Applying the COM-B model to identify potential barriers for in-person on-site visits within the Healthy Brain Ageing (HeBA) study in Luxembourg
Objective: This study aims to (1) apply the Capability, Opportunity, and Motivation model of Behaviour (COM-B) to the HeBA online survey to identify potential barriers that could…Consanguinity is the key player in complexity of Mendelian form of neurodegeneration with brain iron accumulation in Pakistan
Objective: In the current work, we recognized big inbreed Pakistani family with autosomal recessive NBIA containing several affected individuals. Aim of the research work was…Huntington’s disease-like 2 phenotypes: a case series from a Brazilian referral center
Objective: To describe the clinical phenotypes of Huntington’s disease-like 2 patients in a referral movement disorders (MD) center in Brazil. Background: Huntington's disease-like 2 (HDL2)…Familial Parkinson’s: Epidemiological data at Blida University Hospital.
Objective: In Algeria, few epidemiological data published on PD. The objective of this work is to study the epidemiological aspects of familial parkinson (PF) at…Correlation between neurological phenotype, neuroimaging and clinical outcome in a single centre Wilson disease cohort.
Objective: Correlate brain MRI features with the clinical phenotype and outcomes in chronically treated Wilson Disease (WD). Background: Neurological WD is characterised by a variety…Establishing a Natural History of X-linked Dystonia Parkinsonism
Objective: Our main objective is to establish a comprehensive, quantitative assessment of movement dysfunction and bulbar motor impairments that are sensitive and specific to disease…Multimodal imaging analysis of autosomal recessive Parkinson’s disease.
Objective: To explore whether autosomal recessive forms of monogenic PD (mPD) might lead to cortical and white matter (WM) abnormalities in addition to dopaminergic denervation.…Preparing for a clinical trial: a run-in natural history study in POLR3A-associated spastic ataxia with intronic mutations amenable to splice-modulating therapeutic approaches
Objective: The aim of this study is the identification of progression and treatment response outcomes for POLR3A-associated spastic ataxia caused by the recurrent intronic c.1909+22G>A…Kufor-Rakef syndrome, report of two unrelated cases from Chile studied with DAT-PET
Objective: To describe two previously unreported, unrelated cases of atypical parkinsonism caused by mutations in ATP13A2gene. Background: ATP13A2 gene, previously known as PARK 9, has recently…Using Long read sequencing to identify complex structural variants in PRKN-PD
Objective: Identify complex structural variants in PRKN gene from Parkinson’s disease patients. Background: PRKN is the most frequent causative gene in young onset Parkinson's disease…
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