Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human
Kielar, Michel, Tuy, Françoise Phan Dinh, Bizzotto, Sara, Lebrand, Cécile, de Juan Romero, Camino, Poirier, Karine, Oegema, Renske, Mancini, Grazia Maria, Bahi-Buisson, Nadia, Olaso, Robert, Le Moing, Anne-Gaëlle, Boutourlinsky, Katia, Boucher, Dominique, Carpentier, Wassila, Berquin, Patrick, Deleuze, Jean-François, Belvindrah, Richard, Borrell, Victor, Welker, Egbert, Chelly, Jamel, Croquelois, Alexandre, Francis, Fiona
Published in Nature neuroscience (01.07.2014)
Published in Nature neuroscience (01.07.2014)
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Journal Article
EML1‐associated brain overgrowth syndrome with ribbon‐like heterotopia
Oegema, Renske, McGillivray, George, Leventer, Richard, Le Moing, Anne‐Gaëlle, Bahi‐Buisson, Nadia, Barnicoat, Angela, Mandelstam, Simone, Francis, David, Francis, Fiona, Mancini, Grazia M. S., Savelberg, Sanne, Haaften, Gijs, Mankad, Kshitij, Lequin, Maarten H.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2019)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2019)
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Journal Article
Kleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutation
Jobic, Florence, Lacot‐Leriche, Emilie, Piton, Amélie, Le Moing, Anne‐Gaëlle, Mathieu‐Dramard, Michèle, Costantini, Sara, Morin, Gilles, Jedraszak, Guillaume
Published in American journal of medical genetics. Part A (01.12.2021)
Published in American journal of medical genetics. Part A (01.12.2021)
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Journal Article
A Movement Monitor Based on Magneto-Inertial Sensors for Non-Ambulant Patients with Duchenne Muscular Dystrophy: A Pilot Study in Controlled Environment
Le Moing, Anne-Gaëlle, Seferian, Andreea Mihaela, Moraux, Amélie, Annoussamy, Mélanie, Dorveaux, Eric, Gasnier, Erwan, Hogrel, Jean-Yves, Voit, Thomas, Vissière, David, Servais, Laurent
Published in PloS one (07.06.2016)
Published in PloS one (07.06.2016)
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Journal Article
Upper limb strength and function changes during a one-year follow-up in non-ambulant patients with Duchenne Muscular Dystrophy: an observational multicenter trial
Seferian, Andreea Mihaela, Moraux, Amélie, Annoussamy, Mélanie, Canal, Aurélie, Decostre, Valérie, Diebate, Oumar, Le Moing, Anne-Gaëlle, Gidaro, Teresa, Deconinck, Nicolas, Van Parys, Frauke, Vereecke, Wendy, Wittevrongel, Sylvia, Mayer, Michèle, Maincent, Kim, Desguerre, Isabelle, Thémar-Noël, Christine, Cuisset, Jean-Marie, Tiffreau, Vincent, Denis, Severine, Jousten, Virginie, Quijano-Roy, Susana, Voit, Thomas, Hogrel, Jean-Yves, Servais, Laurent
Published in PloS one (02.02.2015)
Published in PloS one (02.02.2015)
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Journal Article
Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature
Nizon, Mathilde, Andrieux, Joris, Rooryck, Caroline, de Blois, Marie-Christine, Bourel-Ponchel, Emilie, Bourgois, Béatrice, Boute, Odile, David, Albert, Delobel, Bruno, Duban-Bedu, Bénédicte, Giuliano, Fabienne, Goldenberg, Alice, Grotto, Sarah, Héron, Delphine, Karmous-Benailly, Houda, Keren, Boris, Lacombe, Didier, Lapierre, Jean-Michel, Le Caignec, Cédric, Le Galloudec, Eric, Le Merrer, Martine, Le Moing, Anne-Gaëlle, Mathieu-Dramard, Michèle, Nusbaum, Sylvie, Pichon, Olivier, Pinson, Lucile, Raoul, Odile, Rio, Marlène, Romana, Serge, Roubertie, Agnès, Colleaux, Laurence, Turleau, Catherine, Vekemans, Michel, Nabbout, Rima, Malan, Valérie
