Movement disorders in children with neurometabolic and neurodegenerative disorders: A single-center prospective study
Objective: To analyze the prevalence, patterns and severity of movement disorders in children with genetically proven neurometabolic and neurodegenerative diseases. Background: Movement disorders are often…Effects of a small molecule angiotensin IV analog on Huntington’s disease animal model
Objective: The present study was designed to test if N-hexanoic-Tyr-Ile-(6)-amino hexanoic amide (AngIV-6a), an angiotensin IV analog, could attenuate 3-nitropropionic acid-induced Huntington’s disease-like symptoms in…Generalized dystonia and spasticity: The fault in the mitochondria
Objective: To analyze the pattern of movement disorder in a child with mitochondrial respiratory chain disorder Background: Secondary movement disorders are often a clue to…Impaired CaMKII/ERK activation in mouse mutant LRRK2 R1441G fibroblasts was associated with reduced mitochondrial calcium store and efflux in response to depolarization stress
Objective: To determine the molecular link of LRRK2R1441G mutation to impaired CaMKII/ERK signaling under mitochondrial depolarization stress using mutant mouse embryonic fibroblast (MEF) model of…Sub-cellular alterations in MPTP-induced in-vivo and in-vitro systems and Non-MPTP human Parkinsonian skin biopsies: Verifying the sequelae of differential toxicity
Objective: To evaluate the possible temporal hierarchy of sub-cellular organellar degeneration in experimental models of Parkinson’s disease (PD), using MPTP/MPP+ Background: Higher prevalence of PD in…Metabolic modulation of mitochondrial DNA release in cellular models of Parkin-associated Parkinson’s disease
Objective: Our objective in this study was to elucidate the mechanisms underlying the release of mtDNA in cellular models of Parkin-associated Parkinson’s disease and to…A novel, population-specific PINK1 p.F385S loss of function mutation in an Indian family with Parkinson’s disease
Objective: To understand the molecular function of a novel missense PINK1 variant identified in an Indian family with Parkinson’s disease (PD). Background: The molecular understanding…Impacts of mutations in Parkinson’s disease-related genes on telomere maintenance
Objective: To investigate the correlation between telomere length (TL) and Parkinson’s disease (PD), and whether the change in telomere biology participates in PD pathogenesis. Background:…Multiple N-of-1 trials to investigate hypoxia therapy in Parkinson’s disease: TALISMAN study rationale and protocol
Objective: This is the first study that will assess the potential impact of hypoxia-based therapy in individuals with PD on respiratory parameters and PD symptoms.…The overexpression of a-SYN leads to a differential process of mitophagy in neurons and atrocytes
Objective: To determine the role of the different mitophagy pathways involved in PD, a key question that is still unresolved. We will investigate whether a-synuclein…
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