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

Quality of life in patients with locked-in syndrome: Evolution over a 6-year period

por Rousseau, Marie-Christine, Baumstarck, Karine, Alessandrini, Marine, Blandin, Véronique, Billette de Villemeur, Thierry, Auquier, Pascal
Publicado 2015

Adequacy of care management of patients with polyhandicap in the French health system: A study of 782 patients

por Rousseau, Marie-Christine, Billette de Villemeur, Thierry, Khaldi-Cherif, Sherezad, Brisse, Catherine, Felce, Agnès, Baumstarck, Karine, Auquier, Pascal
Publicado 2018

Impact of severe polyhandicap on parents’ quality of life: A large French cross-sectional study

por Rousseau, Marie-Christine, Baumstarck, Karine, Khaldi-Cherif, Sherezad, Brisse, Catherine, Felce, Agnès, Moheng, Benjamin, Loundou, Anderson, Billette de Villemeur, Thierry, Auquier, Pascal
Publicado 2019

Impact of severe polyhandicap cared for at home on French informal caregivers’ burden: a cross-sectional study

por Rousseau, Marie-Christine, Baumstarck, Karine, Valkov, Maria, Felce, Agnés, Brisse, Catherine, Khaldi-Cherif, Sherezad, Loundou, Anderson, Auquier, Pascal, Billette de Villemeur, Thierry
Publicado 2020

Single-Step Rapid Diagnosis of Dopamine and Serotonin Metabolism Disorders

por Lo, Aurélien, Guibal, Pierre, Doummar, Diane, Rodriguez, Diana, Hautem, Jean-Yves, Couderc, Rémy, Billette De Villemeur, Thierry, Roze, Emmanuel, Chaminade, Pierre, Moussa, Fathi
Publicado 2017

A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments

por Stirnemann, Jérôme, Belmatoug, Nadia, Camou, Fabrice, Serratrice, Christine, Froissart, Roseline, Caillaud, Catherine, Levade, Thierry, Astudillo, Leonardo, Serratrice, Jacques, Brassier, Anaïs, Rose, Christian, Billette de Villemeur, Thierry, Berger, Marc G.
Publicado 2017

Effects of sphingolipids overload on red blood cell properties in Gaucher disease

por Dupuis, Lucie, Chipeaux, Caroline, Bourdelier, Emmanuelle, Martino, Suella, Reihani, Nelly, Belmatoug, Nadia, Billette de Villemeur, Thierry, Hivert, Bénédicte, Moussa, Fathi, Le Van Kim, Caroline, de Person, Marine, Franco, Mélanie
Publicado 2020

Oculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their Correlation with Neurological Findings

por Bremova-Ertl, Tatiana, Schiffmann, Raphael, Patterson, Marc C., Belmatoug, Nadia, Billette de Villemeur, Thierry, Bardins, Stanislavs, Frenzel, Claudia, Malinová, Věra, Naumann, Silvia, Arndt, Juliane, Mengel, Eugen, Reinke, Jörg, Strobl, Ralf, Strupp, Michael
Publicado 2018

Congenital immobility and stiffness related to biallelic ATAD1 variants

por Bunod, Roxane, Doummar, Diane, Whalen, Sandra, Keren, Boris, Chantot-Bastaraud, Sandra, Maincent, Kim, Villy, Marie-Charlotte, Mayer, Michèle, Rodriguez, Diana, Burglen, Lydie, Léger, Pierre-Louis, Kieffer, François, Martin, Isabelle, Héron, Delphine, Buratti, Julien, Isapof, Arnaud, Afenjar, Alexandra, Billette de Villemeur, Thierry, Mignot, Cyril
Publicado 2020

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

por Burglen, Lydie, Chantot-Bastaraud, Sandra, Garel, Catherine, Milh, Mathieu, Touraine, Renaud, Zanni, Ginevra, Petit, Florence, Afenjar, Alexandra, Goizet, Cyril, Barresi, Sabina, Coussement, Aurélie, Ioos, Christine, Lazaro, Leila, Joriot, Sylvie, Desguerre, Isabelle, Lacombe, Didier, des Portes, Vincent, Bertini, Enrico, Siffroi, Jean-Pierre, Billette de Villemeur, Thierry, Rodriguez, Diana
Publicado 2012

Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability

por Barcia, Giulia, Chemaly, Nicole, Kuchenbuch, Mathieu, Eisermann, Monika, Gobin-Limballe, Stéphanie, Ciorna, Viorica, Macaya, Alfons, Lambert, Laetitia, Dubois, Fanny, Doummar, Diane, Billette de Villemeur, Thierry, Villeneuve, Nathalie, Barthez, Marie-Anne, Nava, Caroline, Boddaert, Nathalie, Kaminska, Anna, Bahi-Buisson, Nadia, Milh, Mathieu, Auvin, Stéphane, Bonnefont, Jean-Paul, Nabbout, Rima
Publicado 2019

