MONTERO SÁNCHEZ , Adoración

The striatum integrates motor behavior using a well‐defined microcircuit whose individual components are independently affected in several neurological diseases. The glial cell line‐derived neurotrophic factor (GDNF), synthesized by striatal interneurons, and Sonic hedgehog (Shh), produced by the dopaminergic neurons of the substantia nigra (DA...

Age-related macular degeneration (AMD) is the leading cause of adult blindness in developed countries and is characterized by progressive degeneration of the macula, the central region of the retina. A human induced pluripotent stem cell (hiPSC) line was derived from peripheral blood mononuclear cells (PBMCs) from a patient with a clinical...

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Método para obtener información útil para el diagnóstico de enfermedades neuromusculares. Procedimiento para obtener, a partir de la biopsia de un paciente, nuevos parámetros que permiten diagnosticar de manera objetiva diferentes enfermedades neuromusculares y su grado de afectación al paciente, que comprende: - realizar una tinción de la...

Mutations in pre-mRNA splicing factor PRPF31 can lead to retinitis pigmentosa (RP). Although the exact disease mechanism remains unknown, it has been hypothesized that haploinsufficiency might be involved in the pathophysiology of the disease.