18 research outputs found
Individual-level predictors of inpatient childhood burn injuries: a case–control study
Skewed X-chromosome inactivation causing diagnostic misinterpretation in congenital nephrogenic diabetes insipidus
The psychological sequelae on mothers of thermally injured children and adolescents: Future directions: Part 3
Visceral Fat and Body Composition Changes in a Female Population After RYGBP: a Two-Year Follow-Up by DXA
The Genetics of Myelination in Metabolic Brain Disease: The Leukodystrophies
The formation of brain myelin is of paramount importance to the proper development, survival and functioning of neurons. Myelination, consequently, is a highly regulated process dependent on the expression and temporal regulation of many genes, proteins and metabolites, as well as an adequate nutritional environment to support the postnatal brain growth spurt. Consequently, myelination is vulnerable to a wide range of perturbations. Reviews of the mechanisms and effects of myelin disorders are numerous. Here, the focus is specifically on genetic mutations affecting various cellular compartments in neuronal cells that result in either demyelination or dysmyelination. Collectively, these diseases, categorized as leukodystrophies, represent an ongoing public health problem in both developed and developing nations