Results 301 to 310 of about 247,622 (381)
Abstract Background Dysphagia significantly impacts prognosis in individuals with multiple system atrophy (MSA). While video‐based assessments are practical, their limited availability highlights the need for a simple tool such as the Dysphagia Severity Scale (DSS) in clinical practice.
Ryunosuke Nagao+8 more
wiley +1 more source
Neurodegenerative and Neurodevelopmental Roles for Bulk Lipid Transporters VPS13A and BLTP2
Abstract Background Bridge‐like lipid transfer proteins (BLTPs) mediate bulk lipid transport at membrane contact sites. Mutations in BLTPs are linked to both early‐onset neurodevelopmental and later‐onset neurodegenerative diseases, including movement disorders.
Sarah D. Neuman+4 more
wiley +1 more source
Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders
Abstract Background The genetic landscape of pediatric cerebellar disorders (PCDs) in Finland is undefined. Objectives The objective was to define epidemiological, clinical, neuroradiological, and genetic characteristics of PCDs in Northern Finland.
Katariina Granath+17 more
wiley +1 more source
Abstract Background Parkinsonism in infancy is rare and is highly correlated with the presence of dystonia. Advances in treating and characterizing developmental and infantile degenerative parkinsonism have highlighted the need for a specialized assessment scale.
Roser Pons+16 more
wiley +1 more source
Definition and Classification of Dystonia
Abstract Dystonia is a movement disorder with varied clinical features and diverse etiologies. Here we present a revision of the 2013 consensus definition and classification of dystonia in light of subsequent publications and experience with its application during the last decade.
Alberto Albanese+13 more
wiley +1 more source
Identification of GGC Repeat Expansions in ZFHX3 among Chilean Movement Disorder Patients
Abstract Background Hereditary ataxias are genetically diverse, yet up to 75% remain undiagnosed due to technological and financial barriers. The GGC repeat expansion in ZFHX3, responsible for spinocerebellar ataxia type 4 (SCA4), has only been described in individuals of Northern Europeandescent.
Paula Saffie‐Awad+22 more
wiley +1 more source
Physical Activity in Patients with Neuromuscular Disease Three Years after COVID-19, a Longitudinal Survey: The After-Effects of the Quarantine and the Benefits of a Return to a Healthier Life-Style. [PDF]
Leale I+13 more
europepmc +1 more source