Results 91 to 100 of about 12,985,405 (284)
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
Movement Disorders, EarlyView.Abstract Background Parkinson's disease (PD) is characterized by predominantly neuronal α‐synuclein pathology and dopaminergic dysfunction. Cerebrospinal fluid (CSF) seeding amplification assays (SAA) detect α‐synuclein aggregates in vivo, but not all patients with PD have a positive SAA.
Michael Tran Duong +186 more
wiley +1 more source
NEUROCHEMICAL CHANGES IN LEIGH'S DISEASE
Journal of Nutritional Science and Vitaminology, 1976 A series of children with Leigh's disease had normal hepatic pyruvate carboxylase activity, increased cerebral thiamine diphosphate, and decreased cerebral thiamine triphosphate. These thiamine esters were normal in liver. The author suggests that the histologic changes of Leigh's disease, as well as the similar changes of Wernicke's disease, could be ...
openaire +3 more sources
Genetics and insurance in the United Kingdom 1995-2010: the rise and fall of scientific discrimination [PDF]
, 2012 Around the millennium there was extensive debate in the United Kingdom of the possible use of predictive genetic tests by insurance companies. Many insurance experts, geneticists and public policymakers appeared to believe that genetic test results would
Thomas, R. Guy
core +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa +7 more
wiley +1 more source
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
Coenzyme Q10 Loaded DQAsomes for Leigh Disease [PDF]
, 2023 Ahmet Doğan Ergin +3 more
openalex +1 more source
Chinese Clinical Practice Guidelines for Auditory Neuropathy (gCAN)
World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.ABSTRACT Auditory neuropathy (AN) is an auditory disorder that affects the function of the auditory pathway. An increasing number of AN cases have been identified with the revelation of the underlying mechanisms, the advancements of diagnostic and detecting techniques.
Chinese Multi‐Center Research Collaborative Group on Clinical Diagnosis and Intervention of Auditory Neuropathy; Editorial Board of Chinese Journal of Otorhinolaryngology Head and Neck Surgery; Society of Otorhinolaryngology Head and Neck Surgery +43 more
wiley +1 more source
Zoo Biology, EarlyView.Female white rhinos in zoos systematically exceed the body mass range for free‐ranging specimens; this is not the case in black rhinos. ABSTRACT The body mass of zoo animals may differ from those in wild populations due to the different environmental and dietary conditions being offered under human‐managed care.
Elisa Garand +7 more
wiley +1 more source
Leigh Syndrome Due to mtDNA Pathogenic Variants
Journal of Inborn Errors of Metabolism and Screening, 2019 Leigh syndrome is a devastating neurodegenerative disease, typically manifesting in infancy or early childhood. Hallmarks of the disease are symmetrical lesions in the basal ganglia or brain stem on MRI, and a clinical course with rapid deterioration of ...
Cristina Pereira +7 more
doaj +1 more source