brain lesion development.

Published in:

Neuroradiology, 2017, v. 59, n. 8, p. 813, doi. 10.1007/s00234-017-1866-3

By:

Whitehead, M.;
Wien, M.;
Lee, B.;
Bass, N.;
Gropman, A.

Publication type:

Article

Encefalomiopatía mitocondrial, acidosis láctica y episodios de accidente cerebrovascular, síndrome de MELAS. Reporte de un caso clínico.

Published in:

Gaceta Médica Boliviana, 2015, v. 38, n. 1, p. 34

By:

Padín, Carlos Eduardo;
Zirulnik, Esteban Raúl;
Abraham, Cecilia Rita;
Rojas Salazar, Enrique Gonzalo

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

A Novel Mutation in the Mitochondrial 16S rRNA Gene in a Patient with MELAS Syndrome, Diabetes Mellitus, Hyperthyroidism and Cardiomyopathy.

Published in:

Journal of Biomedical Science, 2001, v. 8, n. 4, p. 328, doi. 10.1007/BF02258374

By:

Rong-Hong Hsieh, Philip K.;
Jei-Yuan Li, Philip K.;
Cheng-Yoong Pang, Philip K.;
Yau-Huei Wei

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

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