Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations
Bahi-Buisson, N, Poirier, K, Boddaert, N, Saillour, Y, Castelnau, L, Philip, N, Buyse, G, Villard, L, Joriot, S, Marret, S, Bourgeois, M, Van Esch, H, Lagae, L, Amiel, J, Hertz-Pannier, L, Roubertie, A, Rivier, F, Pinard, J M, Beldjord, C, Chelly, J
Published in Journal of medical genetics (01.10.2008)
Published in Journal of medical genetics (01.10.2008)
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Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia
Zanni, G, Saillour, Y, Nagara, M, Billuart, P, Castelnau, L, Moraine, C, Faivre, L, Bertini, E, Durr, A, Guichet, A, Rodriguez, D, des Portes, V, Beldjord, C, Chelly, J
Published in Neurology (08.11.2005)
Published in Neurology (08.11.2005)
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Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia
Saillour, Y, Zanni, G, Des Portes, V, Heron, D, Guibaud, L, Iba-Zizen, M T, Pedespan, J L, Poirier, K, Castelnau, L, Julien, C, Franconnet, C, Bonthron, D, Porteous, M E, Chelly, J, Bienvenu, T
Published in Journal of medical genetics (01.11.2007)
Published in Journal of medical genetics (01.11.2007)
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Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing
Bahi-Buisson, N, Boddaert, N, Saillour, Y, Souville, I, Poirier, K, Léger, P-L, Castelnau, L, Plouin, P, Carion, N, Beldjord, C, Chelly, J
Published in Revue neurologique (01.12.2008)
Published in Revue neurologique (01.12.2008)
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X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
Hu, H, Haas, S A, Chelly, J, Van Esch, H, Raynaud, M, de Brouwer, A P M, Weinert, S, Froyen, G, Frints, S G M, Laumonnier, F, Zemojtel, T, Love, M I, Richard, H, Emde, A-K, Bienek, M, Jensen, C, Hambrock, M, Fischer, U, Langnick, C, Feldkamp, M, Wissink-Lindhout, W, Lebrun, N, Castelnau, L, Rucci, J, Montjean, R, Dorseuil, O, Billuart, P, Stuhlmann, T, Shaw, M, Corbett, M A, Gardner, A, Willis-Owen, S, Tan, C, Friend, K L, Belet, S, van Roozendaal, K E P, Jimenez-Pocquet, M, Moizard, M-P, Ronce, N, Sun, R, O'Keeffe, S, Chenna, R, van Bömmel, A, Göke, J, Hackett, A, Field, M, Christie, L, Boyle, J, Haan, E, Nelson, J, Turner, G, Baynam, G, Gillessen-Kaesbach, G, Müller, U, Steinberger, D, Budny, B, Badura-Stronka, M, Latos-Bieleńska, A, Ousager, L B, Wieacker, P, Rodríguez Criado, G, Bondeson, M-L, Annerén, G, Dufke, A, Cohen, M, Van Maldergem, L, Vincent-Delorme, C, Echenne, B, Simon-Bouy, B, Kleefstra, T, Willemsen, M, Fryns, J-P, Devriendt, K, Ullmann, R, Vingron, M, Wrogemann, K, Wienker, T F, Tzschach, A, van Bokhoven, H, Gecz, J, Jentsch, T J, Chen, W, Ropers, H-H, Kalscheuer, V M
Published in Molecular psychiatry (01.01.2016)
Published in Molecular psychiatry (01.01.2016)
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Retrovirus-Mediated Enzymatic Correction of Tay-Sachs Defect in Transduced and Non-Transduced Cells
Guidotti, J.-E., Akli, S., Castelnau-takhine, L., Kahn, A., Poenaru, L.
Published in Human molecular genetics (01.05.1998)
Published in Human molecular genetics (01.05.1998)
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Malformations cérébrales et épilepsie : présentations radiocliniques et implications pour le diagnostic génétique
Bahi-Buisson, N., Boddaert, N., Saillour, Y., Souville, I., Poirier, K., Léger, P.-L., Castelnau, L., Plouin, P., Carion, N., Beldjord, C., Chelly, J.
Published in Revue neurologique (01.12.2008)
Published in Revue neurologique (01.12.2008)
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Neuronal Targeting of Cardiotrophin-1 by Coupling with Tetanus Toxin C Fragment
Bordet, T., Castelnau-Ptakhine, L., Fauchereau, F., Friocourt, G., Kahn, A., Haase, G.
