The ferroptosis inducer RSL3 triggers interictal epileptiform activity in mice cortical neurons
Frontiers in Cellular Neuroscience, 2023 Epilepsy is a neurological disorder characterized by recurrent seizures, which result from excessive, synchronous discharges of neurons in different brain areas. In about 30% of cases, epileptic discharges, which vary in their etiology and symptomatology,
Michela Giustizieri +8 more
doaj +1 more source
Integrated Multi-Omics Analysis for Inferring Molecular Players in Inclusion Body Myositis
Antioxidants, 2023 Inclusion body myositis (IBM) is an acquired inflammatory myopathy affecting proximal and distal muscles that leads to weakness in patients over 50.
Judith Cantó-Santos +15 more
doaj +1 more source
Italian Journal of Pediatrics, 2020 Background Childhood epilepsies are a heterogeneous group of conditions differing in diagnostic criteria, management, and outcome. Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) is a neurodegenerative condition caused by biallelic TPP1 ...
Elisabetta Amadori +17 more
doaj +1 more source
Ferroptosis in Friedreich’s Ataxia: A Metal-Induced Neurodegenerative Disease
Biomolecules, 2020 Ferroptosis is an iron-dependent form of regulated cell death, arising from the accumulation of lipid-based reactive oxygen species when glutathione-dependent repair systems are compromised.
Piergiorgio La Rosa +4 more
doaj +1 more source
Epilepsia Open, 2023 Objective NPRL3‐related epilepsy (NRE) is an emerging condition set within the wide GATOR‐1 spectrum with a particularly heterogeneous and elusive phenotypic expression.
Alice Dainelli +11 more
doaj +1 more source
Exertional heat stroke-related rhabdomyolysis recurring twice in a 12-year-old boy athlete [PDF]
Pediatric Emergency Medicine Journal, 2022 Exertional heat stroke (EHS) is a life-threatening entity characterized by elevated core temperature with potential for multiorgan dysfunction. EHS-related rhabdomyolysis usually occurs in the early phase.
Soo Jin Kwon +5 more
doaj +1 more source
Improving translational studies: lessons from rare neuromuscular diseases [PDF]
, 2015 Animal models play a key role in the development of novel treatments for human disease. This is particularly true for rare diseases – defined as disorders that affect less than 1 in 2000 people in the human population – for which, very often, there are ...
Wells, D J
core +3 more sources
Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency::a systematic review [PDF]
, 2019 Background: Mitochondrial trifunctional protein (MTP) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiencies are rare fatty acid β-oxidation disorders. Without dietary management the conditions are life-threatening. We conducted a systematic
Clarke, Aileen +7 more
core +2 more sources
Different outcome of sarcoglycan missense mutation between human and mouse [PDF]
, 2018 Sarcoglycanopathies are rare autosomic limb girdle muscular dystrophies caused by mutations in one of the genes coding for sarcoglycan (α, β, δ, and γ-sarcoglycans).
Bourg, Nathalie +6 more
core +9 more sources
Testing the Feasibility of a Passive and Active Case Ascertainment System for Multiple Rare Conditions Simultaneously: The Experience in Three US States [PDF]
, 2016 Background: Owing to their low prevalence, single rare conditions are difficult to monitor through current state passive and active case ascertainment systems.
Mann, Joshua +6 more
core +3 more sources