Paroxismal Torticollis Revealing Cervical disc Calcifications in a Child About a Case
Objective: Cervical dystonia in children is rare compared to adults (1), and is often of sequelae or genetic origin (1). The objective of our work…A Novel Homozygous Variant in MYORG is Associated with Primary Brain Calcification and Paroxysmal Dyskinesia
Objective: To report a novel homozygous MYORG mutation causing primary brain calcification (PBC) with paroxysmal dyskinesia and evaluate its functional pathogenicity. Background: PBC is a monogenic…A Phase 3, Multinational, Randomized, Placebo-Controlled, Double-Blind, Crossover Trial (IB1001-304) Evaluating Levacetylleucine in CACNA1A Disorders
Objective: To assess the efficacy, safety, and tolerability of levacetylleucine in people with CACNA1A disorders. Background: CACNA1A disorders refer to a range of rare, progressive,…Calcification Foci Caused by Gene Defects in Primary Brain Calcification May Originate from Matrix Vesicle
Objective: We used cellular and mouse models to explore the subcellular origin of calcification foci caused by primary brain calcification (PBC) gene defects (SLC20A2 and XPR1). Background: PBC…Quantifying longitudinal clinical trajectories of disease progression and prognosis in Primary Brain Calcification, the Padua PBC-cohort experience
Objective: To characterize longitudinal progression of motor and neuropsychological symptoms in PBC and to identify predictors of disease prognosis Background: Primary Brain Calcification (PBC) is…Response to symptomatic therapy in Primary Brain Calcification: a cohort survey
Objective: To assess therapy response in a PBC cohort Background: Primary Brain Calcification (PBC) is a neurodegenerative disorder characterized by calcium deposition in the brain…In Silico Investigation of Dopamine Receptor–Calcium Channel Coupling in Subthalamic Nucleus Neurons: Implications for Parkinson’s Disease Therapy
Objective: Parkinson’s disease (PD) is characterized by disrupted dopaminergic signaling within the basal ganglia circuitry, particularly affecting the activity of subthalamic nucleus (STN) neurons [1,…Clinical–Radiological Correlation in Patients with brain calcifications: a case series
Objective: The aim of this study was to describe a series of patients with brain calcifications within the Fahr spectrum and to analyze their clinical–radiological…Genetic Architecture Of Intracranial Brain Calcification: A Systematic Review
Objective: To systematically identify monogenic disorders associated with intracranial intraparenchymal brain calcification and synthesise their clinical, radiological and molecular features. Background: Brain calcification is a…Automatic Quantification of Basal Ganglia Calcification Burden in Chinese Population
Objective: To develop an automated algorithm for precise quantification of basal ganglia calcification burden based on CT scans in Chinese population. Background: Basal ganglia calcification…
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