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ATAD3 duplications bridge mitochondrial diseases and Aicardi–Goutières syndrome
Planté‐Bordeneuve, Pauline, Bérat, Claire‐Marine, Hanein, Sylvain, Gitiaux, Cyril, Steffann, Julie, Desguerre, Isabelle, Rötig, Agnès, Boddaert, Nathalie, Barcia, Giulia
Published in Developmental medicine and child neurology (15.07.2025)
Published in Developmental medicine and child neurology (15.07.2025)
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Journal Article
Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin‐1‐deficient patients
Tuchmann‐Durand, Caroline, Roda, Célina, Renard, Perrine, Mortamet, Guillaume, Bérat, Claire‐Marine, Altenburger, Lucile, Larauz, Marie Hug, Thevenet, Eloise, Cottart, Charles‐Henry, Moulin, Florence, Bouchereau, Juliette, Brassier, Anais, Arnoux, Jean‐Baptiste, Schiff, Manuel, Bednarek, Nathalie, Lamireau, Delphine, Garros, Alexa, Mention, Karine, Cano, Aline, Finger, Lionel, Pelosi, Michele, Brochet, Cécile Sergent, Caccavelli, Laure, Raphalen, Jean‐Herlé, Renolleau, Sylvain, Oualha, Mehdi, Lonlay, Pascale
Published in Journal of inherited metabolic disease (01.07.2023)
Published in Journal of inherited metabolic disease (01.07.2023)
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Journal Article
Citrulline in the management of patients with urea cycle disorders
Imbard, Apolline, Bouchereau, Juliette, Arnoux, Jean-Baptiste, Brassier, Anaïs, Schiff, Manuel, Bérat, Claire-Marine, Pontoizeau, Clément, Benoist, Jean-François, Josse, Constant, Montestruc, François, de Lonlay, Pascale
Published in Orphanet journal of rare diseases (21.07.2023)
Published in Orphanet journal of rare diseases (21.07.2023)
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Journal Article
Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect
Bérat, Claire‐Marine, Montealegre, Sebastian, Wiedemann, Arnaud, Nuzum, Malou Le Corronc, Blondel, Amélie, Debruge, Hugo, Cano, Aline, Chabrol, Brigitte, Hoebeke, Célia, Polak, Michel, Stoupa, Athanasia, Feillet, François, Torre, Stéphanie, Boddaert, Nathalie, Bruel, Henri, Barth, Magalie, Damaj, Lena, Abi‐Wardé, Marie‐Thérèse, Afenjar, Alexandra, Benoist, Jean‐François, Madrange, Marine, Caccavelli, Laure, Renard, Perrine, Hubas, Arnaud, Nusbaum, Patrick, Pontoizeau, Clément, Gobin, Stéphanie, Endert, Peter, Ottolenghi, Chris, Maltret, Alice, Lonlay, Pascale
Published in Journal of inherited metabolic disease (01.03.2021)
Published in Journal of inherited metabolic disease (01.03.2021)
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Journal Article
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG
Pajusalu, Sander, Vals, Mari-Anne, Serrano, Mercedes, Witters, Peter, Cechova, Anna, Honzik, Tomáš, Edmondson, Andrew C., Ficicioglu, Can, Barone, Rita, De Lonlay, Pascale, Bérat, Claire-Marine, Vuillaumier-Barrot, Sandrine, Lam, Christina, Patterson, Marc C., Janssen, Mirian C. H., Martins, Esmeralda, Quelhas, Dulce, Sykut-Cegielska, Jolanta, Mousa, Jehan, Urreizti, Roser, McWilliams, Peter, Vernhes, Frederique, Plotkin, Horacio, Morava, Eva, Õunap, Katrin
Published in Human mutation (2024)
Published in Human mutation (2024)
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Journal Article
Case report: Exceptional transmission of congenital hyperinsulinism from a focal CHI mother to her diffuse CHI dichorionic diamniotic twins
