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Contribution of the GABAergic System to Non-Motor Manifestations in Premotor and Early Stages of Parkinson’s Disease
(Frontiers Media, 2019-10-30)
Non-motor symptoms are common in Parkinson's disease (PD) and they represent a major source of disease burden. Several non-motor manifestations, such as rapid eye movement sleep behavior disorder, olfactory loss, ...
Functional analysis of ankrd55, a multiple sclerosis risk gene with unknown function.
(2019-01-14)
El objetivo de este trabajo consiste en la caracterización de ANKRD55, un gen de función desconocida asociado a la esclerosis múltiple (EM). Para ello, por un lado, se realizó un análisis basado en DNA y expresión génica ...
Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease
(Public Library Science 15(6) : (2019) // Article ID e1008180, 2019-06-06)
Multiple sclerosis (MS) is an inflammatory disease of the central nervous system characterized by myelin loss and neuronal dysfunction. Although the majority of patients do not present familial aggregation, Mendelian forms ...
Interactome of the Autoimmune Risk Protein ANKRD55
(Frontiers Media, 2019-09-18)
The ankyrin repeat domain-55 (ANKRD55) gene contains intronic single nucleotide polymorphisms (SNPs) associated with risk to contract multiple sclerosis, rheumatoid arthritis or other autoimmune disorders. Risk alleles of ...
Enriched Environment Reverts Somatostatin Interneuron Loss in MK-801 Model of Schizophrenia
(Springer, 2019-09-10)
Dysregulation of the inhibitory drive has been proposed to be a central mechanism to explain symptoms and pathophysiological hallmarks in schizophrenia. A number of recent neuroanatomical studies suggest that certain types ...
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 ...
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 ...