Results 51 to 60 of about 2,461,819 (231)

MELAS and Kearns–Sayre overlap syndrome due to the mtDNA m. A3243G mutation and large-scale mtDNA deletions

eNeurologicalSci, 2016
This paper reported an unusual manifestation of a 19-year-old Chinese male patient presented with a complex phenotype of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome and Kearns–Sayre syndrome (KSS).
Nian Yu, Yan-fang Zhang, Kang Zhang, Yuan Xie, Xing-jian Lin, Qing Di   +5 more
doaj   +1 more source

Medical management of hereditary optic neuropathies. [PDF]

, 2014
Hereditary optic neuropathies are diseases affecting the optic nerve. The most common are mitochondrial hereditary optic neuropathies, i.e., the maternally inherited Leber's hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA).
Barboni, Piero, Carbonelli, Michele, Carelli, Valerio, La Morgia, Chiara, Sadun, Alfredo Arrigo   +4 more
core   +1 more source

Posterior Spinal Instrumented Fusion for Idiopathic Scoliosis in Patients with Multisystemic Neurodegenerative Disorder: A Report of Two Cases

Journal of Orthopaedic Surgery, 2016
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke (MELAS) syndrome is a progressive multisystemic neurodegenerative disorder. MELAS syndrome impairs oxidative phosphorylation and predisposes patients to lactic acidosis, particularly ...
Kwong Weng Loh, Chris Yin Wei Chan, Chee Kidd Chiu, Mohd Shahnaz Bin Hasan, Mun Keong Kwan   +4 more
doaj   +1 more source

MRI Features of Stroke-Like Episodes in Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes

Frontiers in Neurology, 2022
Mitochondrial myopathy encephalopathy lactic acidosis and stroke-like episodes (MELAS) is an important cause of stroke-mimicking diseases that predominantly affect patients before 40 years of age. MELAS results from gene mutations in either mitochondrial
Weiqin Cheng, Yuting Zhang, Ling He
doaj   +1 more source

The consequences of nuclear transfer for mammalian foetal development and offspring survival : a mitochondrial DNA perspective [PDF]

, 2004
Review of the articleThe introduction of nuclear transfer (NT) and other technologies that involve embryo reconstruction require us to reinvestigate patterns of mitochondrial DNA (mtDNA) transmission, transcription and replication.
Anderson, Barrientos, Barrientos, Barritt, Barritt, Birky, Birky, Blok, Boiani, Bortvin, Boulet, Brenner, Campbell, Cibelli, Clark, Clayton, Cohen, Cormier, Cummins, Davis, Do, Dunbar, Evans, Fisher, Gaertig, Gahan, Giles, Goto, Gyllensten, Hauswirth, Hayakawa, Hiendleder, Hoeh, Holt, Howell, Hsieh, Huo, Inoue, Jansen, Jenuth, Kaneda, Kaukonen, King, King, Laipis, Larsson, Larsson, Lazzari, Magnusson, Maher, Mandel, Marchington, Michaels, Moraes, Moyes, Pik  , Poulton, Poulton, Reik, Reynier, Saada, Schon, Schutz, Schwartz, Shi, Shitara, Shoffner, Smith, St. John, Steinborn, Steinborn, Sutovsky, Takeda, Takeda, Torroni, Van Blerkom, Van Blerkom, Van Goethem, Wakayama, Wallace, Zhang   +80 more
core   +1 more source

Macular dystrophy associated with the mitochondrial DNA A3243G mutation: pericentral pigment deposits or atrophy? Report of two cases and review of the literature. [PDF]

, 2014
BACKGROUND: The A3243G point mutation in mitochondrial DNA (mtDNA) is associated with MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) and MIDD syndromes (maternally inherited diabetes and deafness).
Borruat, F.X., Daruich, A., Matet, A.
core   +1 more source

Psychiatric aspects of the MELAS syndrome

Galen medical journal, 2023
MELAS (Mitochondrial Encephalopathy Lactic Acidosis and Stroke-like episodes) syndrome is a condition characterized by mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes.
M. Lačković
semanticscholar   +1 more source

Childhood mitochondrial encephalomyopathies: clinical course, diagnosis, neuroimaging findings, mtDNA mutations and outcome in six children [PDF]

, 2013
Mitochondrial dysfunction manifests in many forms during childhood. There is no effective therapy for the condition; hence symptomatic therapy is the only option. The effect of symptomatic therapy are not well known. We present clinical course, diagnosis
Jun Lu, Yuanyuan Huang
core   +1 more source

The Eye on Mitochondrial Disorders. [PDF]

, 2015
Ophthalmologic manifestations of mitochondrial disorders are frequently neglected or overlooked because they are often not regarded as part of the phenotype.
Daruich, A., Finsterer, J., Zarrouk-Mahjoub, S.   +2 more
core   +3 more sources

Reversal of Stroke-Like Episodes With L-Arginine and Meticulous Perioperative Management of Renal Transplantation in a Patient With Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS) Syndrome. Case Report

The Neurohospitalist, 2021
Mitochondrial encephalomyopathy, lactic acidosis and stroke like episodes (MELAS) syndrome is a maternally inherited mitochondrial disorder with recurrent non-arterial distribution stroke-like episodes (SLEs).
Ghalia Al yazidi, Jaap Mulder, C. Licht, E. Harvey, James Robertson, N. Sondheimer, I. Tein   +6 more
semanticscholar   +1 more source