Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients von Chérot, E., Keren, B., Dubourg, C., Carré, W., Fradin, M., Lavillaureix, A., Afenjar, A., Burglen, L., Whalen, S., Charles, P., Marey, I., Heide, S., Jacquette, A., Heron, D., Doummar, D., Rodriguez, D., Billette de Villemeur, T., Moutard, M.‐L., Guët, A., Xavier, J., Périsse, D., Cohen, D., Demurger, F., Quélin, C., Depienne, C., Odent, S., Nava, C., David, V., Pasquier, L., Mignot, C.

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Structure and Organization of the Human Survival Motor Neurone (SMN) Gene von Bürglen, Lydie, Lefebvre, Suzie, Clermont, Olivier, Burlet, Philippe, Viollet, Louis, Cruaud, Corinne, Munnich, Arnold, Melki, Judith

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Spectrum of brain malformations in fetuses with mild tubulinopathy von Hagege, R., Krajden Haratz, K., Malinger, G., Ben‐Sira, L., Leibovitz, Z., Heron, D., Burglen, L., Birnbaum, R., Valence, S., Keren, B., Blumkin, L., Jouannic, J.‐M., Lerman‐Sagie, T., Garel, C.

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Identification and characterization of a spinal muscular atrophy-determining gene von Lefebvre, Suzie, Bürglen, Lydie, Reboullet, Sophie, Clermont, Olivier, Burlet, Philippe, Viollet, Louis, Benichou, Bernard, Cruaud, Corinne, Millasseau, Philippe, Zeviani, Massimo, Le Paslier, Denis, Frézal, Jean, Cohen, Daniel, Weissenbach, Jean, Munnich, Arnold, Melki, Judith

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Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation von Gafner, M, Garel, C, Leibovitz, Z, Valence, S, Krajden Haratz, K, Oegema, R, Mancini, G M S, Heron, D, Bueltmann, E, Burglen, L, Rodriguez, D, Huisman, T A G M, Lequin, M H, Arad, A, Kidron, D, Muqary, M, Gindes, L, Lev, D, Boltshauser, E, Lerman-Sagie, T

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Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association von Bürglen, L, Amiel, J, Viollet, L, Lefebvre, S, Burlet, P, Clermont, O, Raclin, V, Landrieu, P, Verloes, A, Munnich, A, Melki, J

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Un cas familial d’encéphalopathie nécrosante aiguë post-infectieuse associé à une mutation du gène RANBP2 von Di Meglio, C., Cano, A., Milh, M., Girard, N., Burglen, L., Chabrol, B.

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RELN and VLDLR mutations underlie two distinguishable clinico-radiological phenotypes von Valence, S., Garel, C., Barth, M., Toutain, A., Paris, C., Amsallem, D., Barthez, M.-A., Mayer, M., Rodriguez, D., Burglen, L.

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Ataxies cérébelleuses congénitales von Burglen, L.

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Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations von PASSEMARD, S, TITOMANLIO, L, GUIMIOT, F, HYON, C, ISIDOR, B, MEGARBANE, A, MOOG, U, ODENT, S, HERNANDEZ, K, POUVREAU, N, SCALA, I, SCHAER, M, ELMALEH, M, GRESSENS, P, GERARD, B, VERLOES, A, AFENJAR, A, ALESSANDRI, J.-L, ANDRIA, G, BILLETTE DE VILLEMEUR, T, BOESPFLUG-TANGUY, O, BURGLEN, L, DEL GIUDICE, E

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Extremely severe vermis hypoplasia: a good clue for pontocerebellar hypoplasia type 8 diagnosis von Haye, D, Perrin, L, Valence, S, Rodriguez, D, Burglen, L

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OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment von Thauvin-Robinet, C, Thomas, S, Sinico, M, Aral, B, Burglen, L, Gigot, N, Dollfus, H, Rossignol, S, Raynaud, M, Philippe, C, Badens, C, Touraine, R, Gomes, C, Franco, B, Lopez, E, Elkhartoufi, N, Faivre, L, Munnich, A, Boddaert, N, Maldergem, L Van, Encha-Razavi, F, Lyonnet, S, Vekemans, M, Escudier, E, Attié-Bitach, T

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Monoamine neurotransmitters and movement disorders in children and adults von Doummar, D., Moussa, F., Nougues, M.-C., Ravelli, C., Louha, M., Whalen, S., Burglen, L., Rodriguez, D., Billette de Villemeur, T.

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The Role of the SMN Gene in Proximal Spinal Muscular Atrophy von Lefebvre, Suzie, Bürglen, Lydie, Frézal, Jean, Munnich, Arnold, Melki, Judith

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A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients von Cruaud, Corinne, Lefebvre, Suzie, Munnich, Arnold, Clermont, Olivier, Bürglen, Lydie, Tizzano, Eduardo, Bussaglia, Elena, Melki, Judith, Colomer, Jaume, Baiget, Montserrat, Urtizberea, Jon Andoni

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New insights in genetic diagnosis of congenital/very early-onset ataxia using new-generation sequencing von Burglen, L, Haye, D, Valence, S, Afenjar, A, Chantot-Bastaraud, S, Rougeot, C, Riquet, A, Garel, C, Rodriguez, D

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Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations von Dupré, T, Vuillaumier-Barrot, S, Chantret, I, Yayé, H S, Le Bizec, C, Afenjar, A, Altuzarra, C, Barnérias, C, Burglen, L, de Lonlay, P, Feillet, F, Napuri, S, Seta, N, Moore, S E H

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Diagnostic approach and therapeutic management of children affected by congenital cerebellar disorders von Belleville Goffeney, J, Paris, C, Bernard, E, Boucher, E, Billon Grand, N.C, Pastor Harper, D, Ridley, A, Burglen, L, Amsallem, D

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Identification du gène responsable des amyotrophies spinales: Perspectives von Bürglen, L, Frézal, J, Munnich, A, Melki, J

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Stratégie d’exploration d’une déficience intellectuelle inexpliquée von Verloes, A., Héron, D., Billette de Villemeur, T., Afenjar, A., Baumann, C., Bahi-Buisson, N., Charles, P., Faudet, A., Jacquette, A., Mignot, C., Moutard, M.-L., Passemard, S., Rio, M., Robel, L., Rougeot, C., Ville, D., Burglen, L., des Portes, V.

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