Autosomal recessive ataxia due to ANO10 mutations; full and novel phenotypic data in an Irish pedigree
Objective: We report on a family with ataxia due to mutations in the ANO10 gene to provide comprehensive clinical and cognitive data on the associated…Clinical and imaging characteristics of spinocerebellar ataxia type 14 defined in a German multi-center sample
Objective: To give a concise description of clinical and imaging features of spinocerebellar ataxia type 14 (SCA14). Background: Since its genetic definition in 2003, the…A randomized double-blind placebo- and positive-controlled crossover study to evaluate the effects of single doses of SD-809 (deutetrabenazine) and tetrabenazine on the corrected QT interval
Objective: Evaluate the pharmacokinetics and pharmacodynamics (QTc) of SD-809 (deutetrabenazine) and tetrabenazine. Background: SD-809 is a VMAT-2 inhibitor in clinical development for treatment of hyperkinetic…Dysregulations of GABAergic neurotransmission in Huntington’s disease brain
Objective: To investigate (1) the expression of GABAA receptors and KCC2 in both Huntington's disease (HD) mouse models and patients and (2) the inhibitory effect…Enroll-HD: A global clinical research platform for Huntington’s disease
Objective: To provide an update on the global observational registry study of Huntington's disease (HD) included in Enroll-HD, a platform for HD clinical research. Background:…Brain network imaging findings in multiple system atrophy with cognitive decline
Objective: In this study we examined the voxel-based morphometry (VBM), diffusion tensor imaging (DTI), and resting functional MRI (rsfMRI) of the multiple system atrophy (MSA)…Frontal lobe white matter atrophy correlates with disability in spastic paraplegia type 11 (SPG11)
Objective: To evaluate in vivo signs of gray matter (GM) and white matter (WM) abnormalities, through an unbiased neuroimaging method, in a large cohort of…Inferring the causal interplay of motor related brain areas in the aging brain: A dynamic causal modeling (DCM) approach
Objective: To investigate the causal interplay of brain areas during the performance of a complex bimanual motor task in young and elderly subjects. Background: Coordination…Resting state functional connectivity in olfactory network in de novo Parkinson’s disease
Objective: To assess the pattern of RS functional connectivity in PD patients, related to olfactory psychometric test, to elucidate olfactory-dependent cortical-subcortical functional networks. Background: Olfactory…Predictive performance of EEG theta spectral power over developing dementia in Parkinson’s disease
Objective: To investigate whether changes in EEG power spectra could predict development of dementia in Parkinson's disease (PD-D). Background: Different research groups have reported, that…
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