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- W2914242207 abstract "Genetic modifiers make a significant contribution to the pathophysiology of neurological disease. A common feature of heritable neurological disease is phenotype variation among patients with the same mutation. Some of the observed phenotype variation can be attributed to genetic modifiers. Identifying modifier genes in humans is challenging due to limitations of sample size and confounding environmental effects. Complementary approaches in model organisms can facilitate the identification and characterisation of modifier genes. Identifying genetic modifiers can help elucidate the genetic and molecular basis of neurological disease. This knowledge can be used to improve genetic risk assessment and foster the development of personalised therapeutic strategies based on molecular diagnosis.Key Concepts: Genetic modifiers contribute to phenotype variability in neurological disorders.Model organisms are a useful system for identifying modifier genes and studying underlying mechanisms.Synergy between human genetics and model systems can facilitate modifier gene identification and validation.Identifying pathways that are influenced by gene modifiers may suggest novel therapeutic strategies.Keywords:modifier gene;genetics;neurological disease;nervous system disease;disease models;mice" @default.
- W2914242207 created "2019-02-21" @default.
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- W2914242207 date "2012-04-16" @default.
- W2914242207 modified "2023-09-25" @default.
- W2914242207 title "Genetic Modifiers of Neurological Disease" @default.
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- W2914242207 doi "https://doi.org/10.1002/9780470015902.a0023856" @default.
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