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 · 317 citations · Full text

Early-onset Seizure Variant, Rett Syndrome, Genetics +18

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 · 274 citations · Full text

Synaptic Plasticity, Neurophysiology, Synaptic Neuroscience +11

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 · 237 citations · Full text

Nuclear Import, Drosophila Schneider Cells, Subcellular Localization +19

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 · 201 citations · Full text

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 · 141 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, X-linked Gene Involved +11