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Early magnetic resonance imaging to detect presymptomatic leptomeningeal angioma in children with suspected Sturge-Weber syndrome.
Published in:
2020
By:
- Bar, Claire;
- Pedespan, Jean‐Michel;
- Boccara, Olivia;
- Garcelon, Nicolas;
- Levy, Raphael;
- Grévent, David;
- Boddaert, Nathalie;
- Nabbout, Rima;
- Pedespan, Jean-Michel
Publication type:
journal article
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0244-7
By:
- Sabourdy, Frédérique;
- Mourey, Lionel;
- Trionnaire, Emmanuelle Le;
- Bednarek, Nathalie;
- Caillaud, Catherine;
- Yves Chaix;
- Delrue, Marie-Ange;
- Dusser, Anne;
- Froissart, Roseline;
- Garnotel, Roselyne;
- Guffon, Nathalie;
- Megarbane, André;
- de Baulny, Hélène Ogier;
- Pédespan, Jean-Michel;
- Pichard, Samia;
- Valayannopoulos, Vassili;
- Verloes, Alain;
- Levade, Thierry
Publication type:
Article
Children often present with infantile spasms after herpetic encephalitis.
Published in:
Epilepsia (Series 4), 2013, v. 54, n. 9, p. 1571, doi. 10.1111/epi.12258
By:
- Aznar Laín, Gemma;
- Dellatolas, Georges;
- Eisermann, Monika;
- Boddaert, Nathalie;
- Chiron, Catherine;
- Bulteau, Christine;
- Monteiro, José P.;
- An, Isabelle;
- Pédespan, Jean‐Michel;
- Cancès, Claude;
- Peudenier, Sylvianne;
- Barthez, Marie‐Anne;
- Milh, Mathieu;
- Dorfmuller, Georges;
- Héron, Bénédicte;
- Nabbout, Rima;
- Grevent, David;
- Dulac, Olivier
Publication type:
Article
Magnetic resonance imaging diagnosis of subependymal giant cell astrocytomas in follow-up of children with tuberous sclerosis complex: should we always use contrast enhancement?
Published in:
2020
By:
- Gaillard, Anne-Lise;
- Crombé, Amandine;
- Jecko, Vincent;
- Bessou, Pierre;
- Havez, Marion;
- Pédespan, Jean-Michel;
- Van Gils, Julien;
- Chateil, Jean-François
Publication type:
journal article
EFFECTS: an expanded access program of everolimus for patients with subependymal giant cell astrocytoma associated with tuberous sclerosis complex.
Published in:
2016
By:
- Fogarasi, Andras;
- De Waele, Liesbeth;
- Bartalini, Gabriella;
- Jozwiak, Sergiusz;
- Laforgia, Nicola;
- Verhelst, Helene;
- Petrak, Borivoj;
- Pedespan, Jean-Michel;
- Witt, Olaf;
- Castellana, Ramon;
- Crippa, Stefania;
- Gislimberti, Gabriella;
- Gyorsok, Zsuzsanna
Publication type:
journal article
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.
Published in:
2009
By:
- Lugtenberg, Dorien;
- Kleefstra, Tjitske;
- Oudakker, Astrid R.;
- Nillesen, Willy M;
- Yntema, Helger G.;
- Tzschach, Andreas;
- Raynaud, Martine;
- Rating, Dietz;
- Journel, Hubert;
- Chelly, Jamel;
- Goizet, Cyril;
- Lacombe, Didier;
- Pedespan, Jean-Michel;
- Echenne, Bernard;
- Tariverdian, Gholamali;
- O'Rourke, Declan;
- King, Mary D.;
- Green, Andrew;
- van Kogelenberg, Margriet;
- Van Esch, Hilde
Publication type:
Correction Notice
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 4, p. 444, doi. 10.1038/ejhg.2008.208
By:
- Lugtenberg, Dorien;
- Kleefstra, Tjitske;
- Oudakker, Astrid R.;
- Nillesen, Willy M.;
- Yntema, Helger G.;
- Tzschach, Andreas;
- Raynaud, Martine;
- Rating, Dietz;
- Journel, Hubert;
- Chelly, Jamel;
- Goizet, Cyril;
- Lacombe, Didier;
- Pedespan, Jean-Michel;
- Echenne, Bernard;
- Tariverdian, Gholamali;
- O'Rourke, Declan;
- King, Mary D;
- Green, Andrew;
- van Kogelenberg, Margriet;
- Van Esch, Hilde
Publication type:
Article
A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy.
