The historical Coffin-Lowry syndrome family revisited: Identification of two novel mutations ofRPS6KA3in three male patients

Classic phenotype of Coffin-lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain

(2013) Kitiwan Rojnueangnit et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Defective synaptic transmission and structure in the dentate gyrus and selective fear memory impairment in the Rsk2 mutant mouse model of Coffin–Lowry syndrome

(2013) Elise Morice et al.   NEUROBIOLOGY OF DISEASE

Regulation and function of the RSK family of protein kinases

(2011) Yves Romeo et al.   BIOCHEMICAL JOURNAL

Altered ERK/MAPK signaling in the hippocampus of the mrsk2_KO mouse model of Coffin-Lowry syndrome

(2011) Anne Schneider et al.   JOURNAL OF NEUROCHEMISTRY

Four novel RSK2 mutations in females with Coffin–Lowry syndrome

(2010) Dorota Jurkiewicz et al.   European Journal of Medical Genetics

Coffin–Lowry syndrome

(2009) Patricia Marques Pereira et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The RSK family of kinases: emerging roles in cellular signalling

(2008) Rana Anjum et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

The Coffin-Lowry syndrome-associated protein RSK2 is implicated in calcium-regulated exocytosis through the regulation of PLD1

(2008) M. Zeniou-Meyer et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA