Motor, epileptic, and developmental phenotypes in genetic disorders affecting G-protein coupled receptor signaling and cAMP metabolism
Objective: To provide a detailed clinical characterization of genetic disorders affecting G-protein coupled receptor signaling and cAMP metabolism Background: Genetic disorders affecting G-protein coupled receptor (GPCRs) signaling…DBS for a patient with KMT2B-SHANK2 related dystonia
Objective: Describe a case of deep brain stimulation (DBS) outcome for a patient with pathogenic variants of Shank2 and KMT2B genes. Background: Prior reports have…Improvement of masticatory muscles’ pain versus tenderness via electromyography biofeedback training in patients with bruxism.
Objective: To determine if masticatory muscles’ pain and tenderness in bruxers should be treated independently. Background: Bruxism is a movement disorder with marked hyperactivity in the…Association between thyroid dysfunction and severity of depression in de novo patients with Parkinson’s disease
Objective: This study aimed to evaluate the association between thyroid disturbances and severity of depression in de novo PD patients Croatian residents. Background: Thyroid disease…Knowledge and attitude of Egyptian general public towards Parkinson disease: A cross-sectional study in Egypt.
Objective: We aim to investigate the public Egyptian knowledge and attitude towards PD. Background: In Egypt, the PD prevalence reached 316.50 per 100,000 people. Given…Endocannabinoid Dysfunction in Human Disease: Neuro-Ocular DAGLA-related Syndrome (NODrS), a unique pediatric condition
Objective: To define a new pediatric movement disorder and conclusively link the endocannabinoid system to human disease. Background: The endocannabinoid system is a highly conserved…PLA2G6-related dystonia-parkinsonism in identical twins manifesting at an advanced age: a case report and review of the literature.
Objective: To report a rare presentation of a rare disease and illustrate the range of phenotype seen in PLA2G6-associated dystonia-parkinsonism (PLADP). Background: PLA2G6 encodes a…Randomized, Double-Blind, Placebo-Controlled, Phase 2b Study of Ecopipam in Children and Adolescents with Tourette Syndrome
Objective: Evaluate the efficacy and safety of ecopipam in children and adolescents with Tourette’s Syndrome (TS). Background: Ecopipam, a first-in-class selective dopamine-1 (D1) receptor antagonist…Current Concepts in Physical Therapy and Rehabilitation Protocol for Camptocormia: An Unusual Case Report
Objective: To investigate symptoms observed in patients with Parkinson’s Disease with camptocormia and prepare a protocol for physical therapy in addition to medical and surgical…Within patient comparison of neurostimulator longevity; sequentially contrasting the Medtronic Activa PC to the Medtronic Percept PC utilizing in-device battery estimates
Objective: To examine the differences between Actual Activa PC longevity and the estimated longevity of the Percept PC, utilizing identical contact configurations and programming parameters.…
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