Results 131 to 140 of about 1,969,076 (244)
Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende +26 more
wiley +1 more source
Alimentos ultraprocesados: evaluación de su clasificación, consumo y huellas epigenéticas asociadas
Celia Martinez-Perez +4 more
doaj
Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann +17 more
wiley +1 more source
Vestibular Patient Journey: Insights From Vestibular Disorders Association (VeDA) Registry
ABSTRACT Objective Vestibular symptoms impose a high burden of disability. Understanding real‐world diagnostic and treatment pathways can identify care gaps and guide interventions. We aimed to characterize symptom profiles, diagnostic trends, provider involvement, and treatment patterns in vestibular disorders.
Ali Rafati +10 more
wiley +1 more source
Estrategia de muestreo para la estimación de la tasa de favoritismo en la elección presidencial
Se fijan los objetivos y se definen los criterios metodológicos de una Encuesta Nacional de Favoritismo en Elecciones Presidenciales. Utilizando el hecho de que el candidato H. Serpa se presentó como candidato en 1998 y en 2002 se utilizan los resultados
LEONARDO BAUTISTA SIERRA
doaj
ABSTRACT Objective In multiple sclerosis, the optimal time for deploying a therapeutic intervention is before the central nervous system is damaged; given the success of trials treating the earliest stage of MS, the radiologically isolated syndrome, developing primary prevention strategies is an important next challenge.
Amy W. Laitinen +7 more
wiley +1 more source
Validity and Reliability of an Inertial Device (WIMU PROTM) to Tracking Analysis in Handball
Thanks to technological advances, new methods to analyse physiological, kinematical and spatial positioning variables have been developed. The collection of quantitative data will enable the training process enhancement in sport.
Alejandro Bastida-Castillo +3 more
doaj
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
Background: ruminal feed fermentation can be studied through in vitro gas production. However, this technique requires fistulated animals from which to obtain the inoculum, which limits its use. Objective: the objective of this experiment was to evaluate
Sandra L Posada +2 more
doaj
Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang +10 more
wiley +1 more source

