Unravelling Hidden Mutations Behind the Heterozygos SYNE1 Genotype
Objective: To present case series of four patients of heterozygous for SYNE1 mutation with phenotype consistent with cerebellar ataxia. Background: Recessive cerebellar ataxias are defined as disorders with autosomal recessive…Comorbid neuropathological features in multiple system atrophy
Objective: To elucidate the distribution of comorbid neuropathology in multiple system atrophy (MSA) and its clinical correlation. Background: Multiple protein accumulations are often present in…A Scoping Review of Multidisciplinary Care in Tourette Syndrome
Objective: To review current multidisciplinary care practices in patients with Tourette syndrome (TS). Background: Individuals with TS can have multiple symptoms and co-morbidities and require…The mGlu2 positive allosteric modulator BINA extends enhances low dose L-DOPA anti-parkinsonian action in the MPTP-lesioned marmoset
Objective: To determine the effect of positive allosteric modulation of the metabotropic glutamate type 2 (mGlu2) receptor in the 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-lesioned marmoset using a low…Non-dopaminergic system is related with motor reserve in Parkinson’s disease
Objective: To find related brain structures with the motor reserve in Parkinson's disease (PD). Background: There is a discrepancy between the severity of parkinsonism and dopaminergic…Movement Disorders in Hereditary Spastic Paraplegia (HSP): A Systematic Review and Individual Participant Data Meta-Analysis
Objective: To investigate genotype-phenotype associations in hereditary spastic paraplegia (HSP) with a focus on movement disorders. Background: HSP is a rare genetically-driven disorder associated with…Dopaminergic modulation of express reaching responses in Parkinson’s disease
Objective: This study investigates the role of dopamine (DA) in modulation of automatic stimulus-driven responses. We investigated the effect of PD, DA medication, and instruction…Evaluation of hyperintense globus pallidus rim sign in seven-tesla MRI as a diagnostic biomarker in Wilson’s disease
Objective: We aim to study the sensitivity and specificity of hyperintense globus pallidus rim sign in WD diagnosis. Background: The diagnosis of Wilson disease (WD)…Perceptions of Palliative Care in Huntington’s Disease
Objective: This study aims to identify perceptions of palliative care in Huntington’s Disease (HD), palliative care needs of patients with HD, and at what point…Parkinson’s Progression Markers Initiative (PPMI) Online expands biomarker research in Parkinson’s disease (PD)
Objective: To establish a large, longitudinal online cohort linked with a selected, intensively assessed cohort of people with and without PD to characterize development and…
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