8 Result(s)
within
Mauricio Arcos-Burgos
Neurology
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Article
Open AccessCorrection: Uveitis and Multiple Sclerosis: Potential Common Causal Mutations
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Article
Open AccessCTBP1 and CTBP2 mutations underpinning neurological disorders: a systematic review
C-terminal binding proteins (CtBP1/2) are transcriptional coregulators that play a significant role during vertebrate neurodevelopment. This systematic review aims to identify case reports with genetic variant...
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Article
Correction to: Ataxia with Ocular Apraxia Type 1 (AOA1) (APTX, W279* Mutation): Neurological, Neuropsychological, and Molecular Outlining of a Heterogenous Phenotype in Four Colombian Siblings
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Article
Ataxia with Ocular Apraxia Type 1 (AOA1) (APTX, W279* Mutation): Neurological, Neuropsychological, and Molecular Outlining of a Heterogenous Phenotype in Four Colombian Siblings
Hereditary ataxias are a group of devastating neurological disorders that affect coordination of gait and are often associated with poor coordination of hands, speech, and eye movements. Ataxia with ocular apr...
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Article
Open AccessFamilial Alzheimer’s Disease and Recessive Modifiers
Alzheimer’s disease (AD) is progressive brain disorder that affects ~ 50 million people worldwide and has no current effective treatment. AD age of onset (ADAOO) has shown to be critical for the identification...
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Article
Open AccessUveitis and Multiple Sclerosis: Potential Common Causal Mutations
Uveitis, defined as inflammation of the uveal tract of the eye, is a leading cause of blindness and visual impairment throughout the world. The etiology of uveitis is complex, and autoimmunity plays a major ro...
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Article
Open AccessTargeting Neuroplasticity, Cardiovascular, and Cognitive-Associated Genomic Variants in Familial Alzheimer’s Disease
The identification of novel genetic variants contributing to the widespread in the age of onset (AOO) of Alzheimer’s disease (AD) could aid in the prognosis and/or development of new therapeutic strategies foc...
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Article
Open AccessRole of the IL-1 Pathway in Dopaminergic Neurodegeneration and Decreased Voluntary Movement
Interleukin-1 (IL-1), a proinflammatory cytokine synthesized and released by activated microglia, can cause dopaminergic neurodegeneration leading to Parkinson’s disease (PD). However, it is uncertain whether ...
