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The three stages of epilepsy in patients with CDKL5 mutations.
Published in:
Epilepsia (Series 4), 2008, v. 49, n. 6, p. 1027, doi. 10.1111/j.1528-1167.2007.01520.x
By:
- Bahi-Buisson, Nadia;
- Kaminska, Anna;
- Boddaert, Nathalie;
- Rio, Marlène;
- Afenjar, Alexandra;
- Gérard, Marion;
- Giuliano, Fabienne;
- Motte, Jacques;
- Héron, Delphine;
- Morel, Marie Ange N'Guyen;
- Plouin, Perrine;
- Richelme, Christian;
- des Portes, Vincent;
- Dulac, Olivier;
- Philippe, Christophe;
- Chiron, Catherine;
- Nabbout, Rima;
- Bienvenu, Thierry
Publication type:
Article
Case Report: Anti-NMDAR Encephalitis Presenting With Catatonic Symptoms in an Adolescent Female Patient With a History of Traumatic Exposure.
Published in:
Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2022.784306
By:
- Bogdan, Anamaria;
- Askenazy, Florence;
- Richelme, Christian;
- Gindt, Morgane;
- Thümmler, Susanne;
- Fernandez, Arnaud
Publication type:
Article
Neurodevelopmental and immunological features in a child presenting 22q13.2 microdeletion.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 792, doi. 10.1002/ajmg.a.37470
By:
- Thümmler, Susanne;
- Giuliano, Fabienne;
- Karmous‐Benailly, Houda;
- Richelme, Christian;
- Fernandez, Arnaud;
- De Georges, Christine;
- Askenazy, Florence
Publication type:
Article
Nusinersen chez l'enfant : évolution ou révolution ?: Utilisation clinique des traitements innovants, repositionnés ou hors AMM : le vécu du terrain (2).
Published in:
Médecine Sciences, 2019, v. 35, p. 22, doi. 10.1051/medsci/2019049
By:
- Richelme, Christian
Publication type:
Article
Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9-deficient mild myopathy.
Published in:
2017
By:
- Fragaki, Konstantina;
- Chaussenot, Annabelle;
- Boutron, Audrey;
- Bannwarth, Sylvie;
- Cochaud, Charlotte;
- Richelme, Christian;
- Sacconi, Sabrina;
- Paquis‐Flucklinger, Veronique;
- Paquis-Flucklinger, Veronique
Publication type:
Case Study
Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 542, doi. 10.1038/ejhg.2013.171
By:
- Rouzier, Cécile;
- Chaussenot, Annabelle;
- Serre, Valérie;
- Fragaki, Konstantina;
- Bannwarth, Sylvie;
- Ait-El-Mkadem, Samira;
- Attarian, Shahram;
- Kaphan, Elsa;
- Cano, Aline;
- Delmont, Emilien;
- Sacconi, Sabrina;
- de Camaret, Bénédicte Mousson;
- Rio, Marlène;
- Lebre, Anne-Sophie;
- Jardel, Claude;
- Deschamps, Romain;
- Richelme, Christian;
- Pouget, Jean;
- Chabrol, Brigitte;
- Paquis-Flucklinger, Véronique
Publication type:
Article
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
Published in:
2007
By:
- Naïmi, Mourad;
- Bannwarth, Sylvie;
- Procaccio, Vincent;
- Pouget, Jean;
- Desnuelle, Claude;
- Pellissier, Jean-François;
- Rötig, Agnes;
- Munnich, Arnold;
- Calvas, Patrick;
- Richelme, Christian;
- Jonveaux, Philippe;
- Castelnovo, Giovanni;
- Simon, Mariella;
- Clanet, Michel;
- Wallace, Douglas;
- Paquis-Flucklinger, Véronique
Publication type:
Correction Notice
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
Published in:
European Journal of Human Genetics, 2006, v. 14, n. 8, p. 917, doi. 10.1038/sj.ejhg.5201627
By:
- Naïmi, Mourad;
- Bannwarth, Sylvie;
- Procaccio, Vincent;
- Pouget, Jean;
- Desnuelle, Claude;
- Pellissier, Jean-François;
- Rötig, Agnes;
- Munnich, Arnold;
- Calvas, Patrick;
- Richelme, Christian;
- Jonveaux, Philippe;
- Castelnovo, Giovanni;
- Simon, Melvin;
- Clanet, Michel;
- Wallace, Douglas;
- Paquis-Flucklinger, Véronique
Publication type:
Article
Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study.
Published in:
2020
By:
- Audic, Frédérique;
- de la Banda, Marta Gomez Garcia;
- Bernoux, Delphine;
- Ramirez-Garcia, Paola;
- Durigneux, Julien;
- Barnerias, Christine;
- Isapof, Arnaud;
- Cuisset, Jean-Marie;
- Cances, Claude;
- Richelme, Christian;
- Vuillerot, Carole;
- Laugel, Vincent;
- Ropars, Juliette;
- Altuzarra, Cécilia;
- Espil-Taris, Caroline;
- Walther-Louvier, Ulrike;
- Sabouraud, Pascal;
- Chouchane, Mondher;
- Vanhulle, Catherine;
- Trommsdorff, Valérie
Publication type:
journal article
Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03326-3
By:
- Desguerre, Isabelle;
- Barrois, Rémi;
- Audic, Frédérique;
- Barnerias, Christine;
- Chabrol, Brigitte;
- Davion, Jean Baptiste;
- Durigneux, Julien;
- Espil-Taris, Caroline;
- Gomez-Garcia de la Banda, Marta;
- Guichard, Marine;
- Isapof, Arnaud;
- Nougues, Marie Christine;
- Laugel, Vincent;
- Le Goff, Laure;
- Mercier, Sandra;
- Pervillé, Anne;
- Richelme, Christian;
- Thibaud, Marie;
- Sarret, Catherine;
- Schweitzer, Cyril
Publication type:
Article
The Young Adult Human Brain: An MRI-based Morphometric Analysis.
Published in:
Cerebral Cortex, 1994, v. 4, n. 4, p. 344
By:
- Filipek, Pauline A.;
- Richelme, Christian;
- Kennedy, David N.;
- Caviness, Verne S.
Publication type:
Article

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