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List of works by Florence Molinari

A knock-in mouse model for KCNQ2-related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment

scientific article published on 02 April 2020

Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation

scientific article published on December 2009

Extracellular proteases and their inhibitors in genetic diseases of the central nervous system

scientific article

Glutamate transporters control metabotropic glutamate receptors activation to prevent the genesis of paroxysmal burst in the developing hippocampus ⬇️

scientific article published on January 26, 2012

Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy

scientific article

Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations

scientific article published on 25 June 2009

Mitochondria and neonatal epileptic encephalopathies with suppression burst ⬇️

scientific article published on December 1, 2010

Neurotrypsin mutations and mental retardation

scientific article published in May 2003

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

scientific article

Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group

scientific article published on 08 July 2019

Tequila, a neurotrypsin ortholog, regulates long-term memory formation in Drosophila

scientific article

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