Published in:
European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1054, doi. 10.1038/sj.ejhg.5201885
By:
- Vezain, Myriam;
- Saugier-Veber, Pascale;
- Melki, Judith;
- Toutain, Annick;
- Bieth, Eric;
- Husson, Marie;
- Pedespan, Jean-Michel;
- Viollet, Louis;
- Pénisson-Besnier, Isabelle;
- Fehrenbach, Séverine;
- Bou, Jacqueline;
- Frébourg, Thierry;
- Tosi, Mario
Publication type:
Article
Clinical study of 19 patients with SCN8A‐related epilepsy: Two modes of onset regarding EEG and seizures.
Published in:
Epilepsia (Series 4), 2019, v. 60, n. 5, p. 845, doi. 10.1111/epi.14727
By:
- Denis, Julien;
- Villeneuve, Nathalie;
- Cacciagli, Pierre;
- Mignon‐Ravix, Cecile;
- Lacoste, Caroline;
- Lefranc, Jeremie;
- Napuri, Sylvia;
- Damaj, Lena;
- Villega, Frederic;
- Pedespan, Jean‐Michel;
- Moutton, Sebastien;
- Mignot, Cyril;
- Doummar, Diane;
- Lion‐François, Laurence;
- Gataullina, Svetlana;
- Dulac, Olivier;
- Martin, Melanie;
- Gueden, Sophie;
- Lesca, Gaetan;
- Julia, Sophie
Publication type:
Article
ADHD in childhood epilepsy: Clinical determinants of severity and of the response to methylphenidate.
Published in:
Epilepsia (Series 4), 2016, v. 57, n. 7, p. 1069, doi. 10.1111/epi.13420
By:
- Rheims, Sylvain;
- Herbillon, Vania;
- Villeneuve, Nathalie;
- Auvin, Stéphane;
- Napuri, Silvia;
- Cances, Claude;
- Berquin, Patrick;
- Castelneau, Pierre;
- Nguyen The Tich, Sylvie;
- Villega, Frédéric;
- Isnard, Hervé;
- Nabbout, Rima;
- Gaillard, Ségolène;
- Mercier, Catherine;
- Kassai, Behrouz;
- Arzimanoglou, Alexis;
- Pedespan, Jean‐Michel;
- Bellescize, Julitta;
- Keo‐Kosal, Pascale;
- Panagiotakaki, Eleni
Publication type:
Article
Epilepsy in young Tsc1<sup> +/−</sup> mice exhibits age-dependent expression that mimics that of human tuberous sclerosis complex.
Published in:
Epilepsia (Series 4), 2016, v. 57, n. 4, p. 648, doi. 10.1111/epi.13325
By:
- Gataullina, Svetlana;
- Lemaire, Eric;
- Wendling, Fabrice;
- Kaminska, Anna;
- Watrin, Françoise;
- Riquet, Audrey;
- Ville, Dorothée;
- Moutard, Marie‐Laure;
- Saint Martin, Anne;
- Napuri, Silvia;
- Pedespan, Jean‐Michel;
- Eisermann, Monika;
- Bahi‐Buisson, Nadia;
- Nabbout, Rima;
- Chiron, Catherine;
- Dulac, Olivier;
- Huberfeld, Gilles
Publication type:
Article
Association of abnormal explicit sense of agency with cerebellar impairment in myoclonus-dystonia.
Published in:
Brain Communications, 2024, v. 6, n. 2, p. 1, doi. 10.1093/braincomms/fcae105
By:
- Tarrano, Clément;
- Galléa, Cécile;
- Delorme, Cécile;
- McGovern, Eavan M;
- Atkinson-Clement, Cyril;
- Barnham, Isaac Jarratt;
- Brochard, Vanessa;
- Thobois, Stéphane;
- Tranchant, Christine;
- Grabli, David;
- Degos, Bertrand;
- Corvol, Jean Christophe;
- Pedespan, Jean-Michel;
- Krystkowiak, Pierre;
- Houeto, Jean-Luc;
- Degardin, Adrian;
- Defebvre, Luc;
- Valabrègue, Romain;
- Beranger, Benoit;
- Apartis, Emmanuelle
Publication type:
Article
Dissociation in reactive and proactive inhibitory control in Myoclonus dystonia.
Published in:
Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-70926-x
By:
- Atkinson-Clement, Cyril;
- Tarrano, Clement;
- Porte, Camille-Albane;
- Wattiez, Nicolas;
- Delorme, Cécile;
- McGovern, Eavan M.;
- Brochard, Vanessa;
- Thobois, Stéphane;
- Tranchant, Christine;
- Grabli, David;
- Degos, Bertrand;
- Corvol, Jean-Christophe;
- Pedespan, Jean-Michel;
- Krystkoviak, Pierre;
- Houeto, Jean-Luc;
- Degardin, Adrian;
- Defebvre, Luc;
- Valabregue, Romain;
- Rosso, Charlotte;
- Apartis, Emmanuelle
Publication type:
Article
Slow Titration of Cannabidiol Add-On in Drug-Resistant Epilepsies Can Improve Safety With Maintained Efficacy in an Open-Label Study.
