Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity
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
Published in The Journal of clinical investigation (15.05.2023)
Published in The Journal of clinical investigation (15.05.2023)
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Unveiling metabolic remodeling in mucopolysaccharidosis type III through integrative metabolomics and pathway analysis
Tebani, Abdellah, Abily-Donval, Lenaig, Schmitz-Afonso, Isabelle, Héron, Bénédicte, Piraud, Monique, Ausseil, Jérôme, Zerimech, Farid, Gonzalez, Bruno, Marret, Stéphane, Afonso, Carlos, Bekri, Soumeya
Published in Journal of translational medicine (04.09.2018)
Published in Journal of translational medicine (04.09.2018)
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Journal Article
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene
Gras, Domitille, Jonard, Laurence, Roze, Emmanuel, Chantot-Bastaraud, Sandra, Koht, Jeanette, Motte, Jacques, Rodriguez, Diana, Louha, Malek, Caubel, Isabelle, Kemlin, Isabelle, Lion-François, Laurence, Goizet, Cyril, Guillot, Loic, Moutard, Marie-Laure, Epaud, Ralph, Héron, Bénédicte, Charles, Perrine, Tallot, Marilyn, Camuzat, Agnès, Durr, Alexandra, Polak, Michel, Devos, David, Sanlaville, Damien, Vuillaume, Isabelle, Billette de Villemeur, Thierry, Vidailhet, Marie, Doummar, Diane
Published in Journal of neurology, neurosurgery and psychiatry (01.10.2012)
Published in Journal of neurology, neurosurgery and psychiatry (01.10.2012)
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Journal Article
Book Review
Evidence of mosaicism in SPAST variant carriers in four French families
Angelini, Chloé, Goizet, Cyril, Said, Samia Ait, Camu, William, Depienne, Christel, Heron, Bénédicte, Kol, Bophara, Guillaud-Bataille, Marine, Pennamen, Perrine, Rooryck, Caroline, Scherer-Gagou, Clarisse, Tissier, Laurène, Stevanin, Giovanni, Leguern, Eric, Banneau, Guillaume
Published in European journal of human genetics : EJHG (01.07.2021)
Published in European journal of human genetics : EJHG (01.07.2021)
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Journal Article
Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study
Guffon, Nathalie, Heron, Bénédicte, Chabrol, Brigitte, Feillet, François, Montauban, Vincent, Valayannopoulos, Vassili
Published in Orphanet journal of rare diseases (12.04.2015)
Published in Orphanet journal of rare diseases (12.04.2015)
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Journal Article
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy
Syrbe, Steffen, Harms, Frederike L, Parrini, Elena, Montomoli, Martino, Mütze, Ulrike, Helbig, Katherine L, Polster, Tilman, Albrecht, Beate, Bernbeck, Ulrich, van Binsbergen, Ellen, Biskup, Saskia, Burglen, Lydie, Denecke, Jonas, Heron, Bénédicte, Heyne, Henrike O, Hoffmann, Georg F, Hornemann, Frauke, Matsushige, Takeshi, Matsuura, Ryuki, Kato, Mitsuhiro, Korenke, G Christoph, Kuechler, Alma, Lämmer, Constanze, Merkenschlager, Andreas, Mignot, Cyril, Ruf, Susanne, Nakashima, Mitsuko, Saitsu, Hirotomo, Stamberger, Hannah, Pisano, Tiziana, Tohyama, Jun, Weckhuysen, Sarah, Werckx, Wendy, Wickert, Julia, Mari, Francesco, Verbeek, Nienke E, Møller, Rikke S, Koeleman, Bobby, Matsumoto, Naomichi, Dobyns, William B, Battaglia, Domenica, Lemke, Johannes R, Kutsche, Kerstin, Guerrini, Renzo
Published in Brain (London, England : 1878) (01.09.2017)
Published in Brain (London, England : 1878) (01.09.2017)
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Recurrent “outsider” intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb
Mansour-Hendili, Lamisse, Gitiaux, Cyril, Harion, Madeleine, Latouche, Céline, Heron, Bénédicte, Stojkovic, Tanya, Rama, Mélanie, Smol, Thomas, Sophie Jourdain, Anne, Mention, Karine, Nadjar, Yann, Schiff, Manuel, Lemale, Julie, Ghoumid, Jamal, Gottrand, Frédéric, Talbotec, Cécile, Rötig, Agnès, Funalot, Benoît, Desguerre, Isabelle
Published in Frontiers in genetics (29.01.2024)
Published in Frontiers in genetics (29.01.2024)
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Journal Article
From splitting GLUT1 deficiency syndromes to overlapping phenotypes
Hully, Marie, Vuillaumier-Barrot, Sandrine, Le Bizec, Christiane, Boddaert, Nathalie, Kaminska, Anna, Lascelles, Karine, de Lonlay, Pascale, Cances, Claude, des Portes, Vincent, Roubertie, Agathe, Doummar, Diane, LeBihannic, Anne, Degos, Bertrand, de Saint Martin, Anne, Flori, Elisabeth, Pedespan, Jean Michel, Goldenberg, Alice, Vanhulle, Catherine, Bekri, Soumeya, Roubergue, Anne, Heron, Bénédicte, Cournelle, Marie-Anne, Kuster, Alice, Chenouard, Alexis, Loiseau, Marie-Noelle, Valayannopoulos, Vassili, Chemaly, Nicole, Gitiaux, Cyril, Seta, Nathalie, Bahi-Buisson, Nadia
Published in European journal of medical genetics (01.09.2015)
Published in European journal of medical genetics (01.09.2015)
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Journal Article
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies
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
Published in Genetics in medicine (01.03.2019)
Published in Genetics in medicine (01.03.2019)
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Journal Article
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-blind, randomised, placebo-controlled trial
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.
