Charlotte Kilstrup‐Nielsen

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome

Francesca Mari, Sara Azimonti, Ilaria Bertani et al. · Human Molecular Genetics · 2005 · 318 citations · Full text

Life Sciences, Genetics, Neuroscience +17

CDKL5 ensures excitatory synapse stability by reinforcing NGL-1–PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons

Sara Ricciardi, Federica Ungaro, M Hambrock et al. · Nature Cell Biology · 2012 · 278 citations · Full text

Life Sciences, Neurobiology, Neuroscience +15

The subcellular localization of PBX1 and EXD proteins depends on nuclear import and export signals and is modulated by association with PREP1 and HTH

Jens Berthelsen, Charlotte Kilstrup‐Nielsen, Francesco Blasi et al. · Genes & Development · 1999 · 239 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +14

CDKL5 Expression Is Modulated during Neuronal Development and Its Subcellular Distribution Is Tightly Regulated by the C-terminal Tail

Laura Rusconi, Lisa Salvatoni, Laura Giudici et al. · Journal of Biological Chemistry · 2008 · 208 citations · Full text

Life Sciences, Genetics, Neuroscience +10

Functional Consequences of Mutations in<i>CDKL5</i>, an X-linked Gene Involved in Infantile Spasms and Mental Retardation

Ilaria Bertani, Laura Rusconi, Fabrizio Bolognese et al. · Journal of Biological Chemistry · 2006 · 143 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12