Results 91 to 100 of about 5,347 (184)

Cochlear implantation in MELAS syndrome: a systematic review of audiological outcomes, surgical considerations, and clinical implications

Journal of Rare Diseases
Purpose Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a rare mitochondrial disorder frequently associated with sensorineural hearing loss (SNHL).
David H. Elisha, Ryan Hossain, David H. Cohen, Andrea Monterrubio, Max Zalta, Rahul Mittal, Adrien A. Eshraghi   +6 more
doaj   +1 more source

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

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

Front Neurol, 2023
Zhao M, Zuo C, Hao H, Xing X, Zhao L, Li N.   +5 more
europepmc   +1 more source

Cochlear implantation in patients with MELAS syndrome

MELAS syndrome ( mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) is a rare congenital disorder of mitochondrial DNA (mt-DNA).
Johnson IJ, Anari S, Karkos PD
core  

Syndrome MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) de révélation tardive

, 2012
Le syndrome MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) est peu fréquent et caractérisé principalement par des accidents vasculaires cérébraux précoces, des crises d'épilepsie et des céphalées d'allure ...
Lemineur, Aurélie, Parmentier, Céline, Mormont, Eric   +2 more
core  

Magnetic Resonance Imaging and Spectroscopy of the Brain in MELAS Syndrome. [PDF]

Chonnam Med J, 2023
Tanitame K, Tanitame N.
europepmc   +1 more source

Cardiac Involvement in Patients with MELAS-Related mtDNA 3243A>G Variant

Cardiogenetics
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a rare disease with variable clinical manifestations. MELAS is most often caused by the human mitochondrial DNA (mtDNA) m.3243A>G variant.
Aino-Maija Vuorinen, Lauri Lehmonen, Mari Auranen, Sini Weckström, Sari Kivistö, Miia Holmström, Tiina Heliö   +6 more
doaj   +1 more source

Walsh & Hoyt: MELAS Syndrome

, 2005
The main diagnostic features are myopathy, encephalopathy, lactic acidosis, and stroke-like episodes at a young age (MELAS) (308). Affected patients may have episodic vomiting, seizures, and multiple neurologic deficits including hemiparesis ...
Michael X. Repka, MD
core  

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

, 2017
Defects in nuclear-encoded proteins of the mitochondrial translation machinery cause early-onset and tissue-specific deficiency of one or more OXPHOS complexes.
Minczuk M., Calvo SE, Garone C., Donati M. A., Montomoli M., Montomoli M, Minczuk, Michal, Calvo, Sarah, Donati, A, Lodi, T, Ferrero I., Mootha, Vamsi, Ferrero, Ileana, Procopio E., Mootha VK, Donati MA, D'Souza, AR, Montomoli, Martino, Garone, C, D'Souza AR, Guerrini R., Zeviani, Massimo, Donati, Maria Alice, Mootha V. K., Lodi, Tiziana, Dallabona, C, Rorbach, Joanna, DiMauro S., Procopio, E, DiMauro, S, Calvo, S, Rebelo-Guiomar, P, Rebelo-Guiomar P, Zeviani M, DiMauro, Salvatore, Minczuk, M, Dallabona C, Rebelo-Guiomar, Pedro, D’Souza, Aaron R, Rorbach J., Montomoli, M, Dallabona C., Zeviani M., Dallabona, Cristina, Rorbach J, DiMauro S, Garone C, Rorbach, J, Guerrini R, Rebelo-Guiomar P., Mootha, V, Procopio, Elena, Guerrini, R, Ferrero, I, Lodi T., Lodi T, Ferrero I, Guerrini, Renzo, Garone, Caterina, Zeviani, M, Calvo S. E., D'Souza A. R., Procopio E   +62 more
core   +1 more source

Case studies of two families with MIDD and MELAS: heteroplasmy level in m.3243A>G mutation and the first report on m.3271T>C mutation in Colombia

Case Reports, 2016
MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) and MIDD syndrome (maternally inherited diabetes and deafness) are mitochondrial diseases caused in most cases by the same mutation m.3243A> G, which affects the
Jorge Luis Granadillo De Luque, Manuel Luna, Leonardo Hernández-Reina, Clara Arteaga-Diaz, Juan Manuel Arteaga-Díaz   +4 more
doaj