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Now showing items 171-179 of 179
Small fiber neuropathy and phosphorylated alpha-synuclein in the skin of E46K- SNCA mutation carriers
(Elsevier, 2019-06-05)
Background and objective: In 2004 we described the E46K mutation in alpha-synuclein gene (E46K-SNCA), a rare point mutation causing an aggressive Lewy body disease with early prominent non-motor features and small fiber ...
A functional variant that affects exon-skipping and protein expression of SP140 as genetic mechanism predisposing to multiple sclerosis
(Oxford University Pres, 2015-10-01)
Several variants in strong linkage disequilibrium (LD) at the SP140 locus have been associated with multiple sclerosis (MS), Crohn's disease (CD) and chronic lymphocytic leukemia (CLL). To determine the causal polymorphism, ...
Blood miRNA expression pattern is a possible risk marker for natalizumab-associated progressive multifocal leukoencephalopathy in multiple sclerosis patients
(Sage, 2014-05-22)
Background: Natalizumab has shown its efficacy in reducing multiple sclerosis (MS) relapses and progression of disability; however, it has been associated with an increased risk of developing progressive multifocal ...
Autonomic dysfunction is associated with neuropsychological and neuropsychiatric impairment in patients with Lewy body diseases
(Springer-Verlag GmbH Germany, 2020-03-13)
Objective: This study aimed to analyze the association of autonomic dysfunction with cognition, depression, apathy, and fatigue in Lewy body disease (LBD).
Methods: We included 61 patients [49 with idiopathic Parkinson’s ...
Effects of adult enriched environment on cognition, hippocampal- prefrontal plasticity and NMDAR subunit expression in MK-801- induced schizophrenia model
(Elsevier, 2019-05-01)
Schizophrenia is a mental disorder characterized by psychosis, negative symptoms and cognitive impairment. Cognitive deficits are enduring and represent the most disabling symptom but are currently poorly treated. N-methyl ...
Microglial immune response is impaired against the neurotropic fungus Lomentospora prolificans
(Wiley, 2018-03-26)
Lomentospora (Scedosporium) prolificans is an opportunistic pathogen capable of causing invasive infections in immunocompromised patients. The fungus is able to disseminate via the bloodstream finally arriving at the central ...
Pharmacogenetics of MicroRNAs and MicroRNAs Biogenesis Machinery in Pediatric Acute Lymphoblastic Leukemia
(Public Library Science, 2014-03-10)
Despite the clinical success of acute lymphoblastic leukemia (ALL) therapy, toxicity is frequent. Therefore, it would be useful to identify predictors of adverse effects. In the last years, several studies have investigated ...
Age‐related cognitive decline in myotonic dystrophy type 1: An 11‐year longitudinal follow‐up study
(Wiley, 2020-03)
Background Myotonic dystrophy type 1 (DM1) is an inherited multi-systemic disease involving the central nervous system (CNS) and is consequently characterized by a range of cognitive impairments. However, whether this ...
Embodied Pain In Fibromyalgia: Disturbed Somatorepresentations And Increased Plasticity Of The Body Schema
(Public Library Science, 2018-04-06)
Fibromyalgia syndrome (FMS) is a highly prevalent, chronic musculoskeletal condition characterized by widespread pain and evoked pain at tender points. This study evaluated various aspects of body awareness in a sample of ...