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NFU1-Related Disorders as Key Differential Diagnosis of Cavitating Leukoencephalopathy
(Georg Thieme Verlag Kg, 2018)
Genetic leukoencephalopathies represent an expanding group of inherited disorders associated with involvement of brain white matter. Cystic degeneration has been previously described with some acquired or inherited ...
A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations
NDUFV1 mutations have been related to encephalopathic phenotypes due to mitochondrial energy metabolism disturbances. In this study, we report two siblings affected by a diffuse leukodystrophy, who carry the NDUFV1 c.1156C>T ...
004 - A Novel Familial Case of Diffuse Leukodystrophy Related to NDUFV1 Compound Heterozygous Mutations
Introduction: Mitochondrial leukodystrophy due to complex I deficiency is an entity with high genetic heterogeneity, the mutations of the gene NDUFV1 being one of the causes of this disease. It is an autosomal recessive ...
Efecto de agonistas PPARs E IGF1 en modelos In Vitro de Leucodistrofias
(2019-09-03)
RESUMEN: Los oligodendrocitos son células gliales altamente especializadas del sistema nervioso central (SNC) encargadas de la formación de la mielina, la cual envuelve los axones de las neuronas y contribuye a la eficiencia ...
Rna Biomarkers In Schizophrenia
(Springer US, 2009)
Identificación de factores de transcripción de unión directa a la región promotora de STOX1
(Universidad del RosarioMaestría en Ciencias con Énfasis en Genética HumanaFacultad de medicina, 2018)