De novo mutations in HCN1 cause early infantile epileptic encephalopathy
Nava, Caroline, Dalle, Carine, Rastetter, Agnès, Striano, Pasquale, de Kovel, Carolien G F, Nabbout, Rima, Cancès, Claude, Ville, Dorothée, Brilstra, Eva H, Gobbi, Giuseppe, Raffo, Emmanuel, Bouteiller, Delphine, Marie, Yannick, Trouillard, Oriane, Robbiano, Angela, Keren, Boris, Agher, Dahbia, Roze, Emmanuel, Lesage, Suzanne, Nicolas, Aude, Brice, Alexis, Baulac, Michel, Vogt, Cornelia, El Hajj, Nady, Schneider, Eberhard, Suls, Arvid, Weckhuysen, Sarah, Gormley, Padhraig, Lehesjoki, Anna-Elina, De Jonghe, Peter, Helbig, Ingo, Baulac, Stéphanie, Zara, Federico, Koeleman, Bobby P C, Haaf, Thomas, LeGuern, Eric, Depienne, Christel
Published in Nature genetics (01.06.2014)
Published in Nature genetics (01.06.2014)
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First Report of a Patient with MPS Type VII, Due to Novel Mutations in GUSB , Who Underwent Enzyme Replacement and Then Hematopoietic Stem Cell Transplantation
Dubot, Patricia, Sabourdy, Frédérique, Plat, Geneviève, Jubert, Charlotte, Cancès, Claude, Broué, Pierre, Touati, Guy, Levade, Thierry
Published in International journal of molecular sciences (28.10.2019)
Published in International journal of molecular sciences (28.10.2019)
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Children often present with infantile spasms after herpetic encephalitis
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
Published in Epilepsia (Copenhagen) (01.09.2013)
Published in Epilepsia (Copenhagen) (01.09.2013)
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Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study
Chabanon, Aurélie, Seferian, Andreea Mihaela, Daron, Aurore, Péréon, Yann, Cances, Claude, Vuillerot, Carole, De Waele, Liesbeth, Cuisset, Jean-Marie, Laugel, Vincent, Schara, Ulrike, Gidaro, Teresa, Gilabert, Stéphanie, Hogrel, Jean-Yves, Baudin, Pierre-Yves, Carlier, Pierre, Fournier, Emmanuel, Lowes, Linda Pax, Hellbach, Nicole, Seabrook, Timothy, Toledano, Elie, Annoussamy, Mélanie, Servais, Laurent
Published in PloS one (26.07.2018)
Published in PloS one (26.07.2018)
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Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome
Rice, Gillian I, Meyzer, Candice, Bouazza, Naïm, Hully, Marie, Boddaert, Nathalie, Semeraro, Michaela, Zeef, Leo A.H, Rozenberg, Flore, Bondet, Vincent, Duffy, Darragh, Llibre, Alba, Baek, Jinmi, Sambe, Mame N, Henry, Elodie, Jolaine, Valerie, Barnerias, Christine, Barth, Magalie, Belot, Alexandre, Cances, Claude, Debray, François-Guillaume, Doummar, Diane, Frémond, Marie-Louise, Kitabayashi, Naoki, Lepelley, Alice, Levrat, Virginie, Melki, Isabelle, Meyer, Pierre, Nougues, Marie-Christine, Renaldo, Florence, Rodero, Mathieu P, Rodriguez, Diana, Roubertie, Agathe, Seabra, Luis, Uggenti, Carolina, Abdoul, Hendy, Treluyer, Jean-Marc, Desguerre, Isabelle, Blanche, Stéphane, Crow, Yanick J
Published in The New England journal of medicine (06.12.2018)
Published in The New England journal of medicine (06.12.2018)
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Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly
Poirier, Karine, Lebrun, Nicolas, Broix, Loic, Tian, Guoling, Saillour, Yoann, Boscheron, Cécile, Parrini, Elena, Valence, Stephanie, Pierre, Benjamin Saint, Oger, Madison, Lacombe, Didier, Geneviève, David, Fontana, Elena, Darra, Franscesca, Cances, Claude, Barth, Magalie, Bonneau, Dominique, Bernadina, Bernardo Dalla, N'Guyen, Sylvie, Gitiaux, Cyril, Parent, Philippe, des Portes, Vincent, Pedespan, Jean Michel, Legrez, Victoire, Castelnau-Ptakine, Laetitia, Nitschke, Patrick, Hieu, Thierry, Masson, Cecile, Zelenika, Diana, Andrieux, Annie, Francis, Fiona, Guerrini, Renzo, Cowan, Nicholas J, Bahi-Buisson, Nadia, Chelly, Jamel
