Slow progressive neurocognitive impairment with Parkinsonism: A rare, adult-onset Neuronal Intranuclear Inclusion disease (NIID) case report
Objective: We described a case of a 62-years old lady with underlying diabetes and hypertension, presented with right upper intermittent resting tremor and stiffness for…Using wearable wireless technology to understand the natural history of adrenomyeloneuropathy in both clinic and home settings: 1-year follow-up in the CYGNET study
Objective: To assess the feasibility of using wearable wireless motion sensors to quantify disease progression in men with adrenomyeloneuropathy (AMN) enrolled in the CYGNET natural…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…
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