professeur d'université Praticien hospitalier, CHU Lyon, Université Lyon1
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A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome
V Des Portes, JM Pinard, P Billuart, MC Vinet, A Koulakoff, A Carrié, ...
Cell 92 (1), 51-61, 1998
Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates
S Jacquemont, RJ Hagerman, M Leehey, J Grigsby, L Zhang, ...
The American Journal of Human Genetics 72 (4), 869-878, 2003
Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation
P Billuart, T Bienvenu, N Ronce, V Des Portes, MC Vinet, R Zemni, ...
Nature 392 (6679), 923-926, 1998
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly
K Poirier, N Lebrun, L Broix, G Tian, Y Saillour, C Boscheron, E Parrini, ...
Nature genetics 45 (6), 639-647, 2013
Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056
S Jacquemont, A Curie, V Des Portes, MG Torrioli, E Berry-Kravis, ...
Science translational medicine 3 (64), 64ra1-64ra1, 2011
MECP2 is highly mutated in X-linked mental retardation
P Couvert, T Bienvenu, C Aquaviva, K Poirier, C Moraine, C Gendrot, ...
Human Molecular Genetics 10 (9), 941-946, 2001
Doublecortin Is the Major Gene Causing X-Linked Subcortical Laminar Heterotopia (SCLH)
V Des Portes, F Francis, JM Pinard, I Desguerre, ML Moutard, I Snoeck, ...
Human molecular genetics 7 (7), 1063-1070, 1998
A new gene involved in X-linked mental retardation identified by analysis of an X; 2 balanced translocation
R Zemni, T Bienvenu, MC Vinet, A Sefiani, A Carrié, P Billuart, ...
Nature genetics 24 (2), 167-170, 2000
Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome
EM Berry-Kravis, L Lindemann, AE Jønch, G Apostol, MF Bear, ...
Nature reviews Drug discovery 17 (4), 280-299, 2018
Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials
E Berry-Kravis, V Des Portes, R Hagerman, S Jacquemont, P Charles, ...
Science translational medicine 8 (321), 321ra5-321ra5, 2016
The three stages of epilepsy in patients with CDKL5 mutations
N Bahi‐Buisson, A Kaminska, N Boddaert, M Rio, A Afenjar, M Gérard, ...
Epilepsia 49 (6), 1027-1037, 2008
Translation of expanded CGG repeats into FMRpolyG is pathogenic and may contribute to fragile X tremor ataxia syndrome
C Sellier, RAM Buijsen, F He, S Natla, L Jung, P Tropel, A Gaucherot, ...
Neuron 93 (2), 331-347, 2017
PQBP1 is a proximal sensor of the cGAS-dependent innate response to HIV-1
SM Yoh, M Schneider, J Seifried, S Soonthornvacharin, RE Akleh, ...
Cell 161 (6), 1293-1305, 2015
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation
I Meloni, M Muscettola, M Raynaud, I Longo, M Bruttini, MP Moizard, ...
Nature genetics 30 (4), 436-440, 2002
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine–binding protein cause nonsyndromic X-linked mental retardation
K Freude, K Hoffmann, LR Jensen, MB Delatycki, V Des Portes, B Moser, ...
The American Journal of Human Genetics 75 (2), 305-309, 2004
Herpes simplex encephalitis relapses in children: differentiation of two neurologic entities
X De Tiege, F Rozenberg, V Des Portes, JB Lobut, P Lebon, G Ponsot, ...
Neurology 61 (2), 241-243, 2003
Missense mutation in PAK3, R67C, causes X‐linked nonspecific mental retardation
T Bienvenu, V Des Portes, N McDonell, A Carrié, R Zemni, P Couvert, ...
American journal of medical genetics 93 (4), 294-298, 2000
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex
N Bahi-Buisson, K Poirier, N Boddaert, C Fallet-Bianco, N Specchio, ...
Brain 133 (11), 3194-3209, 2010
The challenges of clinical trials in fragile X syndrome
S Jacquemont, E Berry-Kravis, R Hagerman, F Von Raison, F Gasparini, ...
Psychopharmacology 231, 1237-1250, 2014
Mutation frequencies of X‐linked mental retardation genes in families from the EuroMRX consortium
APM de Brouwer, HG Yntema, T Kleefstra, D Lugtenberg, AR Oudakker, ...
Human mutation 28 (2), 207-208, 2007
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