Published in Nature genetics (01.06.2013)
Published in Nature genetics (01.06.2013)
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SYNGAP1-DEE: A visual sensitive epilepsy
Lo Barco, Tommaso, Kaminska, Anna, Solazzi, Roberta, Cancés, Claude, Barcia, Giulia, Chemaly, Nicole, Fontana, Elena, Desguerre, Isabelle, Canafoglia, Laura, Hachon Le Camus, Caroline, Losito, Emma, Villard, Laurent, Eisermann, Monika, Dalla Bernardina, Bernardo, Villeneuve, Nathalie, Nabbout, Rima
Published in Clinical neurophysiology (01.04.2021)
Published in Clinical neurophysiology (01.04.2021)
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Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes
Hully, Marie, Lo Barco, Tommaso, Kaminska, Anna, Barcia, Giulia, Cances, Claude, Mignot, Cyril, Desguerre, Isabelle, Garcelon, Nicolas, Kabashi, Edor, Nabbout, Rima
Published in Genetics in medicine (01.05.2021)
Published in Genetics in medicine (01.05.2021)
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Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study
Freihuber, Cécile, Dahmani-Rabehi, Bahia, Brassier, Anaïs, Broué, Pierre, Cances, Claude, Chabrol, Brigitte, Eyer, Didier, Labarthe, François, Latour, Philippe, Levade, Thierry, Pichard, Samia, Sevin, Caroline, Vanier, Marie T, Héron, Bénédicte
Published in Orphanet journal of rare diseases (21.07.2023)
Published in Orphanet journal of rare diseases (21.07.2023)
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Natural history of Type 2 and 3 spinal muscular atrophy: 2‐year NatHis‐SMA study
Annoussamy, Mélanie, Seferian, Andreea M., Daron, Aurore, Péréon, Yann, Cances, Claude, Vuillerot, Carole, De Waele, Liesbeth, Laugel, Vincent, Schara, Ulrike, Gidaro, Teresa, Lilien, Charlotte, Hogrel, Jean‐Yves, Carlier, Pierre, Fournier, Emmanuel, Lowes, Linda, Gorni, Ksenija, Ly‐Le Moal, Myriam, Hellbach, Nicole, Seabrook, Timothy, Czech, Christian, Hermosilla, Ricardo, Servais, Laurent
Published in Annals of clinical and translational neurology (01.02.2021)
Published in Annals of clinical and translational neurology (01.02.2021)
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Skeletal Ryanodine Receptors Are Involved in Impaired Myogenic Differentiation in Duchenne Muscular Dystrophy Patients
Meyer, Pierre, Notarnicola, Cécile, Meli, Albano C, Matecki, Stefan, Hugon, Gérald, Salvador, Jérémy, Khalil, Mirna, Féasson, Léonard, Cances, Claude, Cottalorda, Jérôme, Desguerre, Isabelle, Cuisset, Jean-Marie, Sabouraud, Pascal, Lacampagne, Alain, Chevassus, Hugues, Rivier, François, Carnac, Gilles
Published in International journal of molecular sciences (30.11.2021)
Published in International journal of molecular sciences (30.11.2021)
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Confirmatory validation of the french version of the Duchenne Muscular Dystrophy module of the pediatric quality of life inventory (PedsQLTM3.0DMDfv)
Wallach, Elisabeth, Ehlinger, Virginie, Biotteau, Maelle, Walther-Louvier, Ulrike, Péréon, Yann, Vuillerot, Carole, Fontaine, Stephanie, Sabouraud, Pascal, Espil-Taris, Caroline, Cuisset, Jean-Marie, Laugel, Vincent, Baudou, Eloïse, Arnaud, Catherine, Cances, Claude
Published in BMC pediatrics (15.11.2023)
Published in BMC pediatrics (15.11.2023)
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Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study
