Results 51 to 60 of about 4,882 (214)
Epoetin alfa increases frataxin production in Friedreich's ataxia without affecting hematocrit. [PDF]
, 2011 Objective of the study was to test the efficacy, safety, and tolerability of two single doses of Epoetin alfa in patients with Friedreich's ataxia. Ten patients were treated subcutaneously with 600 IU/kg for the first dose, and 3 months later with 1200 ...
ACQUAVIVA, Fabio +13 more
core +1 more source
Frontiers in Neurology, 2023 CaseWe report the sperm characteristics of a male patient who developed, when he was 18 years old, a Leber hereditary optic neuropathy, a hereditary optic neuropathy due to mtDNA mutation as well as variants in the nuclear DNA. At the age of 30 years-old,
Christophe Orssaud +6 more
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi +2 more
wiley +1 more source
AntioxidantsInflammation is a natural protective process through which the immune system responds to injury, infection, or irritation. However, hyperinflammation or long-term inflammatory responses can cause various inflammatory diseases.
Yumin Choi +9 more
doaj +1 more source
Use of Idebenone for the Treatment of Leber’s Hereditary Optic Neuropathy
Journal of Inborn Errors of Metabolism and Screening, 2017 Leber’s hereditary optic neuropathy (LHON) is one of the most frequent mitochondrial disorders. It is caused by mutations in genes of the mitochondrial DNA coding for subunits of the respiratory chain and leads to severe bilateral vision loss, from which
Claudia B. Catarino MD, PhD +1 more
doaj +1 more source
Pharmaceutics, 2022 The excessive production of reactive oxygen species (ROS) causes harmful effects, including biomolecular damage and inflammation. ROS due to ultraviolet rays, blue light, and fine dust harm the skin, causing urban-related aging.
HeeSeon Yang +7 more
doaj +1 more source
An Overview of Leber’s Hereditary Optic Neuropathy [PDF]
, 2015 Typically affecting males ranging from 20 to 24 years of age, Leber’s Hereditary Optic Neuropathy (LHON) is a disorder that is characterized by an acute loss of central vision.
Dalton, Matthew R
core +2 more sources
Oxidative Stress: Mechanistic Insights into Inherited Mitochondrial Disorders and Parkinson's Disease [PDF]
, 2017 Oxidative stress arises when cellular antioxidant defences become overwhelmed by a surplus generation of reactive oxygen species (ROS). Once this occurs, many cellular biomolecules such as DNA, lipids, and proteins become susceptible to free radical ...
Al Shahrani, M +3 more
core +2 more sources
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
Pharmaceutics, 2021 Lipid nanoparticles (LNPs) have been proposed as carriers for drug skin delivery and targeting. As LNPs effectiveness could be increased by the addition of chemical penetration enhancers (PE), in this work, the feasibility of incorporating PE into LNPs ...
Lucia Montenegro +8 more
doaj +1 more source