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Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome.
Published in:
Molecular Syndromology, 2021, v. 12, n. 6, p. 342, doi. 10.1159/000517253
By:
- Mégarbané, André;
- Hana, Sayeeda;
- Mégarbané, Hala;
- Castro, Christel;
- Baulande, Sylvain;
- Criqui, Audrey;
- Roëckel-Trevisiol, Nathalie;
- Dagher, Christel;
- Al-Ali, Mahmoud Taleb;
- Desvignes, Jean-Pierre;
- Mahfoud, Daniel;
- El-Hayek, Stephany;
- Delague, Valérie
Publication type:
Article
Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 5, p. 1844, doi. 10.1093/brain/awac402
By:
- El-Bazzal, Lara;
- Ghata, Adeline;
- Estève, Clothilde;
- Gadacha, Jihane;
- Quintana, Patrice;
- Castro, Christel;
- Roeckel-Trévisiol, Nathalie;
- Lembo, Frédérique;
- Lenfant, Nicolas;
- Mégarbané, André;
- Borg, Jean-Paul;
- Lévy, Nicolas;
- Bartoli, Marc;
- Poitelon, Yannick;
- Roubertoux, Pierre L;
- Delague, Valérie;
- Bernard-Marissal, Nathalie
Publication type:
Article
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.
Published in:
2015
By:
- Jobling, Rebekah K;
- Assoum, Mirna;
- Gakh, Oleksandr;
- Blaser, Susan;
- Raiman, Julian A;
- Mignot, Cyril;
- Roze, Emmanuel;
- Dürr, Alexandra;
- Brice, Alexis;
- Lévy, Nicolas;
- Prasad, Chitra;
- Paton, Tara;
- Paterson, Andrew D;
- Roslin, Nicole M;
- Marshall, Christian R;
- Desvignes, Jean-Pierre;
- Roëckel-Trevisiol, Nathalie;
- Scherer, Stephen W;
- Rouleau, Guy A;
- Mégarbané, André
Publication type:
journal article
Functional Variant in Complement C3 Gene Promoter and Genetic Susceptibility to Temporal Lobe Epilepsy and Febrile Seizures.
Published in:
PLoS ONE, 2010, v. 5, n. 9, p. 1, doi. 10.1371/journal.pone.0012740
By:
- Jamali, Sarah;
- Salzmann, Annick;
- Perroud, Nader;
- Ponsole-Lenfant, Magali;
- Cillario, Jennifer;
- Roll, Patrice;
- Roeckel-Trevisiol, Nathalie;
- Crespel, Ariel;
- Balzar, Jorg;
- Schlachter, Kurt;
- Gruber-Sedlmayr, Ursula;
- Pataraia, Ekaterina;
- Baumgartner, Christoph;
- Zimprich, Alexander;
- Zimprich, Fritz;
- Malafosse, Alain;
- Szepetowski, Pierre
Publication type:
Article
Large-scale expression study of human mesial temporal lobe epilepsy: evidence for dysregulation of the neurotransmission and complement systems in the entorhinal cortex.
Published in:
Brain: A Journal of Neurology, 2006, v. 129, n. 3, p. 625, doi. 10.1093/brain/awl001
By:
- Sarah Jamali;
- Fabrice Bartolomei;
- Andrée Robaglia-Schlupp;
- Annick Massacrier;
- Jean-Claude Peragut;
- Jean Régis;
- Henri Dufour;
- Rivka Ravid;
- Patrice Roll;
- Sandrine Pereira;
- Barbara Royer;
- Nathalie Roeckel-Trevisiol;
- Marc Fontaine;
- Maxime Guye;
- José Boucraut;
- Patrick Chauvel;
- Pierre Cau;
- Pierre Szepetowski
Publication type:
Article
The Prader-Willi syndrome murine imprinting center is not involved in the spatio-temporal transcriptional regulation of the Necdin gene.
Published in:
BMC Genetics, 2005, v. 6, p. 1, doi. 10.1186/1471-2156-6-1
By:
- Watrin, Françoise;
- Le Meur, Elodie;
- Roeckel, Nathalie;
- Ripoche, Marie-Anne;
- Dandolo, Luisa;
- Muscatelli, Françoise
Publication type:
Article
SRPX2 mutations in disorders of language cortex and cognition.
Published in:
Human Molecular Genetics, 2006, v. 15, n. 7, p. 1195, doi. 10.1093/hmg/ddl035
By:
- Roll, Patrice;
- Rudolf, Gabrielle;
- Pereira, Sandrine;
- Royer, Barbara;
- Scheffer, Ingrid E.;
- Massacrier, Annick;
- Valenti, Maria-Paola;
- Roeckel-Trevisiol, Nathalie;
- Jamali, Sarah;
- Beclin, Christophe;
- Seegmuller, Caroline;
- Metz-Lutz, Marie-Noëlle;
- Lemainque, Arnaud;
- Delepine, Marc;
- Caloustian, Christophe;
- Martin, Anne de Saint;
- Bruneau, Nadine;
- Depétris, Danièle;
- Mattéi, Marie-Geneviève;
- Flori, Elisabeth
Publication type:
Article
The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region.
Published in:
Human Molecular Genetics, 1999, v. 8, n. 13, p. 2497, doi. 10.1093/hmg/8.13.2497
By:
- Boccaccio, Irene;
- Glatt-Deeley, Heather;
- Watrin, Francoise;
- Roeckel, Nathalie;
- Lalande, Marc;
- Muscatelli, Francoise
Publication type:
Article
The major peripheral myelin protein zero gene: structure and localization in the cluster of Fcγ receptor genes on human chromosome 1q21.3 – q23.
Published in:
Human Molecular Genetics, 1993, v. 2, n. 12, p. 2051
By:
- Pham-Dinh, Danielle;
- Fourbil, Yves;
- Blanquet, Francolse;
- Mattél, Marie-Geneviève;
- Roeckel, Nathalie;
- Latour, Philippe;
- Chazot, Guy;
- Vandenberghe, Antoon;
- Dautigny, André
Publication type:
Article

Found: 9