OpenURL Connection Search

Select item for more details and to access through your institution.

Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 8, p. 4294, doi. 10.3390/ijms23084294
By:
- 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
Publication type:
Article
Effects of Methylphenidate on Default-Mode Network/Task-Positive Network Synchronization in Children With ADHD.
Published in:
2017
By:
- 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
Publication type:
journal article
EML1‐associated brain overgrowth syndrome with ribbon‐like heterotopia.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 627, doi. 10.1002/ajmg.c.31751
By:
- 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.
Publication type:
Article
Kleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutation.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3877, doi. 10.1002/ajmg.a.62448
By:
- Jobic, Florence;
- Lacot‐Leriche, Emilie;
- Piton, Amélie;
- Le Moing, Anne‐Gaëlle;
- Mathieu‐Dramard, Michèle;
- Costantini, Sara;
- Morin, Gilles;
- Jedraszak, Guillaume
Publication type:
Article
Upper Limb Evaluation and One-Year Follow Up of Non-Ambulant Patients with Spinal Muscular Atrophy: An Observational Multicenter Trial.
Published in:
PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0121799
By:
- 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
Publication type:
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.
Published in:
PLoS ONE, 2015, v. 10, n. 2, p. 1, doi. 10.1371/journal.pone.0113999
By:
- 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
Publication type:
Article
A Movement Monitor Based on Magneto-Inertial Sensors for Non-Ambulant Patients with Duchenne Muscular Dystrophy: A Pilot Study in Controlled Environment.
Published in:
PLoS ONE, 2016, v. 11, n. 6, p. 1, doi. 10.1371/journal.pone.0156696
By:
- Le Moing, Anne-Gaëlle;
- Seferian, Andreea Mihaela;
- Moraux, Amélie;
- Annoussamy, Mélanie;
- Dorveaux, Eric;
- Gasnier, Erwan;
- Hogrel, Jean-Yves;
- Voit, Thomas;
- Vissière, David;
- Servais, Laurent
Publication type:
Article
Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human.
Published in:
Nature Neuroscience, 2014, v. 17, n. 7, p. 923, doi. 10.1038/nn.3729
By:
- 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
Publication type:
Article

Found: 8