ABSTRACT Objective This study aimed to systematically observe the clinical manifestations, immune cell subsets, and dynamic changes in serological indicators in patients with myasthenia gravis (MG) before and after efgartigimod (EFG) treatment. Methods We analyzed the baseline data, laboratory parameters, and lymphocyte subset proportions in MG ...
Tiancheng Luo +9 more
wiley +1 more source
Unveiling the regulatory potential of the non-coding genome: Insights from the human genome project to precision medicine. [PDF]
Ruffo P, Traynor BJ, Conforti FL.
europepmc +1 more source
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
Toward building a comprehensive human pan-genome: The SEN-GENOME project. [PDF]
Gaye A +5 more
europepmc +1 more source
Raw reads from Kocuria sp. str. UCD-OTCP genome sequencing project
Coil David +4 more
openalex +1 more source
Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron +5 more
wiley +1 more source
Experiences of participants with undiagnosed diseases and hereditary cancers during the initial phase of the Hong Kong genome project: a mixed-methods study. [PDF]
Chu AT +10 more
europepmc +1 more source
GenomeChronicler: The Personal Genome Project UK Genomic Report Generator Pipeline. [PDF]
Guerra-Assunção JA +9 more
europepmc +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