Cances, Claude, Vlodavets, Dmitry, Comi, Giacomo Pietro, Masson, Riccardo, Mazurkiewicz-BeÅdziÅska, Maria, Saito, Kayoko, Zanoteli, Edmar, Dodman, Angela, El-Khairi, Muna, Gorni, Ksenija, Gravestock, Isaac, Hoffart, Janine, Scalco, Renata S, Darras, Basil T, Alberti, Katia, Baranello, Giovanni, Barisic, Nina, Brolatti, Noemi, Bruno, Claudio, Deconinck, Nicolas, Vos, Elke, De Waele, Liesbeth, Dosi, Claudia, Engelbrekt, Amanda, Goemans, Nathalie, Govoni, Alessandra, Haginoya, Kazuhiro, Kotulska-Jozwiak, Katarzyna, Goff, Laure Le, Levine, Alexis, Manel, Saidi, Mastella, Chiara, Mauri, Eleonora, Meneri, Megi, Moroni, Isabella, Pierzchlewicz, Katarzyna, Portefaix, Aurelie, Prufer, Alexandra, Rauso, Myriam, Schembri, Veronica, Sicolo, Mariangela, Tahon, Valentine, Tomas, Josipa, Vincent-Genod, Dominique, Vuillerot, Carole, Yotsumata, Kazuyuki
Published in Orphanet journal of rare diseases (29.07.2022)
Published in Orphanet journal of rare diseases (29.07.2022)
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Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen
Le Goff, Laure, Seferian, Andreea, Phelep, Aurelie, Rippert, Pascal, Mathieu, Marie-Laure, Cances, Claude, de Lattre, Capucine, Durigneux, Julien, Gousse, Gaelle, Vincent-Genod, Dominique, Ribault, Shams, Gomez Garcia de la Banda, Marta, Quijano-Roy, Susana, Sarret, Catherine, Servais, Laurent, Vuillerot, Carole
Published in Neurological sciences (01.01.2023)
Published in Neurological sciences (01.01.2023)
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Slow Titration of Cannabidiol Add-On in Drug-Resistant Epilepsies Can Improve Safety With Maintained Efficacy in an Open-Label Study
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
Published in Frontiers in neurology (12.08.2020)
Published in Frontiers in neurology (12.08.2020)
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Noonan syndrome, PTPN11 mutations, and brain tumors. A clinical report and review of the literature
Siegfried, Aurore, Cances, Claude, Denuelle, Marie, Loukh, Najat, Tauber, Maïté, Cavé, Hélène, Delisle, Marie‐Bernadette
Published in American journal of medical genetics. Part A (01.04.2017)
Published in American journal of medical genetics. Part A (01.04.2017)
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ADHD in childhood epilepsy: Clinical determinants of severity and of the response to methylphenidate
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, Montavont, Alexandra, Ostrowski‐Coste, Karine, Milh, Mathieu, Chiron, Catherine, Chemaly, Nicole, Bellavoine, Vanina, Barthez, Marie‐Anne
Published in Epilepsia (Copenhagen) (01.07.2016)
Published in Epilepsia (Copenhagen) (01.07.2016)
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Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases
Cabasson, Sébastien, Van-Gils, Julien, Villéga, Frédéric, Abi-Warde, Marie-Thérèse, Barcia, Giulia, Lazaro, Leila, Cancés, Claude, Chelly, Jamel, Karsenty, Caroline, Rivera, Serge, de Saint-Martin, Anne, Trimouille, Aurélien, Villard, Laurent, Pédespan, Jean-Michel
Published in European journal of paediatric neurology (01.09.2020)
Published in European journal of paediatric neurology (01.09.2020)
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The FLNC Ala1186Val Variant Linked to Cytoplasmic Body Myopathy and Cardiomyopathy Causes Protein Instability
Onnée, Marion, Bénézit, Audrey, Bastu, Sultan, Nadaj-Pakleza, Aleksandra, Lannes, Béatrice, Ader, Flavie, Thèze, Corinne, Cintas, Pascal, Cances, Claude, Carlier, Robert-Yves, Metay, Corinne, Cossée, Mireille, Malfatti, Edoardo
Published in Biomedicines (30.01.2024)
Published in Biomedicines (30.01.2024)
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