Adult-onset Alexander’s disease – New causal mutation in GFAP gene
Objective: In the present study we describe a new mutation (p.L58P) in the GFAP gene and its functional consequences causing a phenotype with adult-onset Alexander’s…MR imaging features of Dentatorubral-pallidoluysian atrophy (DRPLA): a case report
Objective: To describe MRI signs suggestive of dentatorubral-pallidoluysian atrophy (DRPLA) that may warrant genetic testing. Background: Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare autosomal dominant neurodegenerative…Neuroanatomical underpinnings of apathy in Parkinson’s Disease
Objective: To investigated the integrity of white matter tracts within basal ganglia-frontal networks in PD patients with and without apathy, and relate these to specific…Noninvasive focal delivery of Adeno Associated Vectors (AAV) with magnetic resonance-guided focused ultrasound in non-human primates
Objective: Focal brain delivery of gene therapy in non-human primates is a major step towards the translation of this technology for use in humans. We…Deterioration in Wilson’s Disease despite treatment. Are the neuroimaging findings useful as prognostic factor?
Objective: To describe the neuroimaging findings and their importance in the prognosis during the treatment. Additionally, to describe the state of art of the treatment.…An automated AI-based framework for putamen volume measurement in MSA
Objective: The putamen is a difficult structure to segment accurately, and automated methods require manual editing to improve segmentation accuracy. Our aim was to test…White matter structural network of motor reserve in early Parkinson’s disease
Objective: This study aims to explore the white matter structural network associated with motor reserve (i.e., individual capacity to cope with nigrostriatal dopamine depletion) in…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…Diffusion MRI tractometry findings in Dystonia- A UK Biobank study
Objective: To compare key white matter motor pathways between those diagnosed with dystonia and unaffected controls, using data collected by the UK Biobank, processed and…Cerebellar and other motor symptoms relationship with MRI features in Huntington disease.
Objective: To analyze the relationship between motor scales and brain magnetic resonance imaging (MRI) features in a cohort of Huntington disease (HD) patients. Background: Cerebellar…
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