Associated Papers
Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly.
Friocourt G et al.
Acta Neuropathologica, 2011
Functional interplay between LIS1, NDE1 and NDEL1 in dynein-dependent organelle positioning.
Lam C et al.
Journal of Cell Science, 2010
Missense mutations resulting in type 1 lissencephaly.
Reiner O et al.
Cellular and Molecular Life Sciences : Cmls, 2005
The structure of the N-terminal domain of the product of the lissencephaly gene Lis1 and its functional implications.
Kim MH et al.
Structure (london, England : 1993), 2004
Interaction of reelin signaling and Lis1 in brain development.
Assadi AH et al.
Nature Genetics, 2003
Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.
D'Agostino MD et al.
Brain : a Journal of Neurology, 2002
Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).
Cardoso C et al.
Human Mutation, 2002
LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.
Leventer RJ et al.
Neurology, 2001
NudE-L, a novel Lis1-interacting protein, belongs to a family of vertebrate coiled-coil proteins.
Sweeney KJ et al.
Mechanisms of Development, 2001
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.
Cardoso C et al.
Human Molecular Genetics, 2000
LIS1 regulates CNS lamination by interacting with mNudE, a central component of the centrosome.
Feng Y et al.
Neuron, 2000
Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development.
Sweeney KJ et al.
Mechanisms of Development, 2000
Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.
Pilz DT et al.
Human Molecular Genetics, 1999
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