A Homozygous Variant in NAA60 is Associated with Primary Familial Brain Calcification
Objective: To identify novel genes in autosomal recessive Primary Familial Brain Calcifications (PFBC).To identify novel genes in autosomal recessive Primary Familial Brain Calcifications (PFBC). Background:…Cardiovascular Risk Profile in Patients with Primary Familial Brain Calcification
Objective: To explore the cardiovascular risk profile of patients with Primary Familial Brain Calcification (PFBC) and Fahr’s syndrome. Background: PFBC, also known as Fahr’s disease,…Miniscope-based neural circuit profiling in freely behaving animals for preclinical therapeutic assessment
Objective: To advance translational research by revealing detailed relationships between neural circuit activity and behavioural symptoms in preclinical models Background: Conventional preclinical tests for CNS…Non motor symptoms assessment in Primary Familial Brain Calcification, survey on a cohort
Objective: Defining the burden of non-motor symptoms in Primary Familial Brain Calcification Background: PFBC is a rare neurodegenerative disorder of adulthood characterized by calcium deposition…The functional and lipidome signature of GBA1 mutant dopaminergic neurons
Objective: The work presented here aims to link the lipidome changes leading to functional defects, and eventual cell death, in GBA1 mutant dopaminergic neurons derived…LRRK2 I1371V Mutation: Unraveling Pathogenic Mechanisms in Dopaminergic Neurons via Membrane Fluidity & Calcium Dysregulation using PD Patient iPSCs
Objective: To estimate pathogenicity of LRRK2 I1371V mutation in PD patient iPSC-derived DA-neurons & assess underlying disease mechanisms involving membrane fluidity, Ca2+ dysregulation, & Rab8A/Rab10…iPSC-Based Modeling of SCA12 for Targeted Therapeutic Screening
Objective: 1. To identify a cohort of genetically confirmed SCA12 patients of Indian origin, derive iPSCs, progenitor cells and neurons from peripheral blood samples2. To…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…
- 1
- 2
- 3
- …
- 5
- Next Page »