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Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation.
Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.
Some evidence suggests that fatal and nonfatal event rates may trend together.
Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.
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Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.
Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron. 1998 Dec; 21(6):1315-25.
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PubMed
subject areas
Abnormalities, Multiple
Aging
Animals
Brain
Brain Diseases
Cerebral Cortex
Cerebral Ventricles
Choristoma
Chromosome Mapping
Contractile Proteins
Embryonic and Fetal Development
Epilepsy
Female
Fetal Death
Filamins
Gene Expression Regulation, Developmental
Humans
Magnetic Resonance Imaging
Male
Mice
Microfilament Proteins
Neurons
Pedigree
Phenotype
Sex Characteristics
X Chromosome
authors with profiles
Peter Huttenlocher
William B. Dobyns