Epigenome-wide meta-analysis of sex-differential DNA methylation in Parkinson’s disease
Objective: To comprehensively characterize the blood-based DNA methylation alterations related to sex in patients with Parkinson's disease (PD), shedding light on the underlying genes and…Impaired Nt-acetylation and the Golgi, a new disease mechanism leading to autosomal recessive primary familial brain calcifications
Objective: To identify new disease-gene in unsolved autosomal recessive primary familial brain calcifications. Background: Primary familial brain calcification (PFBC) is characterized by calcium deposition in the brain,…Exploring mitochondrial mechanisms defining Parkinson’s disease penetrance in LRRK2 G2019S neuronal cultures
Objective: We explored mitochondria as integrators of genetics and environment in LRRK2 G2019S neuronal models. Specifically, we aimed to unravel mitochondrial mechanisms that define the…Atypical Manifestations of Subacute Sclerosing Panencephalitis (SSPE): A Case Series from India
Objective: To report unusual manifestations Subacute Sclerosing Panencephalitis. Background: Subacute Sclerosing Panencephalitis (SSPE) is a slow viral infection caused by measles virus resulting in progressive…Automated parcellation of the cerebellum in patients with newly diagnosed Parkinson’s disease
Objective: Quantitatively evaluate the gross morphology of individual cerebellar lobules, determine whether cerebellar anatomical changes occur early in the disease and whether changes were related…The neuroprotective miRNA family hsa-miR-451 has a distinctive pattern of downregulation in neurodegenerative diseases.
Objective: 1.Identification of microRNAs from whole blood PBMCs of SCA2 patients by using NGS. 2.To check the exclusivity of miRNAs in SCA2, SCA1,SCA3,SCA12,HD,ALS,PD and MSA-C…Continuity and presence of side effects of continuous subcutaneous apomorphine infusion and levodopa-carbidopa intestinal gel infusion in advanced Parkinson’s disease, in a movement disorder unit in Spain
Objective: To determine the number of patients that maintain infusion therapies (continuous subcutaneous apomorphine infusion (CSAI) and levodopa-carbidopa intestinal gel (LCIG)) as treatment for advanced…Relationship between bradykinesia and cognitive functions in patients with essential tremor
Objective: To investigate the association between bradykinesia, i.e., movement slowness, as objectively assessed with kinematic analysis, and cognitive functions in ET. Background: Bradykinesia in essential…Efficacy and safety of deutetrabenazine in children and adolescents with dyskinesia in cerebral palsy
Objective: To evaluate the efficacy and safety of deutetrabenazine (DTBZ) in children and adolescents with dyskinesia in cerebral palsy (DCP). Background: There are currently no…Recruiting for Parkinson’s disease risk: Successful engagement tactics to screen for hyposmia in undiagnosed individuals
Objective: Describe recruitment tactics for engaging community in Parkinson’s disease remote risk screening Background: Early clinical markers of PD are critical to identifying biomarker signatures…
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