Published in Journal of inherited metabolic disease (01.12.2018)
Published in Journal of inherited metabolic disease (01.12.2018)
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Journal Article
The phenotypic spectrum of X‐linked, infantile onset ALG13‐related developmental and epileptic encephalopathy
Datta, Alexandre N., Bahi‐Buisson, Nadia, Bienvenu, Thierry, Buerki, Sarah E., Gardiner, Fiona, Cross, J. Helen, Heron, Bénédicte, Kaminska, Anna, Korff, Christian M., Lepine, Anne, Lesca, Gaetan, McTague, Amy, Mefford, Heather C., Mignot, Cyrill, Milh, Matthieu, Piton, Amélie, Pressler, Ronit M., Ruf, Susanne, Sadleir, Lynette G., Saint Martin, Anne, Van Gassen, Koen, Verbeek, Nienke E., Ville, Dorothée, Villeneuve, Nathalie, Zacher, Pia, Scheffer, Ingrid E., Lemke, Johannes R.
Published in Epilepsia (Copenhagen) (01.02.2021)
Published in Epilepsia (Copenhagen) (01.02.2021)
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Journal Article
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2
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
Published in Orphanet journal of rare diseases (22.05.2013)
Published in Orphanet journal of rare diseases (22.05.2013)
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Journal Article
Children often present with infantile spasms after herpetic encephalitis
Aznar Laín, Gemma, Dellatolas, Georges, Eisermann, Monika, Boddaert, Nathalie, Chiron, Catherine, Bulteau, Christine, Monteiro, José P., An, Isabelle, Pédespan, Jean‐Michel, Cancès, Claude, Peudenier, Sylvianne, Barthez, Marie‐Anne, Milh, Mathieu, Dorfmuller, Georges, Héron, Bénédicte, Nabbout, Rima, Grevent, David, Dulac, Olivier
Published in Epilepsia (Copenhagen) (01.09.2013)
Published in Epilepsia (Copenhagen) (01.09.2013)
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Journal Article
AICA-Ribosiduria: A Novel, Neurologically Devastating Inborn Error of Purine Biosynthesis Caused by Mutation of ATIC
Marie, Sandrine, Heron, Bénédicte, Bitoun, Pierre, Timmerman, Thérèse, Van den Berghe, Georges, Vincent, Marie-Françoise
Published in American journal of human genetics (01.06.2004)
Published in American journal of human genetics (01.06.2004)
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Journal Article
24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: Follow up using brain spectroscopy
Galanaud, Damien, Tourbah, Ayman, Lehéricy, Stéphane, Leveque, Nathalie, Heron, Bénédicte, Billette de Villemeur, Thierry, Guffon, Nathalie, Feillet, François, Baumann, Nicole, Vanier, Marie T., Sedel, Frédéric
Published in Molecular genetics and metabolism (01.02.2009)
Published in Molecular genetics and metabolism (01.02.2009)
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Journal Article
Herpes Simplex Virus Encephalitis in Human UNC-93B Deficiency
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
Published in Science (American Association for the Advancement of Science) (13.10.2006)
Published in Science (American Association for the Advancement of Science) (13.10.2006)
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Journal Article
Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive
Verloes, Alain, Bremond-Gignac, Dominique, Isidor, Bertrand, David, Albert, Baumann, Clarisse, Leroy, Marie-Anne, Stevens, René, Gillerot, Yves, Héron, Delphine, Héron, Bénédicte, Benzacken, Brigitte, Lacombe, Didier, Brunner, Han, Bitoun, Pierre
Published in American journal of medical genetics. Part A (15.06.2006)
Published in American journal of medical genetics. Part A (15.06.2006)
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Journal Article
TLR3 Deficiency in Patients with Herpes Simplex Encephalitis
Zhang, Shen-Ying, Jouanguy, Emmanuelle, Ugolini, Sophie, Smahi, Asma, Elain, Gaëlle, Romero, Pedro, Segal, David, Sancho-Shimizu, Vanessa, Lorenzo, Lazaro, Puel, Anne, Picard, Capucine, Chapgier, Ariane, Plancoulaine, Sabine, Titeux, Matthias, Cognet, Céline, von Bernuth, Horst, Ku, Cheng-Lung, Casrouge, Armanda, Zhang, Xin-Xin, Barreiro, Luis, Leonard, Joshua, Hamilton, Claire, Lebon, Pierre, Héron, Bénédicte, Vallée, Louis, Quintana-Murci, Lluis, Hovnanian, Alain, Rozenberg, Flore, Vivier, Eric, Geissmann, Frédéric, Tardieu, Marc, Abel, Laurent, Casanova, Jean-Laurent
Published in Science (American Association for the Advancement of Science) (14.09.2007)
Published in Science (American Association for the Advancement of Science) (14.09.2007)
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Journal Article
Consensus clinical management guidelines for Niemann-Pick disease type C
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
Published in Orphanet journal of rare diseases (06.04.2018)
Published in Orphanet journal of rare diseases (06.04.2018)
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