Results 181 to 190 of about 239,963 (355)
Corticospinal Tract Development, Evolution, and Skilled Movements
Abstract The evolution of the corticospinal tract (CST) is closely linked to the development of skilled voluntary movements in mammals. The main evolutionary divergence concerns the position of the CST within the spinal cord white matter and its postsynaptic targets in the grey matter.
Emmanuel Roze+2 more
wiley +1 more source
Long‐Read Sequencing: The Third Generation of Diagnostic Testing for Dystonia
Abstract Long‐read sequencing methodologies provide powerful capacity to identify all types of genomic variations in a single test. Long‐read platforms such as Oxford Nanopore and PacBio have the potential to revolutionize molecular diagnostics by reaching unparalleled accuracies in genetic discovery and long‐range phasing.
Thomas Wirth+2 more
wiley +1 more source
Abstract Background Defects of mitochondrial ATP synthase (ATPase) represent an emerging, yet incompletely understood group of neurodevelopmental diseases with abnormal movements. Objective The aim of this study was to redefine the phenotypic and mutational spectrum of movement disorders linked to the ATPase subunit‐encoding genes ATP5F1A and ATP5F1B ...
Philip Harrer+21 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
Characteristics of children with ataxic cerebral palsy. [PDF]
Pettersson K+3 more
europepmc +1 more source
Anorexia nervosa in a child with cerebral palsy. [PDF]
Nishiue Y, Miyawaki D, Koki M, Harada T.
europepmc +1 more source