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Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3170, doi. 10.1002/ajmg.a.34334
By:
- Piard, Juliette;
- Depienne, Christel;
- Keren, Boris;
- Fédirko, Estelle;
- Trouillard, Oriane;
- Charles, Perrine;
- Heron, Delphine
Publication type:
Article
Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism.
Published in:
Journal of Molecular Medicine, 2011, v. 89, n. 9, p. 915, doi. 10.1007/s00109-011-0758-y
By:
- Couarch, Philippe;
- Vernia, Santiago;
- Gourfinkel-An, Isabelle;
- Lesca, Gaëtan;
- Gataullina, Svetlana;
- Fedirko, Estelle;
- Trouillard, Oriane;
- Depienne, Christel;
- Dulac, Olivier;
- Steschenko, Dominique;
- Leguern, Eric;
- Sanz, Pascual;
- Baulac, Stéphanie
Publication type:
Article
Mental deficiency in three families with SPG4 spastic paraplegia.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 1, p. 97, doi. 10.1038/sj.ejhg.5201922
By:
- Ribaï, Pascale;
- Depienne, Christel;
- Fedirko, Estelle;
- Jothy, Anne-Catherine;
- Viveweger, Caterine;
- Hahn-Barma, Valérie;
- Brice, Alexis;
- Durr, Alexandra
Publication type:
Article
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
Published in:
Brain: A Journal of Neurology, 2012, v. 135, n. 10, p. 2980, doi. 10.1093/brain/aws240
By:
- Klebe, Stephan;
- Depienne, Christel;
- Gerber, Sylvie;
- Challe, Georges;
- Anheim, Mathieu;
- Charles, Perrine;
- Fedirko, Estelle;
- Lejeune, Elodie;
- Cottineau, Julien;
- Brusco, Alfredo;
- Dollfus, Hélène;
- Chinnery, Patrick F.;
- Mancini, Cecilia;
- Ferrer, Xavier;
- Sole, Guilhem;
- Destée, Alain;
- Mayer, Jean-Michel;
- Fontaine, Bertrand;
- Seze, Jérôme de;
- Clanet, Michel
Publication type:
Article
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.
Published in:
Brain: A Journal of Neurology, 2009, v. 132, n. 7, p. 1753
By:
- Clot, Fabienne;
- Grabli, David;
- Cazeneuve, CÃ©cile;
- Roze, Emmanuel;
- Castelnau, Pierre;
- Chabrol, Brigitte;
- Landrieu, Pierre;
- Nguyen, Karine;
- Ponsot, GÃ©rard;
- Abada, Myriem;
- Doummar, Diane;
- Damier, Philippe;
- Gil, Roger;
- Thobois, StÃ©phane;
- Ward, Alana J.;
- Hutchinson, Michael;
- Toutain, Annick;
- Picard, Fabienne;
- Camuzat, AgnÃ¨s;
- Fedirko, Estelle
Publication type:
Article
REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.
Published in:
Human Mutation, 2011, v. 32, n. 10, p. 1118, doi. 10.1002/humu.21542
By:
- Goizet, Cyril;
- Depienne, Christel;
- Benard, Giovanni;
- Boukhris, Amir;
- Mundwiller, Emeline;
- Solé, Guilhem;
- Coupry, Isabelle;
- Pilliod, Julie;
- Martin-Négrier, Marie-Laure;
- Fedirko, Estelle;
- Forlani, Sylvie;
- Cazeneuve, Cécile;
- Hannequin, Didier;
- Charles, Perrine;
- Feki, Imed;
- Pinel, Jean-François;
- Ouvrard-Hernandez, Anne-Marie;
- Lyonnet, Stanislas;
- Ollagnon-Roman, Elisabeth;
- Yaouanq, Jacqueline
Publication type:
Article
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.
Published in:
Human Mutation, 2009, v. 30, n. 3, p. E500, doi. 10.1002/humu.20945
By:
- Denora, Paola S.;
- Schlesinger, David;
- Casali, Carlo;
- Kok, Fernando;
- Tessa, Alessandra;
- Boukhris, Amir;
- Azzedine, Hamid;
- Dotti, Maria Teresa;
- Bruno, Claudio;
- Truchetto, Jeremy;
- Biancheri, Roberta;
- Fedirko, Estelle;
- Di Rocco, Maja;
- Bueno, Clarissa;
- Malandrini, Alessandro;
- Battini, Roberta;
- Sickl, Elisabeth;
- de Leva, Maria Fulvia;
- Boespflug-Tanguy, Odile;
- Silvestri, Gabriella
Publication type:
Article
Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.
Published in:
Human Mutation, 2009, v. 30, n. 3, p. 397, doi. 10.1002/humu.20876
By:
- Saint-Martin, Cécile;
- Gauvain, Grégory;
- Teodorescu, Georgeta;
- Gourfinkel-An, Isabelle;
- Fedirko, Estelle;
- Weber, Yvonne G.;
- Maljevic, Snezana;
- Ernst, Jan-Peter;
- Garcia-Olivares, Jennie;
- Fahlke, Christoph;
- Nabbout, Rima;
- LeGuern, Eric;
- Lerche, Holger;
- Poncer, Jean Christophe;
- Depienne, Christel
Publication type:
Article
Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy.
Published in:
Human Mutation, 2006, v. 27, n. 4, p. 389, doi. 10.1002/humu.9419
By:
- Depienne, Christel;
- Arzimanoglou, Alexis;
- Trouillard, Oriane;
- Fedirko, Estelle;
- Baulac, Stéphanie;
- Saint-Martin, Cécile;
- Ruberg, Merle;
- Dravet, Charlotte;
- Nabbout, Rima;
- Baulac, Michel;
- Gourfinkel-An, Isabelle;
- Leguern, Eric
Publication type:
Article
A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP.
Published in:
2007
By:
- Depienne, Christel;
- Fedirko, Estelle;
- Faucheux, Jean-Marc;
- Forlani, Sylvie;
- Bricka, Bernard;
- Goizet, Cyril;
- Lesourd, Sylvie;
- Stevanin, Giovanni;
- Ruberg, Merle;
- Durr, Alexandra;
- Brice, Alexis
Publication type:
Letter

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