Diagnostic yield of genome sequencing in children with progressive movement disorders. View Abstract
DBSMatchMaker: Global Uptake and Insights from the First Year of a Collaborative Deep Brain Stimulation Platform. View Abstract
Longitudinal Dynamics of Plasma Neurofilament Light Chain in Hereditary Spastic Paraplegia Type 11 (HSP-SPG11) and Type 15 (HSP-ZFYVE26). View Abstract
Spectrum of Movement Disorders in Early-Onset Hereditary Spastic Paraplegia: A Study of 428 Cases. View Abstract
Health-Related Quality of Life in Rare Forms of Childhood-Onset Hereditary Spastic Paraplegia. View Abstract
The Spastic Paraplegia-Centers of Excellence Research Network (SP-CERN): Clinical Trial Readiness for Hereditary Spastic Paraplegia. View Abstract
DBSMatchMaker: Connecting Clinicians Globally for Deep Brain Stimulation in Rare Diseases. View Abstract
Heterozygous variants in AP4S1 are not associated with a neurological phenotype. View Abstract
Blended phenotype of TECPR2-associated hereditary sensory-autonomic neuropathy and Temple syndrome. View Abstract
STUB1-Associated Autosomal-Recessive Spinocerebellar Ataxia Type 16 (SCAR16) Presenting with Gordon-Holmes Syndrome Caused by Maternal Uniparental Isodisomy. View Abstract
Spectrum and Evolution of Movement Disorder Phenomenology in a Pediatric Powassan Encephalitis Case Series. View Abstract
Biallelic Variants in COQ4 Cause Childhood-Onset Pure Hereditary Spastic Paraplegia. View Abstract
Juvenile-onset Huntington's disease - Spectrum and evolution of presenting movement disorders. View Abstract