Results 171 to 180 of about 164,048 (382)
Expanding the Genetic and Phenotypic Spectrum of DYT‐VPS16: The Importance of Splice‐Site Variants
Abstract Background DYT‐VPS16, an early‐onset isolated dystonia caused by variants in the VPS16 gene, has been reported in fewer than 70 patients. Methods We explored the clinical and genotypic spectrum of DYT‐VPS16 by investigating early‐onset dystonia patients with VPS16 variants discovered in our large Biodatabank and through gene‐matching ...
Ana Westenberger +39 more
wiley +1 more source
Increased Lower Limb Spasticity but Not Strength or Function Following a Single-Dose Serotonin Reuptake Inhibitor in Chronic Stroke [PDF]
Objective: To investigate the effects of single doses of a selective serotonin reuptake inhibitor (SSRI) on lower limb voluntary and reflex function in individuals with chronic stroke. Design: Double-blind, randomized, placebo-controlled crossover trial.
Gourab, Krishnaj +2 more
core +1 more source
Altered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 Deficiency
Abstract Background Allan‐Herndon‐Dudley syndrome (AHDS)/monocarboxylate transporter 8 (MCT8) deficiency is a rare X‐linked encephalopathy caused by SLC16A2 variants, impairing thyroid hormone (TH) transport into the brain. This leads to early central nervous system (CNS) TH deficiency, affecting brain maturation.
Fabio Bruschi +12 more
wiley +1 more source
‘What's in a Name?’ Naming Genetically Determined Movement Disorders: Gap and Controversy
Abstract In 2016, the International Parkinson and Movement Disorder Society (MDS) Task Force for Genetic Nomenclature in Movement Disorders laid out a new proposal for naming genetically determined movement disorders. This proposal sought to address the difficulties arising from the practical usage of numbered loci (eg, DYT1, DYT2, DYT3, etc.) as names
Connie Marras +19 more
wiley +1 more source
Smiling Tremor in a Patient with Essential Tremor
Movement Disorders Clinical Practice, EarlyView.
Justus Chunyu Chen +4 more
wiley +1 more source
Loss‐of‐Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia
Abstract Background Hereditary spastic paraplegias (HSPs) are neurodegenerative disorders characterized by lower‐limb spasticity. Pathogenic variants in CPT1C have been implicated in HSP. Objective The objective of this study was to assess whether CPT1C loss‐of‐function (LOF) variants are causally associated with HSP.
Rui Zhu +17 more
wiley +1 more source
Ultrasound Guidance to Augment Needle Electromyography Precision in the Complex Nerve Injury Setting
ABSTRACT The rise in popularity of nerve transfer surgery in individuals with peripheral nerve and spinal cord injuries has elevated the importance of the preoperative electrodiagnostic examination. Needle electromyography (EMG) provides peripheral nerve surgeons with precise information about donor and recipient muscle health, aiding in decisions ...
Nelson Saddler +4 more
wiley +1 more source

