Results 61 to 70 of about 2,461,819 (231)

Arginine and Citrulline for the Treatment of MELAS Syndrome

Journal of Inborn Errors of Metabolism and Screening, 2017
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disease with a broad spectrum of manifestations.
Ayman W. El-Hattab MD, FACMG, Mohammed Almannai MD, Fernando Scaglia MD, FACMG   +2 more
doaj   +1 more source

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

Pediatric Endocrinology Diabetes and Metabolism, 2021
MELAS syndrome (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) is a genetically determined disease caused by mutations in mitochondrial DNA.
Marta Baszyńska-Wilk, E. Moszczyńska, M. Szarras-Czapnik, M. Wysocka-Mincewicz, Urszula Wątrobińska, Agata Kozłowska, M. Szalecki   +6 more
semanticscholar   +1 more source

Mitochonic Acid 5 (MA-5) Facilitates ATP Synthase Oligomerization and Cell Survival in Various Mitochondrial Diseases [PDF]

, 2017
Mitochondrial dysfunction increases oxidative stress and depletes ATP in a variety of disorders. Several antioxidant therapies and drugs affecting mitochondrial biogenesis are undergoing investigation, although not all of them have demonstrated favorable
Abe Takaaki, Aiba Setsuya, Akiyama Yasutoshi, Akiyama Yukako, Hayashi Ken-ichiro, Hozawa Atsushi, Hsin-Jung HO, Ito Sadayoshi, Kanno Shin-ichiro, Kikuchi Koichi, Kikusato Motoi, Kudo Tai, Kumagai Naonori, Kure Shigeo, Mano Nariyasu, Matsuhashi Tetsuro, Matsuo Akihiro, Mishima Eikan, Mukaiyama Yasuno, Nakada Kazuto, Nanto Fumika, Oba Yuki, Ogasawara Emi, Ogata Masaki, Ohara Osamu, Oikawa Yoshitsugu, Osaka Hitoshi, Owada Yuji, Saigusa Daisuke, Sato Takeya, Shima Hisato, Shimbo Hiroko, Suzuki Chitose, Suzuki Kosuke, Suzuki Takehiro, Tomioka Yoshihisa, Toyomizu Masaaki, Uematsu Mitsugu, Watabe Akiko, Yamaguchi Hiroaki, Yanagisawa Teruyuki, 中田 和人   +41 more
core   +3 more sources

Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based Statements. [PDF]

Eur J Neurol
International Delphi‐based consensus defining MELAS as a clinical syndrome characterized by one or more stroke‐like episodes in the presence of a pathogenic mitochondrial DNA variant, most commonly m.3243A>G. The panel provides practical recommendations for acute and chronic management of stroke‐like episodes and highlights the absence of proven ...
Mancuso M, Bellusci M, Carelli V, de Coo I, Diodato D, Distelmaier F, Hikmat O, Hirano M, Horvath R, Karaa A, Klopstock T, Koenig MK, Kornblum C, La Morgia C, Lopriore P, Martikainen MH, McFarland R, Musumeci O, Pitceathly RDS, Primiano G, Rahman S, Scaglia F, Schaefer A, Schiff M, Semmler L, Lamperti C, Servidei S.   +26 more
europepmc   +2 more sources

Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease [PDF]

, 2016
INTRODUCTION: Peripheral nerve involvement is common in mitochondrial disease but often unrecognised due to the prominent central nervous system features.
Bhattacharya, K, Christodoulou, J, Clark, D, Ellaway, C, Farrar, M, Menezes, MP, Ouvrier, R, Pitt, M, Rahman, S, Ryan, MM, Sampaio, H, Thorburn, DR, Ware, TL, Wedatilake, Y   +13 more
core   +1 more source

The expanding phenotype of MELAS caused by the m.3291T>C mutation in the MT-TL1 gene

Molecular Genetics and Metabolism Reports, 2016
m.3291T>C mutation in the MT-TL1 gene has been infrequently encountered in association with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), however remains poorly characterized from a clinical perspective. In the
E. Keilland, C.A. Rupar, Asuri N. Prasad, K.Y. Tay, A. Downie, C. Prasad   +5 more
doaj   +1 more source

Segregation of mtDNA Throughout Human Embryofetal Development: m.3243A>G as a Model System [PDF]

, 2010
International audienceMitochondrial DNA (mtDNA) mutations cause a wide range of serious diseases with high transmission risk and maternal inheritance. Tissue heterogeneity of the heteroplasmy rate ("mutant load") accounts for the wide phenotypic spectrum
Monnot, Sophie, Gigarel, Nadine, Samuels, David C, Burlet, Philippe, Hesters, Laetitia, Frydman, Nelly, Frydman, René, Kerbrat, Violaine, Funalot, Benoît, Martinovic, Jéléna, Benachi, Alexandra, Feingold, Josué, Munnich, Arnold, Bonnefont, Jean-Paul, Steffann, Julie   +14 more
core   +3 more sources

Atypical Strokes in a Young African American Male: A Case of Mitochondrial Encephalopathy Lactic Acidosis and Stroke-Like Episodes (MELAS) Syndrome

Stroke Research and Treatment, 2011
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a rare but important cause of stroke-like symptoms which can often be missed Thambisetty and Newman 2004.
Jully M. Sanchez, Judy Ann Tan, Dimitrios Farmakiotis, Vikas Aggarwal   +3 more
doaj   +1 more source

Traumatic Brain Injury Triggers Neurodegeneration in a Mildly Symptomatic MELAS Patient: Implications on the Detrimental Role of Damaged Mitochondria in Determining Head Trauma Sequalae in the General Population

Metabolites, 2022
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a maternally inherited genetic mitochondrial disease with a typical onset in the first two decades of life and a major involvement of central nervous system ...
Simona Zanotti, Daniele Velardo, Monica Sciacco   +2 more
doaj   +1 more source

Recognition, investigation and management of mitochondrial disease [PDF]

, 2017
Mitochondria are dynamic organelles present in virtually all human cells that are needed for a multitude of cellular functions, including energy production, control of cell apoptosis and numerous biochemical catabolic and synthetic pathways that are ...
Davison, JE, Rahman, S
core   +1 more source