Published in American journal of medical genetics. Part A (01.01.2015)
Published in American journal of medical genetics. Part A (01.01.2015)
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Journal Article
Effects of Methylphenidate on Default-Mode Network/Task-Positive Network Synchronization in Children With ADHD
Querne, Laurent, Fall, Sidy, Le Moing, Anne-Gaëlle, Bourel-Ponchel, Emilie, Delignières, Aline, Simonnot, Anais, de Broca, Alain, Gondry-Jouet, Catherine, Boucart, Muriel, Berquin, Patrick
Published in Journal of attention disorders (01.12.2017)
Published in Journal of attention disorders (01.12.2017)
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Journal Article
Individual differences in subcortical microstructure organization reflect reaction time performances during a flanker task: a diffusion tensor imaging study in children with and without ADHD
Fall, Sidy, Querne, Laurent, Le Moing, Anne-Gaëlle, Berquin, Patrick
Published in Psychiatry research. Neuroimaging (30.07.2015)
Published in Psychiatry research. Neuroimaging (30.07.2015)
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Journal Article
Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants
Poncet, Anaïs F, Grunewald, Olivier, Vaclavik, Veronika, Meunier, Isabelle, Drumare, Isabelle, Pelletier, Valérie, Bocquet, Béatrice, Todorova, Margarita G, Le Moing, Anne-Gaëlle, Devos, Aurore, Schorderet, Daniel F, Jobic, Florence, Defoort-Dhellemmes, Sabine, Dollfus, Hélène, Smirnov, Vasily M, Dhaenens, Claire-Marie
Published in International journal of molecular sciences (13.04.2022)
Published in International journal of molecular sciences (13.04.2022)
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Journal Article
Upper limb evaluation and one-year follow up of non-ambulant patients with spinal muscular atrophy: an observational multicenter trial
Seferian, Andreea Mihaela, Moraux, Amélie, Canal, Aurélie, Decostre, Valérie, Diebate, Oumar, Le Moing, Anne Gaëlle, Gidaro, Teresa, Deconinck, Nicolas, Van Parys, Frauke, Vereecke, Wendy, Wittevrongel, Sylvia, Annoussamy, Mélanie, Mayer, Michèle, Maincent, Kim, Cuisset, Jean-Marie, Tiffreau, Vincent, Denis, Severine, Jousten, Virginie, Quijano-Roy, Susana, Voit, Thomas, Hogrel, Jean-Yves, Servais, Laurent
Published in PloS one (10.04.2015)
Published in PloS one (10.04.2015)
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Journal Article
Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation
Bolocan, Anamaria, Quijano-Roy, Susana, Seferian, Andreea M, Baumann, Clarisse, Allamand, Valérie, Richard, Pascale, Estournet, Brigitte, Carlier, Robert, Cavé, Hélène, Gartioux, Corine, Blin, Nathalie, Le Moing, Anne-Gaëlle, Gidaro, Teresa, Germain, Dominique P, Fardeau, Michel, Voit, Thomas, Servais, Laurent, Romero, Norma Beatriz
Published in Neuromuscular disorders : NMD (01.11.2014)
Published in Neuromuscular disorders : NMD (01.11.2014)
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Journal Article
Distinct attentional and executive profiles in neurofibromatosis type 1: Is there difference with primary attention deficit-hyperactivity disorder?
