Results 91 to 100 of about 5,374 (184)

Walsh & Hoyt: MELAS Syndrome [PDF]

, 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 [PDF]

, 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   +2 more sources

Understanding the Vascular Pathology associated with MELAS Syndrome [PDF]

MELAS syndrome is a multi-organ disorder with a wide range of clinical manifestations, including hearing loss, cardiomyopathy, retinopathy, and stroke-like events. It can also be associated with type 2 diabetes.
Adrita, Chanda
core  

Investigating neurodevelopmental defects in MELAS syndrome using neural organoids derived from induced pluripotent stem cells [PDF]

, 2018
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome is characterised by many neurological symptoms such as dementia and epilepsy.
Khong, Zi Jian
core  

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

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

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

Poster Sessions

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

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

Eur Heart J Case Rep, 2023
Wang A, Zhao J, Zhao Y, Yan Y.
europepmc   +1 more source