Results 71 to 80 of about 27,503 (244)
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
Journal of Adolescence, EarlyView.ABSTRACT Introduction Loneliness has been associated with physical health outcomes, including an increased risk of cardiovascular disease (CVD). While much of the research has focused on older adults, less is known about whether loneliness during adolescence is related to CVD risk later in life.
Keun Young Kwon +3 more
wiley +1 more source
A Single Intravenous Injection of AAV-PHP.B-hNDUFS4 Ameliorates the Phenotype of Ndufs4−/− Mice
Molecular Therapy: Methods & Clinical Development, 2020 Leigh syndrome, or infantile necrotizing subacute encephalopathy (OMIM #256000), is one of the most common manifestations of mitochondrial dysfunction, due to mutations in more than 75 genes, with mutations in respiratory complex I subunits being the ...
Pedro Silva-Pinheiro +4 more
doaj +1 more source
JCPP Advances, EarlyView.Abstract Background Previous research has established an association between anxiety disorders and suicidal thoughts and attempts; however, much remains unknown about the role of specific anxiety symptoms, anxiety severity, and the impact of co‐occurring depression and hopelessness.
Marianne G. Chirica +3 more
wiley +1 more source
Leigh Disease - an update with a focus on neuropathological aspects
, 2017 The thesis gives an overview of the genetics, the neuropathology, clinical symptoms, treatments and describes a case that manifested in Szombathely.általános orvosangolegységes ...
Leigh, Lydia
core
Improved AAV9-based gene therapy design for SURF1-related Leigh syndrome with minimal toxicity
Molecular Therapy: Methods & Clinical DevelopmentSurfeit locus protein 1 (SURF1)-related Leigh syndrome is an early-onset neurodegenerative disorder characterized by a reduction in complex IV activity that disrupts mitochondrial function.
Qinglan Ling +5 more
doaj +1 more source
Movement Disorders Clinical Practice, EarlyView.Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño +6 more
wiley +1 more source
Leigh Syndrome: Report of a Rare Case with Late Onset Presentation
مجله كليه طب الكندي, 2018 Leigh's syndrome, or sub acute necrotizing encephalomyelopathy, is a rare inherited neurometabolic disease of infancy and early childhood with variable course and prognosis. Rarely, it occurs in juveniles and adults. The diagnosis is difficult and still
Qays A. Hassan
doaj +1 more source