Хайлтын үр дүнгүүд - Luton, Marie‐Pierre

Multiparametric characterization of white matter alterations in early stage Huntington disease -н Adanyeguh, Isaac M., Branzoli, Francesca, Delorme, Cécile, Méneret, Aurélie, Monin, Marie-Lorraine, Luton, Marie-Pierre, Durr, Alexandra, Sabidussi, Emanoel, Mochel, Fanny

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Unusual Phenotypic Features in a Patient with a Novel Splice Mutation in the GHRHR Gene -н Hilal, Latifa, Hajaji, Yassir, Vie-Luton, Marie-Pierre, Ajaltouni, Zeina, Benazzouz, Bouchra, Chana, Maha, Chraïbi, Adelmajid, Kadiri, Abdelkrim, Amselem, Serge, Sobrier, Marie-Laure

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Long-term follow-up in an open-label trial of triheptanoin in GLUT1 deficiency syndrome: a sustained dramatic effect -н Hainque, Elodie, Gras, Domitille, Meneret, Aurélie, Atencio, Mariana, Luton, Marie-Pierre, Barbier, Magali, Doulazmi, Mohamed, Habarou, Florence, Ottolenghi, Chris, Roze, Emmanuel, Mochel, Fanny

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Multiparametric in vivo analyses of the brain and spine identify structural and metabolic biomarkers in men with adrenomyeloneuropathy -н Adanyeguh, Isaac M., Lou, Xiaofang, McGovern, Eavan, Luton, Marie-Pierre, Barbier, Magali, Yazbeck, Elise, Valabregue, Romain, Deelchand, Dinesh, Henry, Pierre-Gilles, Mochel, Fanny

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Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature -н Pantel, Jacques, Legendre, Marie, Cabrol, Sylvie, Hilal, Latifa, Hajaji, Yassir, Morisset, Séverine, Nivot, Sylvie, Vie-Luton, Marie-Pierre, Grouselle, Dominique, de Kerdanet, Marc, Kadiri, Abdelkrim, Epelbaum, Jacques, Le Bouc, Yves, Amselem, Serge

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A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome -н Gras, Domitille, Cousin, Christelle, Kappeler, Caroline, Fung, Cheuk‐Wing, Auvin, Stéphane, Essid, Nouha, Chung, Brian Hy, Da Costa, Lydie, Hainque, Elodie, Luton, Marie‐Pierre, Petit, Vincent, Vuillaumier‐Barrot, Sandrine, Boespflug‐Tanguy, Odile, Roze, Emmanuel, Mochel, Fanny

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No effect of triheptanoin on exercise performance in McArdle disease -н Madsen, Karen L., Laforêt, Pascal, Buch, Astrid E., Stemmerik, Mads G., Ottolenghi, Chris, Hatem, Stéphane N., Raaschou‐Pedersen, Daniel T., Poulsen, Nanna S., Atencio, Maria, Luton, Marie‐Pierre, Ceccaldi, Alexandre, Haller, Ronald G., Quinlivan, Ros, Mochel, Fanny, Vissing, John

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Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes -н Blum, Werner F., Klammt, Jürgen, Amselem, Serge, Pfäffle, Heike M., Legendre, Marie, Sobrier, Marie-Laure, Luton, Marie-Pierre, Child, Christopher J., Jones, Christine, Zimmermann, Alan G., Quigley, Charmian A., Cutler, Gordon B., Deal, Cheri L., Lebl, Jan, Rosenfeld, Ron G., Parks, John S., Pfäffle, Roland W.

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