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29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 391, doi. 10.1186/s13023-014-0207-4
By:
- Monin, Marie-Lorraine;
- Mignot, Cyril;
- De Lonlay, Pascale;
- Héron, Bénédicte;
- Masurel, Alice;
- Mathieu-Dramard, Michèle;
- Lenaerts, Catherine;
- Thauvin, Christel;
- Gérard, Marion;
- Roze, Emmanuel;
- Jacquette, Aurélia;
- Charles, Perrine;
- de Baracé, Claire;
- Drouin-Garraud, Valérie;
- Khau Van Kien, Philippe;
- Cormier-Daire, Valérie;
- Mayer, Michèle;
- Ogier, Hélène;
- Brice, Alexis;
- Seta, Nathalie
Publication type:
Article
29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.
Published in:
2014
By:
- Monin, Marie-Lorraine;
- Mignot, Cyril;
- De Lonlay, Pascale;
- Héron, Bénédicte;
- Masurel, Alice;
- Mathieu-Dramard, Michèle;
- Lenaerts, Catherine;
- Thauvin, Christel;
- Gérard, Marion;
- Roze, Emmanuel;
- Jacquette, Aurélia;
- Charles, Perrine;
- de Baracé, Claire;
- Drouin-Garraud, Valérie;
- Khau Van Kien, Philippe;
- Cormier-Daire, Valérie;
- Mayer, Michèle;
- Ogier, Hélène;
- Brice, Alexis;
- Seta, Nathalie
Publication type:
Journal Article
RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.
Published in:
Nature Genetics, 2009, v. 41, n. 7, p. 773, doi. 10.1038/ng.398
By:
- Henneke, Marco;
- Diekmann, Simone;
- Ohlenbusch, Andreas;
- Kaiser, Jens;
- Engelbrecht, Volkher;
- Kohlschütter, Alfried;
- Krätzner, Ralph;
- Madruga-Garrido, Marcos;
- Mayer, Michèle;
- Opitz, Lennart;
- Rodriguez, Diana;
- Rüschendorf, Franz;
- Schumacher, Johannes;
- Thiele, Holger;
- Thoms, Sven;
- Steinfeld, Robert;
- Nürnberg, Peter;
- Gärtner, Jutta
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
Early detection of median nerve compression by Electroneurography can improve outcome in children with Mucopolysaccharidoses.
Published in:
2018
By:
- Maincent, Kim;
- Héron, Bénédicte;
- Billette de Villemeur, Thierry;
- Mayer, Michèle
Publication type:
journal article
Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families.
Published in:
European Journal of Human Genetics, 2004, v. 12, n. 6, p. 483, doi. 10.1038/sj.ejhg.5201177
By:
- Viollet, Louis;
- Zarhrate, Mohammed;
- Maystadt, Isabelle;
- Estournet-Mathiaut, Brigitte;
- Barois, Annie;
- Desguerre, Isabelle;
- Mayer, Michèle;
- Chabrol, Brigitte;
- LeHeup, Bruno;
- Cusin, Veronica;
- de Villemeur, Thierry Billette;
- Bonneau, Dominique;
- Saugier-Veber, Pascale;
- Villepin, Anne Touzery-de;
- Delaubier, Anne;
- Kaplan, Jocelyne;
- Jeanpierre, Marc;
- Feingold, Joshué;
- Munnich, Arnold
Publication type:
Article
MFN2, a new gene responsible for mitochondrial DNA depletion.
Published in:
Brain: A Journal of Neurology, 2012, v. 135, n. 8, p. e223, doi. 10.1093/brain/aws111
By:
- Renaldo, Florence;
- Amati-Bonneau, Patrizia;
- Slama, Abdelhamid;
- Romana, Claudia;
- Forin, Veronique;
- Doummar, Diane;
- Barnerias, Christine;
- Bursztyn, Joseph;
- Mayer, Michèle;
- Khouri, Nejib;
- Billette de Villemeur, Thierry;
- Burglen, Lydie;
- Reynier, Pascal;
- Bernabe Gelot, Antoinette;
- Rodriguez, Diana
Publication type:
Article
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.
Published in:
Annals of Neurology, 2007, v. 62, n. 6, p. 666, doi. 10.1002/ana.21235
By:
- Bitoun, Marc;
- Bevilacqua, Jorge A.;
- Prudhon, Bernard;
- Maugenre, Svetlana;
- Taratuto, Ana Lia;
- Monges, Soledad;
- Lubieniecki, Fabiana;
- Cances, Claude;
- Uro-Coste, Emmanuelle;
- Mayer, Michèle;
- Fardeau, Michel;
- Romero, Norma B.;
- Guicheney, Pascale
Publication type:
Article
International retrospective natural history study of LMNA-related congenital muscular dystrophy.
Published in:
Brain Communications, 2021, v. 3, n. 3, p. 1, doi. 10.1093/braincomms/fcab075
By:
- Yaou, Rabah Ben;
- Yun, Pomi;
- Dabaj, Ivana;
- Norato, Gina;
- Donkervoort, Sandra;
- Hui Xiong;
- Nascimento, Andrés;
- Maggi, Lorenzo;
- Sarkozy, Anna;
- Monges, Soledad;
- Bertoli, Marta;
- Hirofumi Komaki;
- Mayer, Michèle;
- Mercuri, Eugenio;
- Zanoteli, Edmar;
- Castiglioni, Claudia;
- Marini-Bettolo, Chiara;
- D'Amico, Adele;
- Deconinck, Nicolas;
- Desguerre, Isabelle
Publication type:
Article
A Novel Lamin A Mutant Responsible for Congenital Muscular Dystrophy Causes Distinct Abnormalities of the Cell Nucleus.
Published in:
PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0169189
By:
- Barateau, Alice;
- Vadrot, Nathalie;
- Vicart, Patrick;
- Ferreiro, Ana;
- Mayer, Michèle;
- Héron, Delphine;
- Vigouroux, Corinne;
- Buendia, Brigitte
Publication type:
Article
Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 20, p. 3779, doi. 10.1093/hmg/ddp320
By:
- Daoud, Fatma;
- Angeard, Nathalie;
- Demerre, Bénédicte;
- Martie, Itxaso;
- Benyaou, Rabah;
- Leturcq, France;
- Cossée, Mireille;
- Deburgrave, Nathalie;
- Saillour, Yoann;
- Tuffery, Sylvie;
- Urtizberea, Andoni;
- Toutain, Annick;
- Echenne, Bernard;
- Frischman, Martine;
- Mayer, Michèle;
- Desguerre, Isabelle;
- Estournet, Brigitte;
- Réveillère, Christian;
- Penisson-Besnier;
- Cuisset, Jean Marie
Publication type:
Article
Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping.
Published in:
Human Molecular Genetics, 1994, v. 3, n. 9, p. 1657
By:
- Hillaire, Dominique;
- Leclerc, Anne;
- Fauré, Sabine;
- Topaloglu, Haluk;
- Chiannllkulchaï, Nuchanard;
- Guicheney, Pascale;
- Grinas, Laurent;
- Legos, Patricia;
- Philpot, Joanne;
- Evangelista, Teresinha;
- Routon, Marie-Claude;
- Mayer, Michèle;
- Pellissier, Jean-Francols;
- Estournet, Brigitte;
- Barols, Annie;
- Hentati, Fayçal;
- Feingold, Nicole;
- S.Beckmann, Jacqui;
- Dubowitz, Victor;
- M.S.Tomé, Fernando
Publication type:
Article

Found: 13