A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments von 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

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Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature von Bar, Claire, Barcia, Giulia, Jennesson, Mélanie, Le Guyader, Gwenaël, Schneider, Amy, Mignot, Cyril, Lesca, Gaetan, Breuillard, Delphine, Montomoli, Martino, Keren, Boris, Doummar, Diane, Billette de Villemeur, Thierry, Afenjar, Alexandra, Marey, Isabelle, Gerard, Marion, Isnard, Hervé, Poisson, Alice, Dupont, Sophie, Berquin, Patrick, Meyer, Pierre, Genevieve, David, De Saint Martin, Anne, El Chehadeh, Salima, Chelly, Jamel, Guët, Agnès, Scalais, Emmanuel, Dorison, Nathalie, Myers, Candace T., Mefford, Heather C., Howell, Katherine B., Marini, Carla, Freeman, Jeremy L., Nica, Anca, Terrone, Gaetano, Sekhara, Tayeb, Lebre, Anne‐Sophie, Odent, Sylvie, Sadleir, Lynette G., Munnich, Arnold, Guerrini, Renzo, Scheffer, Ingrid E., Kabashi, Edor, Nabbout, Rima

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Quality of life in patients with locked-in syndrome: Evolution over a 6-year period von Rousseau, Marie-Christine, Baumstarck, Karine, Alessandrini, Marine, Blandin, Véronique, Billette de Villemeur, Thierry, Auquier, Pascal

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Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic ence... von Valence, Stéphanie, Cochet, Emmanuelle, Rougeot, Christelle, Garel, Catherine, Chantot-Bastaraud, Sandra, Lainey, Elodie, Afenjar, Alexandra, Barthez, Marie-Anne, Bednarek, Nathalie, Doummar, Diane, Faivre, Laurence, Goizet, Cyril, Haye, Damien, Heron, Bénédicte, Kemlin, Isabelle, Lacombe, Didier, Milh, Mathieu, Moutard, Marie-Laure, Riant, Florence, Robin, Stéphanie, Roubertie, Agathe, Sarda, Pierre, Toutain, Annick, Villard, Laurent, Ville, Dorothée, Billette de Villemeur, Thierry, Rodriguez, Diana, Burglen, Lydie

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Herpes Simplex Virus Encephalitis in Human UNC-93B Deficiency von Casrouge, Armanda, Zhang, Shen-Ying, Eidenschenk, Céline, Jouanguy, Emmanuelle, Puel, Anne, Yang, Kun, Alcais, Alexandre, Picard, Capucine, Mahfoufi, Nora, Nicolas, Nathalie, Lorenzo, Lazaro, Plancoulaine, Sabine, Sénéchal, Brigitte, Geissmann, Frédéric, Tabeta, Koichi, Hoebe, Kasper, Du, Xin, Miller, Richard L, Héron, Bénédicte, Mignot, Cyril, Villemeur, Thierry Billette de, Lebon, Pierre, Dulac, Olivier, Rozenberg, Flore, Beutler, Bruce, Tardieu, Marc, Abel, Laurent, Casanova, Jean-Laurent

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Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow‐up von Jaillard, Alienor, Valence, Stéphanie, Vande Perre, Saskia, Dhombres, Ferdinand, Héron, Delphine, Billette de Villemeur, Thierry, Keren, Boris, Afenjar, Alexandra, Qebibo, Leila, Harion, Madeleine, Quenum‐Miraillet, Geneviève, Rodriguez, Diana, Jouannic, Jean‐Marie, Burglen, Lydie, Garel, Catherine

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Evaluation of quality of life in individuals with severe chronic motor disability: A major challenge von Rousseau, Marie-Christine, Baumstarck, Karine, Villemeur, Thierry Billette de, Auquier, Pascal