Telehuz, Daniela, Plesa, Oana, Bouilloud, Florence, Wucher, Helene, De Lonlay, Pascale, Bérat, Claire-Marine, Saint-Martin, Cécile, Dupuy, Olivier, Arnoux, Jean-Baptiste
Published in Frontiers in endocrinology (Lausanne) (17.06.2024)
Published in Frontiers in endocrinology (Lausanne) (17.06.2024)
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Journal Article
Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings
Brassier, Anaïs, Pichard, Samia, Schiff, Manuel, Bouchereau, Juliette, Bérat, Claire-Marine, Caillaud, Catherine, Pion, Aude, Khraiche, Diala, Fauroux, Brigitte, Oualha, Mehdi, Barnerias, Christine, Desguerre, Isabelle, Hully, Marie, Maquet, Marion, Deladrière, Elodie, de Lonlay, Pascale, Gitiaux, Cyril
Published in Molecular genetics and metabolism (01.08.2023)
Published in Molecular genetics and metabolism (01.08.2023)
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Journal Article
Enteral tube feeding in patients receiving dietary treatment for metabolic diseases: A retrospective analysis in a large French cohort
Bérat, Claire-Marine, Roda, Célina, Brassier, Anais, Bouchereau, Juliette, Wicker, Camille, Servais, Aude, Dubois, Sandrine, Assoun, Murielle, Belloche, Claire, Barbier, Valérie, Leboeuf, Virginie, Petit, François M., Gaignard, Pauline, Lebigot, Elise, Bérat, Pierre-Jean, Pontoizeau, Clément, Touati, Guy, Talbotec, Cécile, Campeotto, Florence, Ottolenghi, Chris, Arnoux, Jean-Baptiste, de Lonlay pascale, Pascale
Published in Molecular genetics and metabolism reports (01.03.2021)
Published in Molecular genetics and metabolism reports (01.03.2021)
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Journal Article
Childhood POLG-related disorders: Focus on polyradiculoneuropathy
Bérat, Claire-Marine, Hully, Marie, Rötig, Agnès, Barcia, Giulia, Assouline, Zahra, Abi-Warde, Marie-Thérèse, Barnerias, Christine, Payen, Elise, Jaroussie, Marianne, Gaignard, Pauline, Lebigot, Elise, Roubertie, Agathe, Boddaert, Nathalie, Roux, Charles-Joris, de Lonlay, Pascale, Desguerre, Isabelle, Munnich, Arnold, Schiff, Manuel, Gitiaux, Cyril
Published in Molecular genetics and metabolism (01.09.2025)
Published in Molecular genetics and metabolism (01.09.2025)
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Journal Article
Clinical, biochemical, and molecular findings in adults with hyperammonemia: A French bi-centric retrospective study
Maquet, Julien, Pontoizeau, Clément, Imbard, Apolline, Gobin-Limballe, Stéphanie, Arnoux, Jean-Baptiste, Le Guillou, Édouard, Dubot, Patricia, Brassier, Anaïs, Bérat, Claire-Marine, Altenburger, Lucile, Bouchereau, Juliette, Servais, Aude, Dao, Myriam, Bonnefont, Jean-Paul, Ottolenghi, Chris, Benoist, Jean-François, de Lonlay, Pascale, Schiff, Manuel
Published in Molecular genetics and metabolism (01.09.2025)
Published in Molecular genetics and metabolism (01.09.2025)
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Journal Article
Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management
Wicker, Camille, Roux, Charles-Joris, Goujon, Louise, de Feraudy, Yvan, Hully, Marie, Brassier, Anais, Bérat, Claire-Marine, Chemaly, Nicole, Wiedemann, Arnaud, Damaj, Lena, Abi-Warde, Marie-Thérèse, Dobbelaere, Dries, Roubertie, Agathe, Cano, Aline, Arion, Alina, Kaminska, Anna, Da Costa, Sabrina, Bruneel, Arnaud, Vuillaumier-Barrot, Sandrine, Boddaert, Nathalie, Pascreau, Tiffany, Borgel, Delphine, Kossorotoff, Manoelle, Harroche, Annie, de Lonlay, P.
