F. Molinari

发表

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

A. Munnich, P. Sonderegger, F. Molinari, 2003, Human molecular genetics.

The conversion of glutamate by glutamine synthase in neocortical astrocytes from juvenile rat is important to limit glutamate spillover and peri/extrasynaptic activation of NMDA receptors

L. Aniksztejn, F. Molinari, Y. Trabelsi, 2017, Glia.

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

A. Smahi, A. Munnich, N. Boddaert, 2009, American journal of human genetics.

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

Philippe Froguel, David Meyre, Arnold Munnich, 2009, American journal of human genetics.

Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood?

A. Munnich, M. Vekemans, M. D. de Blois, 2003, Journal of medical genetics.

Year : 2003 Extracellular proteases and their inhibitors in genetic diseases of the central nervous system

A. Munnich, P. Sonderegger, F. Molinari, 2006 .

Inhibition of the Mitochondrial Glutamate Carrier SLC25A22 in Astrocytes Leads to Intracellular Glutamate Accumulation

C. Melon, L. Aniksztejn, F. M. Lasorsa, 2017, Front. Cell. Neurosci..

High-intensity interval training is superior to moderate intensity training on aerobic capacity in rats: Impact on hippocampal plasticity markers

J. Temprado, Caroline Pin-barre, J. Laurin, 2020, Behavioural Brain Research.

High versus moderate intensity training in rats: Impact on endurance and hippocampal plasticity markers

Caroline Pin-barre, J. Laurin, C. Pellegrino, 2021 .

Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation

A. Munnich, S. Lyonnet, M. Vekemans, 2002, Journal of medical genetics.

Truncating Neurotrypsin Mutation in Autosomal Recessive Nonsyndromic Mental Retardation

A. Munnich, P. Sonderegger, D. Bacq, 2002, Science.

Bumetanide increases microglia-interneuron contact following traumatic brain injury

F. Guillemot, C. Rivera, J. Laurin, 2022, bioRxiv.

Identification of novel microcephaly-linked protein ABBA that mediates cortical progenitor cell division and corticogenesis through NEDD9-RhoA

C. Rivera, P. Lappalainen, F. Molinari, 2022, medRxiv.

Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation.

Valentino Romano, Jacques Constant, Christian Andres, 2006, The American journal of psychiatry.

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

P. Bénit, F. Rivier, P. Rustin, 2019, European Journal of Human Genetics.

Protective Role of Low Ethanol Administration Following Ischemic Stroke via Recovery of KCC2 and p75NTR Expression

C. Rivera, H. Rauvala, F. Molinari, 2020, Molecular Neurobiology.

A possible link between KCNQ2‐ and STXBP1‐related encephalopathies: STXBP1 reduces the inhibitory impact of syntaxin‐1A on M current

L. Aniksztejn, J. Devaux, F. Molinari, 2017, Epilepsia.

A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression‐burst enhances Kv7/M channel activity

L. Aniksztejn, J. Devaux, L. Villard, 2016, Epilepsia.

Oligosaccharyltransferase subunits mutations in non-syndromic mental retardation

Stratton, J. Gécz, P. Futreal, 2007 .

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

A. Cattani, L. Aniksztejn, F. Molinari, 2012, Neuroscience.

Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy.

A. Munnich, P. Rustin, M. Vekemans, 2005, American journal of human genetics.

Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts

A. Munnich, N. Boddaert, F. Brunelle, 2009, Clinical genetics.

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

A. Need, A. Pagnamenta, M. Bleda, 2021, Genetics in Medicine.

Mitochondria and neonatal epileptic encephalopathies with suppression burst

F. Molinari, 2010, Journal of bioenergetics and biomembranes.

Genome‐wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation

R. Redon, A. Munnich, D. Bacq, 2004, Clinical genetics.

Fluorescence genotyping for screening cryptic telomeric rearrangements.

F. Molinari, L. Colleaux, M. Rio, 2002, Methods in molecular biology.

L. Villard, F. Molinari, S. Gorokhova, 2023, Journal of Medical Genetics.

Tequila, a Neurotrypsin Ortholog, Regulates Long-Term Memory Formation in Drosophila

T. Préat, A. Munnich, F. Molinari, 2006, Science.

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation.

J. Gécz, M. Stratton, P. Futreal, 2008, American journal of human genetics.

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

B. Yalcin, P. Lenck-Santini, J. Roux, 2020, Epilepsia.

A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels

G. Alcaraz, A. Afenjar, L. Aniksztejn, 2015, Neurobiology of Disease.

Novel carbon film induces precocious calcium oscillation to promote neuronal cell maturation

C. Rivera, C. Pellegrino, H. Huttunen, 2020, Scientific Reports.

A recurrent KCNQ 2 pore mutation causing early onset epileptic encephalopathy has amoderate effect onM current but alters subcellular localization of Kv 7 channels

G. Alcaraz, A. Afenjar, L. Aniksztejn, 2015 .

Response to Comment on "Tequila, a Neurotrypsin Ortholog, Regulates Long-Term Memory Formation in Drosophila"

T. Préat, A. Munnich, M. Cariou, 2007, Science.

Bumetanide induces post-traumatic microglia–interneuron contact to promote neurogenesis and recovery

F. Guillemot, C. Rivera, J. Laurin, 2023, Brain : a journal of neurology.

NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant

G. Daquin, L. Villard, F. Molinari, 2023, Epilepsia.

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

F. Rivier, P. Rustin, J. Rivière, 2019, European Journal of Human Genetics.

Mutations de la neurotrypsine et retard mental

A. Munnich, F. Molinari, L. Colleaux, 2003 .