Results 91 to 100 of about 10,678 (188)
The Genetic Landscape of Hereditary Spastic Paraplegia in Greece
We investigated 112 Greek index‐cases with hereditary spastic paraplegia collected over > 25 years using NGS and MLPA. We identified a causative variant in 68 patients (60.7%), including 7 novel causative variants. This study presents a comprehensive overview of the phenotypic and genotypic spectrum of HSP in the Greek population.
Georgios Koutsis +19 more
wiley +1 more source
Two Cases of SPEN Haploinsufficiency Presenting with Dystonia: Expanding the Genotype and Phenotype
Movement Disorders Clinical Practice, EarlyView.
Lisa Buikema +5 more
wiley +1 more source
This systematic review identifies and categorizes the spectrum of non‐epileptic paroxysmal events in Rett syndrome. Respiratory disturbances, behavioural episodes, and motor events were the most commonly reported. Improving clinician awareness and diagnostic clarity is key to avoiding unnecessary treatment and enhancing quality of life for individuals ...
Natasha Bhatti, Daniel E. Lumsden
wiley +1 more source
Movement Disorders Clinical Practice, EarlyView.
Luca Angelini, Rick C.G. Helmich
wiley +1 more source
WONOEP XVII appraisal: The immunopathogenesis of epilepsy
Abstract There is a wealth of data indicating that the immune system plays an important role in seizure disorders. This includes autoimmune encephalitis, in which an immune response directed against neuronal antigens results in brain inflammation and subsequent seizure activity, as well as autoimmune‐associated epilepsy and neuroinflammatory changes ...
Nihan Çarçak +12 more
wiley +1 more source
Olfactory dysfunction as a diagnostic and prognostic marker for movement disorders
Olfactory dysfunction (OD) is a common nonmotor symptom observed in several movement disorders. The severity and pattern of olfactory impairment vary among these conditions.
Aliasghar Peyvandi +7 more
doaj +1 more source
Abstract Introduction Climate distress (CD) is an emerging psychological response to the climate crisis, encompassing anxiety, grief, shame, and helplessness. While empirical research has begun to explore its prevalence and emotional impacts, little is known about the lived experience of CD.
Jessica L. Morgan +2 more
wiley +1 more source
ABSTRACT Background Pain in Parkinson's disease (PD) manifests clinically in a variety of ways and several pain types have been identified, however, their characteristics have not been extensively studied. Objective To describe the characteristics of common pain types in people with PD.
Anthony Mezzini +4 more
wiley +1 more source
Insights Into the Antigenic Repertoire of Unclassified Synaptic Antibodies
ABSTRACT Objective We sought to characterize the sixth most common finding in our neuroimmunological laboratory practice (tissue assay‐observed unclassified neural antibodies [UNAs]), combining protein microarray and phage immunoprecipitation sequencing (PhIP‐Seq). Methods Patient specimens (258; 133 serums; 125 CSF) meeting UNA criteria were profiled;
Michael Gilligan +22 more
wiley +1 more source

