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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 | 870 | 1998 |
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 | 608 | 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 | 506 | 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 | 424 | 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 | 341 | 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 | 306 | 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 | 297 | 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 | 288 | 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 | 258 | 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 | 230 | 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 | 223 | 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 | 207 | 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 | 189 | 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 | 175 | 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 | 173 | 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 | 164 | 2000 |
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 | 142 | 2014 |
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 | 142 | 2010 |
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 | 118 | 2007 |