Journal
CEREBELLUM
Volume 9, Issue 3, Pages 272-283Publisher
SPRINGER
DOI: 10.1007/s12311-010-0169-6
Keywords
Cerebellum; Neurological and targeted mouse mutants; Congenital human cerebellar malformations; Genomics; Genetics; Ataxia
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Funding
- NINDS NIH HHS [R01 NS050386-05A2, R01 NS050386] Funding Source: Medline
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The list of genes that when mutated cause disruptions in cerebellar development is rapidly increasing. The study of both spontaneous and engineered mouse mutants has been essential to this progress, as it has revealed much of our current understanding of the developmental processes required to construct the mature cerebellum. Improvements in brain imaging, such as magnetic resonance imaging (MRI) and the emergence of better classification schemes for human cerebellar malformations, have recently led to the identification of a number of genes which cause human cerebellar disorders. In this review we argue that synergistic approaches combining classical molecular techniques, genomics, and mouse models of human malformations will be essential to fuel additional discoveries of cerebellar developmental genes and mechanisms.
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