Immunoglobulin Abnormalities in Gaucher Disease: an Analysis of 278 Patients Included in the French Gaucher Disease Registry

por Nguyen, Yann, Stirnemann, Jérôme, Lautredoux, Florent, Cador, Bérengère, Bengherbia, Monia, Yousfi, Karima, Hamroun, Dalil, Astudillo, Leonardo, Billette de Villemeur, Thierry, Brassier, Anaïs, Camou, Fabrice, Dalbies, Florence, Dobbelaere, Dries, Gaches, Francis, Leguy-Seguin, Vanessa, Masseau, Agathe, Pers, Yves-Marie, Pichard, Samia, Serratrice, Christine, Berger, Marc G., Fantin, Bruno, Belmatoug, Nadia
Publicado 2020

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

A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies

por Gonçalves, Sara, Patat, Julie, Guida, Maria Clara, Lachaussée, Noelle, Arrondel, Christelle, Helmstädter, Martin, Boyer, Olivia, Gribouval, Olivier, Gubler, Marie-Claire, Mollet, Geraldine, Rio, Marlène, Charbit, Marina, Bole-Feysot, Christine, Nitschke, Patrick, Huber, Tobias B., Wheeler, Patricia G., Haynes, Devon, Juusola, Jane, Billette de Villemeur, Thierry, Nava, Caroline, Afenjar, Alexandra, Keren, Boris, Bodmer, Rolf, Antignac, Corinne, Simons, Matias
Publicado 2018

A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher Disease

por Serratrice, Christine, Stirnemann, Jérôme, Berrahal, Amina, Belmatoug, Nadia, Camou, Fabrice, Caillaud, Catherine, Billette de Villemeur, Thierry, Dalbies, Florence, Cador, Bérengère, Froissart, Roseline, Masseau, Agathe, Brassier, Anaïs, Hivert, Bénédicte, Swiader, Laure, Bertchansky, Ivan, de Moreuil, Claire, Chabrol, Brigitte, Durieu, Isabelle, Leguy Seguin, Vanessa, Astudillo, Leonardo, Humbert, Sébastien, Pichard, Samia, Marcel, Catherine, Hau Rainsard, Isabelle, Bengherbia, Monia, Yousfi, Karima, Berger, Marc G.
Publicado 2020

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2

por Milh, Mathieu, Boutry-Kryza, Nadia, Sutera-Sardo, Julie, Mignot, Cyril, Auvin, Stéphane, Lacoste, Caroline, Villeneuve, Nathalie, Roubertie, Agathe, Heron, Bénédicte, Carneiro, Maryline, Kaminska, Anna, Altuzarra, Cécilia, Blanchard, Gaëlle, Ville, Dorothée, Barthez, Marie Anne, Heron, Delphine, Gras, Domitille, Afenjar, Alexandra, Dorison, Nathalie, Doummar, Dianne, Billette de Villemeur, Thierry, An, Isabelle, Jacquette, Aurélia, Charles, Perrine, Perrier, Julie, Isidor, Bertrand, Vercueil, Laurent, Chabrol, Brigitte, Badens, Catherine, Lesca, Gaétan, Villard, Laurent
Publicado 2013

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

por Depienne, Christel, Nava, Caroline, Keren, Boris, Heide, Solveig, Rastetter, Agnès, Passemard, Sandrine, Chantot-Bastaraud, Sandra, Moutard, Marie-Laure, Agrawal, Pankaj B., VanNoy, Grace, Stoler, Joan M., Amor, David J., Billette de Villemeur, Thierry, Doummar, Diane, Alby, Caroline, Cormier-Daire, Valérie, Garel, Catherine, Marzin, Pauline, Scheidecker, Sophie, de Saint-Martin, Anne, Hirsch, Edouard, Korff, Christian, Bottani, Armand, Faivre, Laurence, Verloes, Alain, Orzechowski, Christine, Burglen, Lydie, Leheup, Bruno, Roume, Joelle, Andrieux, Joris, Sheth, Frenny, Datar, Chaitanya, Parker, Michael J., Pasquier, Laurent, Odent, Sylvie, Naudion, Sophie, Delrue, Marie-Ange, Le Caignec, Cédric, Vincent, Marie, Isidor, Bertrand, Renaldo, Florence, Stewart, Fiona, Toutain, Annick, Koehler, Udo, Häckl, Birgit, von Stülpnagel, Celina, Kluger, Gerhard, Møller, Rikke S., Pal, Deb, Jonson, Tord, Soller, Maria, Verbeek, Nienke E., van Haelst, Mieke M., de Kovel, Carolien, Koeleman, Bobby, Monroe, Glen, van Haaften, Gijs, Attié-Bitach, Tania, Boutaud, Lucile, Héron, Delphine, Mignot, Cyril
Publicado 2017