KMT2B episignature analysis identifies a probably hypomorphic missense variant in a family with dystonic and non-dystonic phenotypes
Objective: Recently, DNA methylation episignature analysis has been introduced as a tool enabling re-classification of “variants of uncertain significance“ (VUS) in lysine-specific methyltransferase 2B (KMT2B),…Preliminary data on multimodal approach for early characterization of Parkinson’s disease (PD) and Multiple System Atrophy (MSA), a prospective study with connected insoles
Objective: Early analysis to evaluate changes in gait parameters as assessed on standardized and ecological conditions and their association to markers of disease progression, i.e.,…The benefit of exclusive nocturnal administration of a levodopa-carbidopa intestinal infusion for severe refractory sleep behavior disorder in Parkinson’s disease
Objective: Treatment by continuous diurnal intestinal infusion of levodopa is effective in improving sleep quality in Parkinson's disease (PD), but its use exclusively at night…Risk of Long-term Care Admissions Among Medicare Patients Treated with Pimavanserin or Other Atypical Antipsychotics for Parkinson’s Disease Psychosis
Objective: To examine all-cause long-term care (LTC) admission risk among PDP patients treated with atypical antipsychotic (AAP). Background: Risk of LTC-admissions associated with off-label AAPs…Illusion of semi-inverted posture during High Frequency Ultrasound Stimulation thalamotomy for tremor
Objective: In this study, we focused on the transient sensation of being tilted along the vertical axis during MRI-guided focused ultrasound (MRgFUS) for tremor. We…Detection of Parkinson’s Disease by Analysis of Smooth Pursuit Eye Movements and Machine Learning
Objective: The present study investigates an automatic method to parameterize smooth pursuit eye movements (SPEM) and to differentiate Parkinson's disease (PD) from controls using machine…Heterozygous mutations in the Parkin gene – two different presentations of Parkinson’s disease
Objective: The main objective of this work is to present two Parkinson's disease (PD) patients with heterozygous mutations in the Parkin gene (PARK – parkin)…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…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…Anti-Ma2 Antibody Paraneoplastic Cerebellar Degeneration Associated with Renal Cell Carcinoma: A Case Report.
Objective: To highlight a unique case of Anti-Ma2 antibody paraneoplastic cerebellar degeneration (PCD) associated with renal cell carcinoma (RCC). Background: Paraneoplastic neurologic syndromes are a…
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