Results 41 to 50 of about 8,951 (213)

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

Biomaterial design strategies for enhancing mitochondrial transplantation therapy

BMEMat, EarlyView.
Biomaterials to facilitate mitochondrial transplantation therapy: biomaterials as barriers to protect mitochondria from pathophysiological microenvironments, like osmotic stress caused by the excessive concentration of calcium ion, reactive oxygen species, and advanced glycation end products; biomaterials integrating with biochemical cues to improve ...
Shaoyang Kang, Yushan Zhang, Hang Li, Sirui Peng, Donghao Lyu, Chunxiao Zhou, Sheng Ding, Zujian Feng, Pingsheng Huang, Chuangnian Zhang, Hongjun Wang, Deling Kong, Weiwei Wang   +12 more
wiley   +1 more source

Mitochondrial Encephalopathy and Cytochrome C

Pediatric Neurology Briefs, 1997
Benefits from treatment of mitochondrial encephalomyopathy (MEM) with cytochrome C (6.25 mg) and vitamins Bl (25 mg) and B2 (12.5 mg), in daily injections, are reported from Osaka University Medical School and other centers in Japan.
J Gordon Millichap
doaj   +1 more source

Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions [PDF]

, 2014
Background: An increasing number of mitochondrial DNA (mtDNA) mutations, mainly in complex I genes, have been associated with variably overlapping phenotypes of Leber’s hereditary optic neuropathy (LHON), mitochondrial encephalomyopathy with stroke ...
A Achilli, A Gómez-Durán, A Maresca, Anna Olivieri, Antonia Parmeggiani, Antonio Torroni, AS Lebre, B Funalot, C Giordano, C La Morgia, Carlotta Stipa, Caterina Tonon, Chiara La Morgia, Cristina Scaduto, Daniela Brunetto, F Ji, Francesca Gandini, Francesco Toni, J Yang, JY Kim, L Caporali, Leonardo Caporali, Raffaele Lodi, RM Andrews, SL Cui, Stefania Nassetti, V Carelli, V Carelli, Valerio Carelli   +28 more
core   +3 more sources

Ictal–interictal continuum and status epilepticus: Two sides of the same coin? A prospective magnetic resonance imaging study

Epilepsia, EarlyView.
Abstract Objective Status epilepticus (SE) is the most severe expression of seizures, encompassing both SE with prominent motor symptoms and nonconvulsive SE (NCSE). Ictal–interictal continuum (IIC), an electroencephalographic phenomenon, is characterized by periodic discharges (PD), spike‐and‐waves or sharp‐and‐waves (SW), or lateralized rhythmic ...
Pilar Bosque‐Varela, Lukas Machegger, Wanda Lauth, Panagiota Eleni Tsalouchidou, Susanne Knake, Georg Zimmermann, Nicolas Jannone‐Pedro, Giada Giovannini, Stefano Meletti, Adrian Ridski Harsono, Fabio Rossini, Markus Leitinger, Johannes Pfaff, Sándor Beniczky, Eugen Trinka, Giorgi Kuchukhidze   +15 more
wiley   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Two novel SUCLA2 variants cause mitochondrial DNA depletion syndrome, type 5 in two siblings

Frontiers in Neurology
Mitochondrial DNA depletion syndrome (MDS), characterized by succinate-CoA ligase deficiency and loss of mitochondrial DNA (mtDNA), is caused by specific variants in nuclear genes responsible for mtDNA maintenance.
Xiaohuan Zhang, Xiaohuan Zhang, Guo Zhang, Li Cao, Li Cao, Wenjing Zhou, Wenjing Zhou, Chang Tan, Chang Tan, Shi Ma, Shi Ma, Jiyun Yang, Jiyun Yang   +12 more
doaj   +1 more source

Metabolic effects of bezafibrate in mitochondrial disease

EMBO Molecular Medicine, 2020
Mitochondrial disorders affect 1/5,000 and have no cure. Inducing mitochondrial biogenesis with bezafibrate improves mitochondrial function in animal models, but there are no comparable human studies. We performed an open‐label observational experimental
Hannah Steele, Aurora Gomez‐Duran, Angela Pyle, Sila Hopton, Jane Newman, Renae J Stefanetti, Sarah J Charman, Jehill D Parikh, Langping He, Carlo Viscomi, Djordje G Jakovljevic, Kieren G Hollingsworth, Alan J Robinson, Robert W Taylor, Leonardo Bottolo, Rita Horvath, Patrick F Chinnery   +16 more
doaj   +1 more source

Syndromes associated with mitochondrial DNA depletion [PDF]

, 2014
This is an Open Access article distributed under the terms of the Creative Commons Attribution License.Mitochondrial dysfunction accounts for a large group of inherited metabolic disorders most of which are due to a dysfunctional mitochondrial ...
Almeida, Ligia S., Nesti, C., Nogueira, Célia, Pezzini, I., Santorelli, F.M., Videira, A., Vilarinh, Laura   +6 more
core   +1 more source

Pathology of Mitochondrial Encephalomyopathies [PDF]

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 2005
ABSTRACT:Muscle biopsy provides the best tissue to confirm a mitochondrial cytopathy. Histochemical features often correlate with specific syndromes and facilitate the selection of biochemical and genetic studies. Ragged-red fibres nearly always indicate a combination defect of respiratory complexes I and IV.
Harvey B, Sarnat, José, Marín-García
openaire   +2 more sources