Results 91 to 100 of about 366,723 (337)

Synaptotagmins in Neurodegeneration [PDF]

open access: yesThe Anatomical Record, 2009
AbstractSynaptotagmins (Syts) are transmembrane proteins involved in the regulation of membrane trafficking. Here, we summarize literature data that provide growing evidence that several Syts are involved in the pathophysiological mechanisms of temporal lobe epilepsy and Parkinson's disease, as well as few reports related to brain ischemia and ...
Gordana Glavan   +2 more
openaire   +3 more sources

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis [PDF]

open access: yes, 2010
Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects 85% mutations in infantile neuroaxonal dystrophy.
Brady, Angela F   +14 more
core   +1 more source

Fixel‐Based Analysis of Diffusion Imaging as a Quantitative Marker of Disease State in Spinocerebellar Ataxia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxias (SCAs) are a group of genetically heterogeneous neurodegenerative diseases causing progressive deterioration and reduced quality of life. Therapeutic advances have been limited by a lack of sensitive anatomic, functional, or diffusion imaging‐based biomarkers.
David J. Arpin   +11 more
wiley   +1 more source

A chlorzoxazone–folic acid combination improves cognitive affective decline in SCA2-58Q mice

open access: yesScientific Reports, 2023
Spinocerebellar ataxia type 2 (SCA2) is a polyglutamine disorder caused by a pathological expansion of CAG repeats in ATXN2 gene. SCA2 is accompanied by cerebellar degeneration and progressive motor decline.
Ksenia S. Marinina   +2 more
doaj   +1 more source

Promoting tau secretion and propagation by hyperactive p300/CBP via autophagy-lysosomal pathway in tauopathy. [PDF]

open access: yes, 2020
BackgroundThe trans-neuronal propagation of tau has been implicated in the progression of tau-mediated neurodegeneration. There is critical knowledge gap in understanding how tau is released and transmitted, and how that is dysregulated in diseases ...
Arkin, Michelle   +13 more
core  

Correlation Between Irisin and Cognitive Functions in Alzheimer Dementia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The myokine irisin, a recent positive mediator of exercise in the brain, shows neuroprotective functions against Alzheimer's disease (AD). The association between irisin and cognition has never been explored in a biologically defined cohort of patients.
Patrizia Pignataro   +12 more
wiley   +1 more source

Behavioral defects associated with amygdala and cortical dysfunction in mice with seeded α-synuclein inclusions

open access: yesNeurobiology of Disease, 2020
Parkinson's disease (PD) is defined by motor symptoms such as tremor at rest, bradykinesia, postural instability, and stiffness. In addition to the classical motor defects that define PD, up to 80% of patients experience cognitive changes and psychiatric
Lindsay E. Stoyka   +9 more
doaj  

Timing and Predictive Value of Clinical Conditions Preceding Multiple Sclerosis in the UK Biobank

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Multiple sclerosis (MS) patients often experience a higher incidence of clinical conditions before diagnosis, suggesting a prodromal phase. However, their predictive value and temporal trajectories remain underexplored. We investigated these aspects using the large UK Biobank's population‐based cohort, which provided clinical ...
Andrea Nova   +5 more
wiley   +1 more source

Neuroprotective effects of the immunomodulatory drug FK506 in a model of HIV1-gp120 neurotoxicity. [PDF]

open access: yes, 2016
BackgroundHIV-associated neurocognitive disorders (HAND) continue to be a common morbidity associated with chronic HIV infection. It has been shown that HIV proteins (e.g., gp120) released from infected microglial/macrophage cells can cause neuronal ...
Achim, Cristian   +9 more
core   +1 more source

The Comparative Effectiveness and Tolerability of Sphingosine‐1‐Phosphate Receptor Modulators in Patients With Multiple Sclerosis: A Network Meta‐Analysis of Randomized Controlled Trials

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Sphingosine‐1‐phosphate receptor modulators (S1PRM) are used to treat relapsing multiple sclerosis (MS). Each drug has a different S1PR‐subtype selectivity. They target the G‐protein coupled S1P receptors and exert significant immunomodulatory effects, such as preventing the formation of new CNS lesions and the reactivation of pre ...
Faizan Shahzad   +8 more
wiley   +1 more source

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