Multiparametric characterization of white matter alterations in early stage Huntington disease

por Adanyeguh, Isaac M., Branzoli, Francesca, Delorme, Cécile, Méneret, Aurélie, Monin, Marie-Lorraine, Luton, Marie-Pierre, Durr, Alexandra, Sabidussi, Emanoel, Mochel, Fanny
Publicado 2021

Long-term follow-up in an open-label trial of triheptanoin in GLUT1 deficiency syndrome: a sustained dramatic effect

por Hainque, Elodie, Gras, Domitille, Meneret, Aurélie, Atencio, Mariana, Luton, Marie-Pierre, Barbier, Magali, Doulazmi, Mohamed, Habarou, Florence, Ottolenghi, Chris, Roze, Emmanuel, Mochel, Fanny
Publicado 2019

Multiparametric in vivo analyses of the brain and spine identify structural and metabolic biomarkers in men with adrenomyeloneuropathy

por Adanyeguh, Isaac M., Lou, Xiaofang, McGovern, Eavan, Luton, Marie-Pierre, Barbier, Magali, Yazbeck, Elise, Valabregue, Romain, Deelchand, Dinesh, Henry, Pierre-Gilles, Mochel, Fanny
Publicado 2021

A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome

por 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
Publicado 2017

No effect of triheptanoin on exercise performance in McArdle disease

por 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
Publicado 2019

Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes

por 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.
Publicado 2018

Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome

por Mochel, Fanny, Gras, Domitille, Luton, Marie-Pierre, Nizou, Manon, Giovannini, Donatella, Delattre, Caroline, Aubart, Mélodie, Barth, Magalie, De Saint-Martin, Anne, Doummar, Diane, Essid, Nouha, Garros, Alexa, Le Camus, Caroline Hachon, Hoebeke, Celia, The Tich, Sylvie Nguyen, Perivier, Maximilien, Rivera, Serge, Rolland, Anne, Roubertie, Agathe, Sarret, Catherine, Sevin, Caroline, Ville, Dorothee, Sitbon, Marc, Costa, Jean-Marc, Pons, Roser, Garcia-Cazorla, Angels, Vuillaumier, Sandrine, Petit, Vincent, Boespflug-Tanguy, Odile, De Vivo, Darryl C.
Publicado 2023