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The American Journal of Pathology|January 12, 2012
Growth defects and impaired cognitive-behavioral abilities in mice with knockout for Eif4h, a gene located in the mouse homolog of the Williams-Beuren syndrome critical regionSimona Capossela, Luca Muzio, Alessandro Bertolo, et al.
EMBO Molecular Medicine|November 2, 2016
Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelinationAlessandra Bolino, Françoise Piguet, Valeria Alberizzi, et al.
Human Molecular Genetics|October 4, 2017
A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobilityFabrizia C Guarnieri, Davide Pozzi, Andrea Raimondi, et al.
Cerebral Cortex (New York, N.Y. : 1991)|October 3, 2017
Pharmacological Modulation of AMPAR Rescues Intellectual Disability-Like Phenotype in Tm4sf2-/y MiceLuca Murru, Elena Vezzoli, Anna Longatti, et al.
Human Mutation|December 21, 2013
Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number gainsLieselot Vanmarsenille, Maila Giannandrea, Nathalie Fieremans, et al.
Nature Communications|January 11, 2022
Scn1a gene reactivation after symptom onset rescues pathological phenotypes in a mouse model of Dravet syndromeNicholas Valassina, Simone Brusco, Alessia Salamone, et al.
Cerebral Cortex (New York, N.Y. : 1991)|November 20, 2015
Loss of Either Rac1 or Rac3 GTPase Differentially Affects the Behavior of Mutant Mice and the Development of Functional GABAergic NetworksRoberta Pennucci, Francesca Talpo, Veronica Astro, et al.
Nature Communications|March 19, 2015
The intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR compositionMaria Lidia Mignogna, Maila Giannandrea, Antonia Gurgone, et al.
Parkinsonism & Related Disorders|August 31, 2017
X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B geneAndrea Ciammola, Paola Carrera, Alessio Di Fonzo, et al.
Brain, Behavior, and Immunity|December 16, 2014
Down-sizing of neuronal network activity and density of presynaptic terminals by pathological acidosis are efficiently prevented by Diminazene AceturateRoberta de Ceglia, Linda Chaabane, Emilia Biffi, et al.
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