Early detection of median nerve compression by Electroneurography can improve outcome in children with Mucopolysaccharidoses

por Maincent, Kim, Héron, Bénédicte, Billette de Villemeur, Thierry, Mayer, Michèle
Publicado 2018

Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study

por Guffon, Nathalie, Heron, Bénédicte, Chabrol, Brigitte, Feillet, François, Montauban, Vincent, Valayannopoulos, Vassili
Publicado 2015

Unveiling metabolic remodeling in mucopolysaccharidosis type III through integrative metabolomics and pathway analysis

por Tebani, Abdellah, Abily-Donval, Lenaig, Schmitz-Afonso, Isabelle, Héron, Bénédicte, Piraud, Monique, Ausseil, Jérôme, Zerimech, Farid, Gonzalez, Bruno, Marret, Stéphane, Afonso, Carlos, Bekri, Soumeya
Publicado 2018

Understanding disease symptoms and impacts and producing qualitatively-derived severity stages for MPS IIIA: a mixed methods approach

por Lanar, Sally, Parker, Samantha, O’Neill, Cara, Marrel, Alexia, Arnould, Benoit, Héron, Bénédicte, Muschol, Nicole, Wijburg, Frits A., Chakrapani, Anupam, Olivier, Sophie, Aiach, Karen
Publicado 2022

Long‐term survival outcomes of patients with Niemann‐Pick disease type C receiving miglustat treatment: A large retrospective observational study

por Patterson, Marc C., Garver, William S., Giugliani, Robert, Imrie, Jackie, Jahnova, Helena, Meaney, F John, Nadjar, Yann, Vanier, Marie T., Moneuse, Patrick, Morand, Olivier, Rosenberg, Daniel, Schwierin, Barbara, Héron, Benedicte
Publicado 2020

Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study

por 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
Publicado 2023

A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)

por Pineda, Mercedes, Mengel, Eugen, Jahnová, Helena, Héron, Bénédicte, Imrie, Jackie, Lourenço, Charles M., van der Linden, Vanessa, Karimzadeh, Parvaneh, Valayannopoulos, Vassili, Jesina, Pavel, Torres, Juan V., Kolb, Stefan A.
Publicado 2016

Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel

por Sudrié-Arnaud, Bénédicte, Snanoudj, Sarah, Dabaj, Ivana, Dranguet, Hélène, Abily-Donval, Lenaig, Lebas, Axel, Vezain, Myriam, Héron, Bénédicte, Marie, Isabelle, Duval-Arnould, Marc, Marret, Stéphane, Tebani, Abdellah, Bekri, Soumeya
Publicado 2021

Transition from child to adult health care for patients with lysosomal storage diseases in France: current status and priorities—the TENALYS study, a patient perspective survey

por Genevaz, Delphine, Arnoux, Armelle, Marcel, Catherine, Brassier, Anaïs, Pichard, Samia, Feillet, François, Labarthe, François, Chabrol, Brigitte, Berger, Marc, Lapointe, Anne-Sophie, Frigout, Yvann, Héron, Bénédicte, Chatellier, Gilles, Belmatoug, Nadia
Publicado 2022

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C

por Héron, Bénédicte, Valayannopoulos, Vassili, Baruteau, Julien, Chabrol, Brigitte, Ogier, Hélène, Latour, Philippe, Dobbelaere, Dries, Eyer, Didier, Labarthe, François, Maurey, Hélène, Cuisset, Jean-Marie, de Villemeur, Thierry Billette, Sedel, Frédéric, Vanier, Marie T
Publicado 2012

Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency

por Mochel, Fanny, Hainque, Elodie, Gras, Domitille, Adanyeguh, Isaac M, Caillet, Samantha, Héron, Bénédicte, Roubertie, Agathe, Kaphan, Elsa, Valabregue, Romain, Rinaldi, Daisy, Vuillaumier, Sandrine, Schiffmann, Raphael, Ottolenghi, Chris, Hogrel, Jean-Yves, Servais, Laurent, Roze, Emmanuel
Publicado 2016

FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation

por Montealegre, Sebastian, Lebigot, Elise, Debruge, Hugo, Romero, Norma, Héron, Bénédicte, Gaignard, Pauline, Legendre, Antoine, Imbard, Apolline, Gobin, Stéphanie, Lacène, Emmanuelle, Nusbaum, Patrick, Hubas, Arnaud, Desguerre, Isabelle, Servais, Aude, Laforêt, Pascal, van Endert, Peter, Authier, François Jérome, Gitiaux, Cyril, de Lonlay, Pascale
Publicado 2022

Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect

por Nadjar, Yann, Hütter-Moncada, Ana Lucia, Latour, Philippe, Ayrignac, Xavier, Kaphan, Elsa, Tranchant, Christine, Cintas, Pascal, Degardin, Adrian, Goizet, Cyril, Laurencin, Chloe, Martzolff, Lionel, Tilikete, Caroline, Anheim, Mathieu, Audoin, Bertrand, Deramecourt, Vincent, De Gaillarbois, Thierry Dubard, Roze, Emmanuel, Lamari, Foudil, Vanier, Marie T., Héron, Bénédicte
Publicado 2018

Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-bl...

por Borgwardt, Line, Guffon, Nathalie, Amraoui, Yasmina, Dali, Christine I., De Meirleir, Linda, Gil-Campos, Mercedes, Heron, Bénédicte, Geraci, Silvia, Ardigò, Diego, Cattaneo, Federica, Fogh, Jens, Van den Hout, J. M. Hannerieke, Beck, Michael, Jones, Simon A., Tylki-Szymanska, Anna, Haugsted, Ulla, Lund, Allan M.
Publicado 2018

Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity

por Planas-Serra, Laura, Launay, Nathalie, Goicoechea, Leire, Heron, Bénédicte, Jou, Cristina, Juliá-Palacios, Natalia, Ruiz, Montserrat, Fourcade, Stéphane, Casasnovas, Carlos, De La Torre, Carolina, Gelot, Antoinette, Marsal, Maria, Loza-Alvarez, Pablo, García-Cazorla, Àngels, Fatemi, Ali, Ferrer, Isidre, Portero-Otin, Manel, Area-Gómez, Estela, Pujol, Aurora
Publicado 2023

Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study

por Mengel, Eugen, Bembi, Bruno, del Toro, Mireia, Deodato, Federica, Gautschi, Matthias, Grunewald, Stephanie, Grønborg, Sabine, Héron, Bénédicte, Maier, Esther M., Roubertie, Agathe, Santra, Saikat, Tylki-Szymanska, Anna, Day, Simon, Symonds, Tara, Hudgens, Stacie, Patterson, Marc C., Guldberg, Christina, Ingemann, Linda, Petersen, Nikolaj H. T., Kirkegaard, Thomas, í Dali, Christine
Publicado 2020

Correction to: Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study

por Mengel, Eugen, Bembi, Bruno, del Toro, Mireia, Deodato, Federica, Gautschi, Matthias, Grunewald, Stephanie, Grønborg, Sabine, Héron, Bénédicte, Maier, Esther M., Roubertie, Agathe, Santra, Saikat, Tylki-Szymanska, Anna, Day, Simon, Symonds, Tara, Hudgens, Stacie, Patterson, Marc C., Guldberg, Christina, Ingemann, Linda, Petersen, Nikolaj H. T., Kirkegaard, Thomas, Dali, Christine í
Publicado 2021

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

por Monin, Marie-Lorraine, Mignot, Cyril, De Lonlay, Pascale, Héron, Bénédicte, Masurel, Alice, Mathieu-Dramard, Michèle, Lenaerts, Catherine, Thauvin, Christel, Gérard, Marion, Roze, Emmanuel, Jacquette, Aurélia, Charles, Perrine, de Baracé, Claire, Drouin-Garraud, Valérie, Van Kien, Philippe Khau, Cormier-Daire, Valérie, Mayer, Michèle, Ogier, Hélène, Brice, Alexis, Seta, Nathalie, Héron, Delphine
Publicado 2014

Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations

por Cameron, Jillian M., Maljevic, Snezana, Nair, Umesh, Aung, Ye Htet, Cogné, Benjamin, Bézieau, Stéphane, Blair, Edward, Isidor, Bertrand, Zweier, Christiane, Reis, André, Koenig, Mary Kay, Maarup, Timothy, Sarco, Dean, Afenjar, Alexandra, Huq, A. H. M. Mahbubul, Kukolich, Mary, Billette de Villemeur, Thierry, Nava, Caroline, Héron, Bénédicte, Petrou, Steven, Berkovic, Samuel F.
Publicado 2019

Consensus clinical management guidelines for Niemann-Pick disease type C

por Geberhiwot, Tarekegn, Moro, Alessandro, Dardis, Andrea, Ramaswami, Uma, Sirrs, Sandra, Marfa, Mercedes Pineda, Vanier, Marie T., Walterfang, Mark, Bolton, Shaun, Dawson, Charlotte, Héron, Bénédicte, Stampfer, Miriam, Imrie, Jackie, Hendriksz, Christian, Gissen, Paul, Crushell, Ellen, Coll, Maria J., Nadjar, Yann, Klünemann, Hans, Mengel, Eugen, Hrebicek, Martin, Jones, Simon A., Ory, Daniel, Bembi, Bruno, Patterson, Marc
Publicado 2018