Categoría: Articulos
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Common genetic marker associated with faster Parkinson’s disease progression
A new study by investigators from the Mass General Brigham Neuroscience Institute has identified common genetic variants in the MC1R gene as markers of faster motor decline in people with Parkinson’s disease (PD). The findings, published in JAMA Neurol…
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Common genetic marker associated with faster Parkinson’s disease progression
A new study by investigators from the Mass General Brigham Neuroscience Institute has identified common genetic variants in the MC1R gene as markers of faster motor decline in people with Parkinson’s disease (PD). The findings, published in JAMA Neurol…
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The effect of pharmacological therapy on the nutritional status and body composition of children with spinal muscular Atrophy: a systematic review
Background Objective Methods Results …
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Craniofacial growth in Mulibrey nanism and impact of growth hormone treatment
Background Methods Results Conclusions …
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Craniofacial growth in Mulibrey nanism and impact of growth hormone treatment
Background Methods Results Conclusions …
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The effect of pharmacological therapy on the nutritional status and body composition of children with spinal muscular Atrophy: a systematic review
Background Objective Methods Results …
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Functional characterization of the 9q34.13 locus identifies RAPGEF1 as a candidate gene modulating risk for melanoma and nevi via RAS activation
At 9q34.13, melanoma and nevus risk-associated variants regulate RAPGEF1 and UCK1 expression in melanocytes. Functional studies showed that RAPGEF1 promotes melanocyte growth and RAS activation and is enriched in melanomas lacking RAS-MAPK activating m…
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Functional characterization of the 9q34.13 locus identifies RAPGEF1 as a candidate gene modulating risk for melanoma and nevi via RAS activation
At 9q34.13, melanoma and nevus risk-associated variants regulate RAPGEF1 and UCK1 expression in melanocytes. Functional studies showed that RAPGEF1 promotes melanocyte growth and RAS activation and is enriched in melanomas lacking RAS-MAPK activating m…