Inherited abnormalities affecting the nervous system: genetic and psychiatric aspects
نویسندگان
چکیده
منابع مشابه
Diagnosis of inherited metabolic disorders affecting the nervous system.
Knowledge of the molecular causes for genetic diseases that affect the nervous system is rapidly expanding. Especially striking has been the finding in several autosomal dominant neurodegenerative disorders that unstable expansions of trinucleotide repeats are responsible for the genetic disorder and that the length of the repeat can be correlated with the age of onset and the severity of sympt...
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Mutations in the human genes for the adhesion molecules Po, L1, and merosin cause severe abnormalities in nervous system development. Po and merosin are required for normal myelination in the nervous system, and L1 is essential for development of major axon pathways such as the corticospinal tract and corpus callosum. While mutations that lead to a loss of the adhesive function of these molecul...
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ژورنال
عنوان ژورنال: Biochemical Journal
سال: 1969
ISSN: 0306-3283
DOI: 10.1042/bj1110009p