Published in Molecular genetics and metabolism (01.11.2023)
Published in Molecular genetics and metabolism (01.11.2023)
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Journal Article
Vitamin deficiencies in children: Lessons from clinical and neuroimaging findings
Dupuy, Gabrielle, Roux, Charles-Joris, Barrois, Rémi, Imbard, Apolline, Pontoizeau, Clément, Dangles, Marie Thérèse, Aubart, Mélodie, Arnoux, Jean-Baptiste, Margoses, Diane, Brassier, Anaïs, Marbach, Clothilde, Bérat, Claire-Marine, Sarda, Eugénie, Gitiaux, Cyril, de Lonlay, Pascale, Boddaert, Nathalie, Schiff, Manuel, Desguerre, Isabelle
Published in European journal of paediatric neurology (01.05.2024)
Published in European journal of paediatric neurology (01.05.2024)
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Journal Article
JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study
Frémond, Marie-Louise, Hully, Marie, Fournier, Benjamin, Barrois, Rémi, Lévy, Romain, Aubart, Mélodie, Castelle, Martin, Chabalier, Delphine, Gins, Clarisse, Sarda, Eugénie, Al Adba, Buthaina, Couderc, Sophie, D’ Almeida, Céline, Berat, Claire-Marine, Durrleman, Chloé, Espil, Caroline, Lambert, Laetitia, Méni, Cécile, Périvier, Maximilien, Pillet, Pascal, Polivka, Laura, Schiff, Manuel, Todosi, Calina, Uettwiller, Florence, Lepelley, Alice, Rice, Gillian I., Seabra, Luis, Sanquer, Sylvia, Hulin, Anne, Pressiat, Claire, Goldwirt, Lauriane, Bondet, Vincent, Duffy, Darragh, Moshous, Despina, Bader-Meunier, Brigitte, Bodemer, Christine, Robin-Renaldo, Florence, Boddaert, Nathalie, Blanche, Stéphane, Desguerre, Isabelle, Crow, Yanick J., Neven, Bénédicte
Published in Journal of clinical immunology (01.08.2023)
Published in Journal of clinical immunology (01.08.2023)
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Journal Article
Standardized emergency protocols to improve the management of patients with suspected or confirmed inherited metabolic disorders (IMDs): An initiative of the French IMDs Healthcare Network for Rare Diseases
Bouchereau, Juliette, Wicker, Camille, Mention, Karine, Marbach, Clothilde, Do Cao, Jeremy, Berat, Claire-Marine, Jaroussie, Marianne, Cano, Aline, Gorce, Magali, Garros, Alexa, Kuster, Alice, Hoebeke, Célia, Mayer, Claire, Brassier, Anaïs, Gouya, Laurent, Schrimpf, Cécile, Arnoux, Jean-Baptiste, Schiff, Manuel, Acquaviva-Bourdain, Cécile, Benoist, Jean-François, Courapied, Sandy, Broué, Pierre, Oualha, Mehdi, Douillard, Claire, de Lonlay, Pascale
Published in Molecular genetics and metabolism (01.09.2024)
Published in Molecular genetics and metabolism (01.09.2024)
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Journal Article
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency
Rötig, Agnès, Gaignard, Pauline, Barcia, Giulia, Assouline, Zahra, Berat, Claire-Marine, Barth, Magalie, Damaj, Léna, Laborde, Nolwenn, Abi-Warde, Marie-Thérèse, Chabrol, Brigitte, De Lonlay, Pascale, Desguerre, Isabelle, Goldenberg, Alice, Gonzales, Emmanuel, Jacquemin, Emmanuel, Amati -Bonneau, Patrizia, Bonneau, Dominique, Abadie, Véronique, Bonnemains, Chrystèle, Broue, Pierre, De Saint-Martin, Anne, Durand, Philippe, Fouilhoux, Alain, Isidor, Bertrand, Jaroussie, Marianne, Jedraszak, Guillaume, Maurey, Hélène, Mention, Karine, Odent, Sylvie S., Pasquier, Laurent, Rougeot-Jung, Christelle, Gitiaux, Cyril, Roux, Charles-Joris, Boddaert, Nathalie, Munnich, Arnold, Schiff, Manuel
Published in Neurology. Genetics (01.08.2024)
Published in Neurology. Genetics (01.08.2024)
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Journal Article
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants
Wortmann, Saskia B., Feichtinger, Rene G., Abela, Lucia, van Gemert, Loes A., Aubart, Mélodie, Dufeu-Berat, Claire-Marine, Boddaert, Nathalie, de Coo, Rene, Stühn, Lara, Hebbink, Jasmijn, Heinritz, Wolfram, Hildebrandt, Julia, Himmelreich, Nastassja, Korenke, Christoph, Lehman, Anna, Leyland, Thomas, Makowski, Christine, Martinez Marin, Rafael Jenaro, Marzin, Pauline, Mühlhausen, Chris, Rio, Marlène, Rotig, Agnes, Roux, Charles-Joris, Schiff, Manuel, Haack, Tobias B., Syrbe, Steffen, Zylicz, Stas A., Thiel, Christian, Veiga da Cunha, Maria, van Schaftingen, Emile, Wagner, Matias, Mayr, Johannes A., Wevers, Ron A., Boltshauser, Eugen, Willemsen, Michel A.
Published in Neurology. Genetics (01.04.2024)
Published in Neurology. Genetics (01.04.2024)
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Journal Article