Published in Molecular and cellular neuroscience (01.05.2001)
Published in Molecular and cellular neuroscience (01.05.2001)
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Adenovirus-mediated transfer of the neurotrophin-3 gene into skeletal muscle of pmn mice: Therapeutic effects and mechanisms of action
Haase, G, Pettmann, B, Vigne, E, Castelnau-Ptakhine, L, Schmalbruch, H, Kahn, A
Published in Journal of the neurological sciences (01.10.1998)
Published in Journal of the neurological sciences (01.10.1998)
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Conference Proceeding
Infecciones asociadas a la Asistencia Sanitaria en un Hospital especializado en el paciente nefro-urológico
Fiterre Lancis, Irene, Sabournín Castelnau, Nancy L, Bandera Sánchez, Osladis, Sarduy Chapis, Rosa Lidia, Castillo Rodríguez, Bárbara, Fernández Salazar, Vivian S.
Published in Revista habanera de ciencias médicas (2017)
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Published in Revista habanera de ciencias médicas (2017)
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First-trimester prenatal diagnosis of mucolipidosis II (I-cell disease) by chorionic biopsy
Poenaru, L, Castelnau, L, Dumez, Y, Thepot, F
Published in American journal of human genetics (01.11.1984)
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Published in American journal of human genetics (01.11.1984)
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A variant of mucolipidosis. II. Clinical, biochemical and pathological investigations
Poenaru, L, Castelnau, L, Tome, F, Boue, J, Maroteaux, P
Published in European journal of pediatrics (01.04.1988)
Published in European journal of pediatrics (01.04.1988)
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First trimester prenatal diagnosis of metachromatic leukodystrophy on chorionic villi by 'immunoprecipitation-electrophoresis'
Poenaru, L, Castelnau, L, Besançon, A M, Nicolesco, H, Akli, S, Theophil, D
Published in Journal of inherited metabolic disease (01.06.1988)
Published in Journal of inherited metabolic disease (01.06.1988)
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MTV's "Staying Alive" Global Campaign Promoted Interpersonal Communication about HIV and Positive Beliefs about HIV Prevention
Geary, Cynthia Waszak, Burke, Holly McClain, Castelnau, Laure, Neupane, Shailes, Sall, Yacine Ba, Wong, Emily, Tucker, Heidi Toms
Published in AIDS education and prevention (01.02.2007)
Published in AIDS education and prevention (01.02.2007)
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Prenatal diagnosis of atypical Tay-Sachs disease by chorionic villi sampling
Besançon, A M, Belon, J P, Castelnau, L, Dumez, Y, Poenaru, L
Published in Prenatal diagnosis (01.09.1984)
Published in Prenatal diagnosis (01.09.1984)
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Prenatal diagnosis of a heterozygote for mucopolysaccharidosis type VII (beta-glucuronidase deficiency)
Poenaru, L, Castelnau, L, Mossman, J, Boué, J, Dreyfus, J C
Published in Prenatal diagnosis (01.10.1982)
Published in Prenatal diagnosis (01.10.1982)
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Exposure to MTV's Global HIV Prevention Campaign in Kathmandu, Nepal; Sao Paulo, Brazil; and Dakar, Senegal
Geary, Cynthia Waszak, Burke, Holly McClain, Castelnau, Laure, Neupane, Shailes, Sall, Yacine Ba, Wong, Emily
Published in AIDS education and prevention (01.02.2007)
Published in AIDS education and prevention (01.02.2007)
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Protective effects of cardiotrophin-1 adenoviral gene transfer on neuromuscular degeneration in transgenic ALS mice
BORDET, Thierry, LESBORDES, Jeanne-Claire, ROUHANI, Saïd, CASTELNAU-PTAKHINE, Laëtitia, SCHMALBRUCH, Henning, HAASE, Georg, KAHN, Axel
Published in Human molecular genetics (01.09.2001)
Published in Human molecular genetics (01.09.2001)
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In vivo electrotransfer of the cardiotrophin-1 gene into skeletal muscle slows down progression of motor neuron degeneration in pmn mice
Lesbordes, Jeanne-Claire, Bordet, Thierry, Haase, Georg, Castelnau-Ptakhine, Laetitia, Rouhani, Saïd, Gilgenkrantz, Helène, Kahn, Axel
Published in Human molecular genetics (01.07.2002)
Published in Human molecular genetics (01.07.2002)
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