Differential temporal dynamics of axial and appendicular ataxia in SCA3
Objective: To investigate the temporal dynamics of Scale for the Assessment and Rating of Ataxia (SARA) item scores in patients with spinocerebellar ataxia type 3…Case reports of first experiences worldwide with novel continuous oral levodopa dental pump in Parkinson’s Disease Patients
Objective: To assess the safety, tolerability, and pharmacokinetics (PK) of a novel continuous levodopa-carbidopa oral pump (LCOP) delivery system in patients with early PD. Background:…Transauricular Vagus Nerve Stimulation (taVNS) for mild to moderate Parkinson’s Disease (PD)
Objective: We evaluated feasibility, safety, and preliminary efficacy of taVNS for motor and non-motor symptoms in mild to moderate PD. Background: Neuronal loss in the…Synaptic density in cortical and subcortical gray matter is associated with mild parkinsonian signs (MPS) in healthy older adults: a [11C] UCB-J PET study
Objective: to investigate if a reduction in cortical and subcortical synaptic density measured in vivo with the synaptic vesicle protein 2A (SV2A) binding [11C] UCB-J…Cognitive performances and autonomic dysfunction in MSA patients
Objective: This study aims to assess the cardiovascular autonomic profile in patients suffering from either MSA-P or MSA-C, and subsequently to explore a potential link…Lingual dystonia etiology spectrum in a tertiary center
Objective: To describe a group of patients with LP regarding clinical presentation, etiology, and treatment. Background: Lingual dystonia (LD) is a rare, disabling and difficult…Circadian cycle and disease phenotype in Parkinson’s disease, insights by motion sensors and molecular biology.
Objective: Our aim is to investigate whether the circadian cycle (CC) is linked to the patient Parkinson's disease (PD) profile on a clinical and molecular…Patterns of TDP-43 Deposition in Brains with LRRK2 G2019S Mutations
Objective: To systematically examine the Columbia University LRRK2 brain bank for TDP-43 deposits Background: LRRK2 G2019S mutations have been associated with parkinsonism and a wide range of…Motor, epileptic, and developmental phenotypes in genetic disorders affecting G-protein coupled receptor signaling and cAMP metabolism
Objective: To provide a detailed clinical characterization of genetic disorders affecting G-protein coupled receptor signaling and cAMP metabolism Background: Genetic disorders affecting G-protein coupled receptor (GPCRs) signaling…DBS for a patient with KMT2B-SHANK2 related dystonia
Objective: Describe a case of deep brain stimulation (DBS) outcome for a patient with pathogenic variants of Shank2 and KMT2B genes. Background: Prior reports have…
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