Associated Papers
Connecting neurodevelopment to neurodegeneration: a spotlight on the role of kinesin superfamily protein 2A (KIF2A).
Ruiz-Reig N et al.
Neural Regeneration Research, 2024
KIF2A deficiency causes early-onset neurodegeneration.
Ruiz-Reig N et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Variants in KIF2A cause broad clinical presentation; the computational structural analysis of a novel variant in a patient with a cortical dysplasia, complex, with other brain malformations 3.
Hatano M et al.
American Journal of Medical Genetics. Part A, 2021
Roles of developmentally regulated KIF2A alternative isoforms in cortical neuron migration and differentiation.
Akkaya C et al.
Development (cambridge, England), 2021
Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development.
Broix L et al.
Human Molecular Genetics, 2018
Recurrent KIF2A mutations are responsible for classic lissencephaly.
Cavallin M et al.
Neurogenetics, 2017
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
Poirier K et al.
Nature Genetics, 2013
Modeling Neurodevelopmental Disorders and Epilepsy Caused by Loss of Function of kif2a in Zebrafish.
Partoens M et al.
Eneuro, 0
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