Published in:
Frontiers in Neurology, 2020, p. N.PAG, doi. 10.3389/fneur.2020.00829
By:
- D'Onofrio, Gianluca;
- Kuchenbuch, Mathieu;
- Hachon-Le Camus, Caroline;
- Desnous, Béatrice;
- Staath, Véronique;
- Napuri, Sylvia;
- Ville, Dorothée;
- Pedespan, Jean-Michel;
- Lépine, Anne;
- Cances, Claude;
- de Saint-Martin, Anne;
- Teng, Théo;
- Chemaly, Nicole;
- Milh, Mathieu;
- Villeneuve, Nathalie;
- Nabbout, Rima
Publication type:
Article
Tactile Temporal Discrimination Is Impaired in Myoclonus‐Dystonia.
Published in:
Movement Disorders, 2020, v. 35, n. 12, p. 2356, doi. 10.1002/mds.28253
By:
- Tarrano, Clément;
- Lamy, Jean‐Charles;
- Delorme, Cécile;
- McGovern, Eavan M.;
- Atkinson‐Clement, Cyril;
- Brochard, Vanessa;
- Thobois, Stéphane;
- Tranchant, Christine;
- Grabli, David;
- Degos, Bertrand;
- Corvol, Jean‐Christophe;
- Pedespan, Jean‐Michel;
- Krystkoviak, Pierre;
- Houeto, Jean‐Luc;
- Degardin, Adrian;
- Defebvre, Luc;
- Apartis, Emmanuelle;
- Vidailhet, Marie;
- Roze, Emmanuel;
- Worbe, Yulia
Publication type:
Article
Visual sensory processing is altered in myoclonus dystonia.
Published in:
2020
By:
- Tarrano, Clément;
- Wattiez, Nicolas;
- Delorme, Cécile;
- McGovern, Eavan M.;
- Brochard, Vanessa;
- Thobois, Stéphane;
- Tranchant, Christine;
- Grabli, David;
- Degos, Bertrand;
- Corvol, Jean‐Christophe;
- Pedespan, Jean‐Michel;
- Krystkoviak, Pierre;
- Houeto, Jean‐Luc;
- Degardin, Adrian;
- Defebvre, Luc;
- Valabrègue, Romain;
- Vidailhet, Marie;
- Pouget, Pierre;
- Roze, Emmanuel;
- Worbe, Yulia
Publication type:
journal article
Refractory Occipital Lobe Epilepsy Treated by Surgery in a Child with Chronic Encephalitis.
Published in:
Pediatric Neurosurgery, 2007, v. 43, n. 2, p. 130, doi. 10.1159/000098387
By:
- Rougier, Alain;
- Vital, Anne;
- Michel, Véronique;
- Chateil, Jean François;
- Husson, Marie;
- Pedespan, Jean-Michel
Publication type:
Article
DNA repair functional analyses of NBN hypomorphic variants associated with NBN‐related infertility.
Published in:
Human Mutation, 2020, v. 41, n. 3, p. 608, doi. 10.1002/humu.23955
By:
- Fiévet, Alice;
- Bellanger, Dorine;
- Zahed, Laila;
- Burglen, Lydie;
- Derrien, Anne‐Céline;
- Dubois d'Enghien, Catherine;
- Lespinasse, James;
- Parfait, Béatrice;
- Pedespan, Jean‐Michel;
- Rieunier, Guillaume;
- Stoppa‐Lyonnet, Dominique;
- Stern, Marc‐Henri
Publication type:
Article
Three new cases of ataxia‐telangiectasia‐like disorder: No impairment of the ATM pathway, but S‐phase checkpoint defect.
Published in:
Human Mutation, 2019, v. 40, n. 10, p. 1690, doi. 10.1002/humu.23773
By:
- Fiévet, Alice;
- Bellanger, Dorine;
- Valence, Stéphanie;
- Mobuchon, Lenha;
- Afenjar, Alexandra;
- Giuliano, Fabienne;
- Dubois d'Enghien, Catherine;
- Parfait, Béatrice;
- Pedespan, Jean‐Michel;
- Auger, Nathalie;
- Rieunier, Guillaume;
- Collet, Agnès;
- Burglen, Lydie;
- Stoppa‐Lyonnet, Dominique;
- Stern, Marc‐Henri
Publication type:
Article
Prenatal diagnosis of schizencephaly by fetal magnetic resonance imaging.
Published in:
2001
By:
- Denis, Delphine;
- Maugey-Laulom, Brigitte;
- Carles, Dominique;
- Pedespan, Jean-Michel;
- Brun, Muriel;
- Chateil, Jean-François;
- Denis, D;
- Maugey-Laulom, B;
- Carles, D;
- Pedespan, J M;
- Brun, M;
- Chateil, J F
Publication type:
journal article

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