Monoamine neurotransmitters and movement disorders in children and adults
Doummar, D., Moussa, F., Nougues, M.-C., Ravelli, C., Louha, M., Whalen, S., Burglen, L., Rodriguez, D., Billette de Villemeur, T.
Published in Revue neurologique (01.11.2018)
Published in Revue neurologique (01.11.2018)
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Paroxysmal strabismus and stridor acquired in childhood: Do not overlook calcemia
Escudier, A., Giabicani, E., Neven, B., Gouache, E., Blanchard, M., Isapof, A., Nougues, M.-C., Freihuber, C.
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.02.2020)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.02.2020)
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Clinical correlations and long‐term follow‐up in 100 patients with sarcoglycanopathies
Guimarães‐Costa, R., Fernández‐Eulate, G., Wahbi, K., Leturcq, F., Malfatti, E., Behin, A., Leonard‐Louis, S., Desguerre, I., Barnerias, C., Nougues, M. C., Isapof, A., Estournet‐Mathiaud, B., Quijano‐Roy, S., Fayssoil, A., Orlikowski, D., Fauroux, B., Richard, I., Semplicini, C., Romero, N. B., Querin, G., Eymard, B., Laforêt, P., Stojkovic, T.
Published in European journal of neurology (01.02.2021)
Published in European journal of neurology (01.02.2021)
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Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function
Rice, Gillian I., Park, Sehoon, Gavazzi, Francesco, Adang, Laura A., Ayuk, Loveline A., Van Eyck, Lien, Seabra, Luis, Barrea, Christophe, Battini, Roberta, Belot, Alexandre, Berg, Stefan, Billette de Villemeur, Thierry, Bley, Annette E., Blumkin, Lubov, Boespflug‐Tanguy, Odile, Briggs, Tracy A., Brimble, Elise, Dale, Russell C., Darin, Niklas, Debray, François‐Guillaume, De Giorgis, Valentina, Denecke, Jonas, Doummar, Diane, Drake af Hagelsrum, Gunilla, Eleftheriou, Despina, Estienne, Margherita, Fazzi, Elisa, Feillet, François, Galli, Jessica, Hartog, Nicholas, Harvengt, Julie, Heron, Bénédicte, Heron, Delphine, Kelly, Diedre A., Lev, Dorit, Levrat, Virginie, Livingston, John H., Marti, Itxaso, Mignot, Cyril, Mochel, Fanny, Nougues, Marie‐Christine, Oppermann, Ilena, Pérez‐Dueñas, Belén, Popp, Bernt, Rodero, Mathieu P., Rodriguez, Diana, Saletti, Veronica, Sharpe, Cia, Tonduti, Davide, Vadlamani, Gayatri, Van Haren, Keith, Tomas Vila, Miguel, Vogt, Julie, Wassmer, Evangeline, Wiedemann, Arnaud, Wilson, Callum J., Zerem, Ayelet, Zweier, Christiane, Zuberi, Sameer M., Orcesi, Simona, Vanderver, Adeline L., Hur, Sun, Crow, Yanick J.
Published in Human mutation (01.04.2020)
Published in Human mutation (01.04.2020)
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Polyhandicap and aging
Rousseau, Marie-Christine, de Villemeur, Thierry Billette, Khaldi-Cherif, Sherezad, Brisse, Catherine, Felce, Agnès, Loundou, Anderson, Baumstarck, Karine, Auquier, Pascal
Published in Disability and health journal (01.10.2019)
Published in Disability and health journal (01.10.2019)
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P299 – 1889 Congenital myasthenic syndromes: classification and therapy
Echenne, B, Sternberg, D, Richard, P, Nicole, S, Meyer, P, Nouguès, MC, Walther-Louvier, U, Farmer, M, Cieuta-Walti, C, Hantaï, D, Eymard, B, Rivier, F
Published in European journal of paediatric neurology (01.09.2013)
Published in European journal of paediatric neurology (01.09.2013)
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