Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz +3 more
wiley +1 more source
Shared Genetic Effects and Antagonistic Pleiotropy Between Multiple Sclerosis and Common Cancers
ABSTRACT Objective Epidemiologic studies have reported inconsistent altered cancer risk in individuals with multiple sclerosis (MS). Factors such as immune dysregulation, comorbidities, and disease‐modifying therapies may contribute to this variability.
Asli Buyukkurt +5 more
wiley +1 more source
Studying habit acquisition with an avoidance learning task [PDF]
Afiliaciones: Universidad de Málaga and Instituto de Investigación Biomédica de Málaga (IBIMA), Spain Universidad de Málaga, Spain University of Leuven, BelgiumThe study of habit acquisition and expression is considered relevant to improve our ...
Andrades, Ainhoa +4 more
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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
Después de haber compartido 30 años en la misma cama, todavía no alcanzaba a llegar a su corazón. Décadas atrás, su cara –la de ella– no conocía las arrugas y la piel hacía caso omiso a la gravedad; pasaron los años y él admiró cómo los senos se caían ...
Lizeth J. Piza
doaj
ABSTRACT Objective Stereoelectroencephalography‐guided radiofrequency thermocoagulation (SEEG‐RFTC) has emerged as a safe and effective minimally invasive treatment for children with drug‐resistant focal epilepsy. Although evidence from real‐world studies remains limited, numerous pediatric cases have demonstrated promising outcomes. This retrospective
Weitao Chen +7 more
wiley +1 more source
Exploring the relationship between dietary patterns, eating behaviour and fat taste detection thresholds : a thesis presented in partial fulfilment of the requirements for the degree of Masters of Science in Nutrition and Dietetics at Massey University, Albany, New Zealand [PDF]
Background: Dietary pattern analysis provides a unique opportunity to explore combinations of food intake in conjunction with factors known to affect dietary intake. Fat taste sensitivity is an emerging correlate of dietary intake and, when impaired, has
Henderson, Lisa
core
Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone +8 more
wiley +1 more source
ABSTRACT Objective Considerable efforts have been dedicated to developing effective treatments for post‐stroke executive impairment (PSEI), among which repetitive transcranial magnetic stimulation (rTMS) has shown great potential. This study aimed to investigate the therapeutic effects of high‐frequency rTMS on working memory (WM) and response ...
Mengting Lao +6 more
wiley +1 more source
Applying psychological theory to evidence-based clinical practice : identifying factors predictive of managing upper respiratory tract infections without antibiotics [PDF]
Background: Psychological models can be used to understand and predict behaviour in a wide range of settings. However, they have not been consistently applied to health professional behaviours, and the contribution of differing theories is not clear. The
Bonetti, Debbie +9 more
core

