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…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…In Silico Study Reveals Cocaine Exposure Modulates Dopamine Neuron Firing Patterns by Inhibiting Small Conductance Calcium Activated Potassium Current
Objective: The neurological reason behind the loss of dopamine neurons causing Parkinson’s disease (PD) is an unsolved mystery. Background: As PD is identified as a…Symptomatic brain calcifications in two patients with JAM2 monoallelic variants.
Objective: To describe two subjects carrying monoallelic JAM2 genetic variant associated with brain calcification. Background: Primary Familial Brain Calcification (PFBC) is a rare neurodegenerative disorder…Cognitive profiling in a cohort of Primary Familial Brain Calcification (PFBC) patients
Objective: To investigate neuropsychological and behavioural profile of PFBC patients. Background: PFBC is a rare genetic neurodegenerative disorder characterized by abnormal calcium phosphate deposition basal…Induction of Parkinsonian-like changes via targeted down-regulation of astrocytic glutamate transporter GLT-1 in the striatum
Objective: The aim was to explore the function and mechanism of astrocytic GLT-1 in PD-like changes. Background: Numerous researches suggest decreased expression of glutamate transporter-1…Vitamin D and Parkinson’s disease
Objective: to study the correlation between vitamin D levels (deficiency) and clinical presentations in patients with Parkinson’s disease Background: previous studies throughout the world have…