Routier, Laura, Querné, Laurent, Fontaine, Cécile, Berquin, Patrick, Le Moing, Anne-Gaëlle
Published in European journal of paediatric neurology (01.07.2024)
Published in European journal of paediatric neurology (01.07.2024)
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Journal Article
Should isolated fetal ventriculomegaly measured below 12 mm be viewed as a variant of the norm? Results of a 5-year experience in a prenatal referral center
Lavongtheung, Anaïs, Jedraszak, Guillaume, Naepels, Philippe, Tourneux, Pierre, Gondry-Jouet, Catherine, Le Moing, Anne-Gaëlle, Gondry, Jean, Chevreau, Julien
Published in The journal of maternal-fetal & neonatal medicine (02.09.2018)
Published in The journal of maternal-fetal & neonatal medicine (02.09.2018)
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Journal Article
Non-Ambulant Duchenne Patients Theoretically Treatable by Exon 53 Skipping have Severe Phenotype
Servais, Laurent, Montus, Marie, Guiner, Caroline Le, Ben Yaou, Rabah, Annoussamy, Mélanie, Moraux, Amélie, Hogrel, Jean-Yves, Seferian, Andreea M., Zehrouni, Karima, Le Moing, Anne-Gaëlle, Gidaro, Teresa, Vanhulle, Catherine, Laugel, Vincent, Butoianu, Nina, Cuisset, Jean-Marie, Sabouraud, Pascal, Cances, Claude, Klein, Andrea, Leturcq, France, Moullier, Philippe, Voit, Thomas
Published in Journal of neuromuscular diseases (02.09.2015)
Published in Journal of neuromuscular diseases (02.09.2015)
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Journal Article
Molecular characterization of a cohort of 73 patients with infantile spasms syndrome
Boutry-Kryza, Nadia, Labalme, Audrey, Ville, Dorothee, de Bellescize, Julitta, Touraine, Renaud, Prieur, Fabienne, Dimassi, Sarra, Poulat, Anne-Lise, Till, Marianne, Rossi, Massimiliano, Bourel-Ponchel, Emilie, Delignières, Aline, Le Moing, Anne-Gaelle, Rivier, Clotilde, des Portes, Vincent, Edery, Patrick, Calender, Alain, Sanlaville, Damien, Lesca, Gaetan
Published in European journal of medical genetics (01.02.2015)
Published in European journal of medical genetics (01.02.2015)
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Journal Article
EGR2 mutation enhances phenotype spectrum of Dejerine–Sottas syndrome
Gargaun, Elena, Seferian, Andreea Mihaela, Cardas, Ruxandra, Le Moing, Anne-Gaelle, Delanoe, Catherine, Nectoux, Juliette, Nelson, Isabelle, Bonne, Gisèle, Bihoreau, Marie-Thérèse, Deleuze, Jean-François, Boland, Anne, Masson, Cécile, Servais, Laurent, Gidaro, Teresa
Published in Journal of neurology (01.07.2016)
Published in Journal of neurology (01.07.2016)
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Journal Article
Prospective follow-up of a cohort of preterm infants<33 WG receiving ketamine for tracheal intubation in the delivery room: Neurological outcome at 1 and 2 years
Elalouf, C., Le Moing, A.-G., Fontaine, C., Leke, A., Kongolo, G., Gondry, J., Tourneux, P.
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.05.2018)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.05.2018)
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Journal Article
Longitudinal functional and NMR assessment of upper limbs in Duchenne muscular dystrophy
Hogrel, Jean-Yves, Wary, Claire, Moraux, Amélie, Azzabou, Noura, Decostre, Valérie, Ollivier, Gwenn, Canal, Aurélie, Lilien, Charlotte, Ledoux, Isabelle, Annoussamy, Mélanie, Reguiba, Nacera, Gidaro, Teresa, Le Moing, Anne Gaelle, Cardas, Ruxandra, Voit, Thomas, Carlier, Pierre G, Servais, Laurent
Published in Neurology (15.03.2016)
Published in Neurology (15.03.2016)
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Journal Article
Frequency and clinical relevance of MOG-antibodies in CSF in pediatric patients with MOG antibody-associated diseases
Galati, G., Pique, J., Horellou, P., Leroy, C., Poinsot, M., Marignier, R., Giorgi, L., Deiva, K., Maillart, Elisabeth, LE Moing, Anne-Gaëlle, Amsalem, Daniel, Villega, Fréderic, Peudenier, Sylviane, Nguyen-The Tich, Sylvie, Lepine, Anne, Meyer, Pierre, Vincent, Hélène, Renaldo, Florence, Aubart, Melodie, Auvin, Stéphane, DE Saint-Martin, Anne, Cheuret, Emmanuel, Castelnau, Pierre, Robin, Stéphanie, Ruet, Aurélie, Zephir, Hélène, Audoin, Bertrand, Ayrignac, Xavier, Laplaud, David, Cohen, Mickael, Papeix, Caroline, Bourre, Bertrand, Collongues, Nicolas, Ciron, Jonathan
Published in European journal of paediatric neurology (01.07.2024)
Published in European journal of paediatric neurology (01.07.2024)
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