PFBC and dystonia: description of a cohort and peculiar cases
Objective: To describe dystonia in a PFBC cohort Background: Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder characterized by calcium deposition in basal…Tongue fasciculations and numbness: A case of calcifying pseudoneoplasm
Objective: To describe a 61-year-old female who presents with abnormal tongue movement found to have right frontoparietal calcifying pseudoneoplasm of the neuraxis (CAPNON). Background: CAPNON…Representation of movement repertoire in subthalamic neural circuits using a markerless 3D behavioral tracking system.
Objective: This study aimed to investigate the spatiotemporal encoding of neurons in the subthalamic nucleus using a mouse model. Background: The subthalamic nucleus is a…Quantitative investigation of the pathway between dopamine receptors and Ca2+ channels in layer II stellate cells towards Parkinson’s disease
Objective: Recent experimental data suggest a putative coupling between dopamine D2 receptors (D2R) and T-type Ca2+ channels as another biophysical explanation for the firing pattern…Impaired CaMKII/ERK activation in mouse mutant LRRK2 R1441G fibroblasts was associated with reduced mitochondrial calcium store and efflux in response to depolarization stress
Objective: To determine the molecular link of LRRK2R1441G mutation to impaired CaMKII/ERK signaling under mitochondrial depolarization stress using mutant mouse embryonic fibroblast (MEF) model of…Autosomal recessive Primary Familial Brain Calcification caused by MYORG mutations. Two unrelated cases from the south of Chile
Objective: To describe two unrelated cases of AR- PFBC with mutations in MYORG gene. Background: Primary Familial Brain Calcification (PFBC) is a rare neurogenetic disorder…Design of a Phase 2 Study of Suvecaltamide in Moderate to Severe Parkinson’s Disease Tremor
Objective: Describe the design of a phase 2 study (NCT05642442) of a once-daily, extended-release formulation of suvecaltamide to treat moderate to severe Parkinson’s disease tremor…Bone Health in Parkinson’s Disease
Objective: Optimise bone health in people with Parkinson’s Disease Background: People with Parkinson’s Disease (PD) have an increased risk of osteoporosis and associated fractures due…Exome sequencing of 584 Chinese proband with brain calcification
Objective: The aim of this study is to evaluate the diagnostic value of whole exome sequencing in Chinese patients with brain calcification, and to provide exome sequencing-based insights into the genetic…Calcium phenotype in cellular models of VPS13A disease
Objective: Since the Membrane contact sites (MCS) between ER and mitochondria are of particular importance for cellular calcium homeostasis, we hypothesize that MCS dysfunction in…
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