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V. des Portes

American Journal of Human Genetics, Science Translational Medicine, Epilepsia, Brain : a journal of neurology, Human Mutation, Psychopharmacology, Annals of Neurology, Archives of Neurology, Orphanet Journal of Rare Diseases Show more
11
Role
Title
Level Year L/R
🐜 Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates.
16 auth. S. Jacquemont, R. Hagerman, M. Leehey, J. Grigsby, Lin Zhang, J. Brunberg, C. Greco, V. des Portes, Tristan Jardini, R. Levine, ... E. Berry-Kravis, W. Brown, S. Schaeffer, J. Kissel, F. Tassone, P. Hagerman 		9 2003
9
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🐜 Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056
26 auth. S. Jacquemont, A. Curie, V. des Portes, M. Torrioli, E. Berry-Kravis, R. Hagerman, F. Ramos, K. Cornish, Yunsheng He, Charles Paulding, G. Neri, Fei Chen, N. Hadjikhani, D. Martinet, Joanne M. Meyer, ... J. Beckmann, Karine Delange, Amandine Brun, G. Bussy, F. Gasparini, T. Hilse, A. Floesser, J. Branson, G. Bilbe, Donald R. Johns, B. Gomez-Mancilla 		9 2011
9
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🐜 Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials
14 auth. E. Berry-Kravis, V. des Portes, R. Hagerman, S. Jacquemont, P. Charles, J. Visootsak, M. Brinkman, K. Rérat, B. Koumaras, Liansheng Zhu, ... G. Barth, T. Jaecklin, George G Apostol, F. von Raison 		7 2016
7
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🐜 The three stages of epilepsy in patients with CDKL5 mutations
18 auth. N. Bahi-Buisson, A. Kaminska, N. Boddaert, M. Rio, A. Afenjar, M. Gérard, F. Giuliano, J. Motte, D. Heron, Marie Ange N'Guyen Morel, ... P. Plouin, C. Richelme, V. des Portes, O. Dulac, C. Philippe, C. Chiron, R. Nabbout, T. Bienvenu 		7 2008
7
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🐜 GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.
20 auth. N. Bahi-Buisson, K. Poirier, N. Boddaert, C. Fallet-Bianco, N. Specchio, E. Bertini, O. Çağlayan, K. Lascelles, C. Elie, J. Rambaud, ... M. Baulac, Isabelle An, P. Dias, V. des Portes, M. Moutard, C. Soufflet, M. El Maleh, C. Beldjord, L. Villard, J. Chelly 		7 2010
7
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🐜 Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation.
15 auth. K. Freude, K. Hoffmann, L. Jensen, M. Delatycki, V. des Portes, B. Moser, B. Hamel, H. van Bokhoven, C. Moraine, J. Fryns, ... J. Chelly, J. Gécz, S. Lenzner, V. Kalscheuer, H. Ropers 		6 2004
6
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🐜 Mutation frequencies of X‐linked mental retardation genes in families from the EuroMRX consortium
33 auth. A. D. de Brouwer, H. Yntema, T. Kleefstra, D. Lugtenberg, Astrid R. Oudakker, B. D. de Vries, H. van Bokhoven, H. Van Esch, S. Frints, G. Froyen, J. Fryns, M. Raynaud, M. Moizard, N. Ronce, A. Bensalem, ... C. Moraine, K. Poirier, L. Castelnau, Yoann Saillour, T. Bienvenu, C. Beldjord, V. des Portes, J. Chelly, G. Turner, T. Fullston, J. Gécz, A. Kuss, A. Tzschach, L. Jensen, S. Lenzner, V. Kalscheuer, H. Ropers, B. Hamel 		6 2007
6
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🐜 The challenges of clinical trials in fragile X syndrome
9 auth. S. Jacquemont, E. Berry-Kravis, R. Hagerman, F. von Raison, F. Gasparini, George G Apostol, ... M. Ufer, V. des Portes, B. Gomez-Mancilla 		6 2013
6
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🐜 Pelizaeus–Merzbacher–Like disease presentation of MCT8 mutated male subjects
11 auth. C. Vaurs-Barrière, Marlène Deville, C. Sarret, G. Giraud, V. des Portes, J. Prats-Viñas, ... G. De Michele, B. Dan, A. Brady, O. Boespflug-Tanguy, R. Touraine 		6 2009
6
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🐜 LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity.
23 auth. Yoann Saillour, N. Carion, C. Quélin, P. Léger, N. Boddaert, C. Elie, A. Toutain, S. Mercier, M. Barthez, M. Milh, ... S. Joriot, V. des Portes, N. Philip, D. Broglin, A. Roubertie, G. Pitelet, M. Moutard, J. Pinard, C. Cances, A. Kaminska, J. Chelly, C. Beldjord, N. Bahi-Buisson 		6 2009
6
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🐜 Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient
21 auth. L. Burglen, S. Chantot-Bastaraud, C. Garel, M. Milh, R. Touraine, G. Zanni, F. Petit, A. Afenjar, C. Goizet, S. Barresi, ... A. Coussement, C. Ioos, L. Lazaro, S. Joriot, I. Desguerre, D. Lacombe, V. des Portes, E. Bertini, J. Siffroi, T. Billette de Villemeur, D. Rodriguez 		6 2012
6
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