Results 91 to 100 of about 145,125 (343)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective People with epilepsy (PWE) may experience cognitive deficits but fail to undergo formal evaluation. This study compares cognitive status between PWE and healthy controls in the West African Republic of Guinea. Methods A cross‐sectional, case–control study was conducted in sequential recruitment phases (July 2024–July 2025) at Ignace ...
Maya L. Mastick +14 more
wiley +1 more source
Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...
Chandra L. Miller +6 more
wiley +1 more source
Genetic diagnosis of inborn errors of immunity using clinical exome sequencing [PDF]
, 2023 Soon Sung Kwon +9 more
openalex +1 more source
Coincident onset of multiple sclerosis and herpes simplex virus 1 encephalitis. a case report [PDF]
, 2017 Background: Along with vitamin D, smoking, body mass index and others, Epstein Barr virus, other herpesviruses and human endogenous retroviruses represent plausible environmental risk factors for multiple sclerosis.
Buscarinu, M. C. +7 more
core +2 more sources
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Glioma recurrence severely impacts patient prognosis, with current treatments showing limited efficacy. Traditional methods struggle to analyze recurrence mechanisms due to challenges in assessing tumor heterogeneity, spatial dynamics, and gene networks.
Lei Qiu +10 more
wiley +1 more source
Journal of Pediatric Research, 2018 Inborn errors of metabolism comprise a broad range of genetic diseases of which most are inherited in an autosomal recessive manner. Although being rare, there is a significant increase in their rate especially in countries where consanguineous marriages
Asburçe Olgaç +4 more
doaj +1 more source
Insights into mucosal associated invariant T cell biology from human inborn errors of immunity [PDF]
, 2022 Lauren J. Howson, Vanessa L. Bryant
openalex +1 more source
Aesthetic restoration in maxillo-mandibular malformations: the role of genioplasty [PDF]
, 2015 Aim: The aim of this study was to determinate how orthognatic surgery aids to cure many skull and face abnormalities and to help re-establishing the correct occlusive relation thanks to the repositioning of the maxillo-mandibular skeleton basis. Methods:
Agrillo, Alessandro +6 more
core +1 more source
Enzyme‐Regulated Extended Swelling of Hydrogels for Dehiscence‐Less Tissue Expansions
Advanced Functional Materials, EarlyView.An interpenetrating hydrogel network with swelling under regulation by enzymatic degradation (INSURED) is fabricated to avoid dehiscence. INSURED remains structurally intact post‐implantation, while HYAL injection enables control over the onset and rate of swelling.
Byung Ik Park +10 more
wiley +1 more source
Amino Acids and Acylcarnitines Reference Values for Neonatal Screening of Inborn Errors of Metabolism in Colombia by Tandem Mass Spectrometry [PDF]
, 2021 Antonio Bermúdez +3 more
openalex +1 more source