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Adequacy of care management of patients with polyhandicap in the French health system: A study of 782 patients von Rousseau, Marie-Christine, Billette de Villemeur, Thierry, Khaldi-Cherif, Sherezad, Brisse, Catherine, Felce, Agnès, Baumstarck, Karine, Auquier, Pascal

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Health care management adequacy among French persons with severe profound intellectual and multiple disabilities: a longitudinal study von Baumstarck, Karine, Hamouda, Ilyes, Aim, Marie-Anastasie, Anzola, Any Beltran, Khaldi-Cherif, Sherezad, Felce, Agnès, Maincent, Kim, Lind, Katia, Auquier, Pascal, Billette de Villemeur, Thierry, Rousseau, Marie-Christine

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Early detection of median nerve compression by Electroneurography can improve outcome in children with Mucopolysaccharidoses von Maincent, Kim, Héron, Bénédicte, Billette de Villemeur, Thierry, Mayer, Michèle

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Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study von Keil, Stefanie, Anjema, Karen, van Spronsen, Francjan J, Lambruschini, Nilo, Burlina, Alberto, Bélanger-Quintana, Amaya, Couce, Maria L, Feillet, Francois, Cerone, Roberto, Lotz-Havla, Amelie S, Muntau, Ania C, Bosch, Annet M, Meli, Concetta A P, Billette de Villemeur, Thierry, Kern, Ilse, Riva, Enrica, Giovannini, Marcello, Damaj, Lena, Leuzzi, Vincenzo, Blau, Nenad

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Simulations of Valproate Doses Based on an External Evaluation of Pediatric Population Pharmacokinetic Models von Tauzin, Manon, Tréluyer, Jean‐Marc, Nabbout, Rima, Billette de Villemeur, Thierry, Desguerre, Isabelle, Aboura, Radia, Gana, Ines, Zheng, Yi, Benaboud, Sihem, Bouazza, Naim, Chenevier‐Gobeaux, Camille, Freihuber, Cécile, Hirt, Déborah

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

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Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory von Passemard, Sandrine, Verloes, Alain, Billette de Villemeur, Thierry, Boespflug-Tanguy, Odile, Hernandez, Karen, Laurent, Marion, Isidor, Bertrand, Alberti, Corinne, Pouvreau, Nathalie, Drunat, Séverine, Gérard, Bénédicte, El Ghouzzi, Vincent, Gallego, Jorge, Elmaleh-Bergès, Monique, Huttner, Wieland B., Eliez, Stephan, Gressens, Pierre, Schaer, Marie

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Impact of caring for patients with polyhandicap on institutional health care workers' quality of life: a cross-sectional and longitudinal evaluation von Rousseau, Marie-Christine, Beltran, Any, Hamouda, Ilyes, Aim, Marie-Anastasie, Felce, Agnès, Lind, Katia, Khaldi, Nafissa, El Ouazzani, Houria, Auquier, Pascal, de Villemeur, Thierry Billette, Baumstarck, Karine

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Impact of severe polyhandicap on parents' quality of life: A large French cross-sectional study von Rousseau, Marie-Christine, Baumstarck, Karine, Khaldi-Cherif, Sherezad, Brisse, Catherine, Felce, Agnès, Moheng, Benjamin, Loundou, Anderson, Billette de Villemeur, Thierry, Auquier, Pascal

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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 von 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, de Villemeur, Thierry Billette, Rodriguez, Diana

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Abnormal properties of red blood cells suggest a role in the pathophysiology of Gaucher disease von Franco, Melanie, Collec, Emmanuel, Connes, Philippe, van den Akker, Emile, Billette de Villemeur, Thierry, Belmatoug, Nadia, von Lindern, Marieke, Ameziane, Nejma, Hermine, Olivier, Colin, Yves, Le Van Kim, Caroline, Mignot, Cyril

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Evaluation of quality of life in complete locked-in syndrome patients von Rousseau, Marie-Christine, Pietra, Stephane, Nadji, Mohammed, Billette de Villemeur, Thierry

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Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations von 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.

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