161 results on '"Elmaleh‐Bergès, Monique"'
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2. Orbital Masses in Children
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Elmaleh-Bergès, Monique, Bergès, Olivier, and Bergès, Olivier, editor
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- 2024
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3. Eye Masses in Children
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Bergès, Olivier, Elmaleh-Bergès, Monique, and Bergès, Olivier, editor
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- 2024
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4. Correction: Imaging of parotid anomalies in infants and children
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Chalard, François, Hermann, Anne-Laure, Elmaleh-Bergès, Monique, and le Pointe, Hubert Ducou
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- 2022
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5. Imaging of parotid anomalies in infants and children
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Chalard, François, Hermann, Anne-Laure, Elmaleh-Bergès, Monique, and Ducou le Pointe, Hubert
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- 2022
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6. Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus
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Wagner, Matias, Lévy, Jonathan, Jung-Klawitter, Sabine, Bakhtiari, Somayeh, Monteiro, Fabiola, Maroofian, Reza, Bierhals, Tatjana, Hempel, Maja, Elmaleh-Bergès, Monique, Kitajima, Joao P., Kim, Chong A., Salomao, Julia G., Amor, David J., Cooper, Monica S., Perrin, Laurence, Pipiras, Eva, Neu, Axel, Doosti, Mohammad, Karimiani, Ehsan G., Toosi, Mehran B., Houlden, Henry, Jin, Sheng Chih, Si, Yue C., Rodan, Lance H., Venselaar, Hanka, Kruer, Michael C., Kok, Fernando, Hoffmann, Georg F., Strom, Tim M., Wortmann, Saskia B., Tabet, Anne-Claude, and Opladen, Thomas
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- 2020
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7. Spectral-based thickness profiling of the corpus callosum enhances anomaly detection in fetal alcohol spectrum disorders
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Fraize, Justine, primary, Leprince, Yann, additional, Elmaleh-Bergès, Monique, additional, Kerdreux, Eliot, additional, Delorme, Richard, additional, Hertz-Pannier, Lucie, additional, Lefèvre, Julien, additional, and Germanaud, David, additional
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- 2023
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8. Paralysie faciale de l'enfant
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Van Den Abbeele, Thierry, primary and Elmaleh-Bergès, Monique, additional
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- 2020
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9. Liste des collaborateurs
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Ayache, Denis, primary, Barbut, Jonathan, additional, Barreau, Xavier, additional, Baujat, Bertrand, additional, Bazin, Arnaud, additional, Bernardeschi, Daniele, additional, Bricaire, François, additional, Charpiot, Anne, additional, Chays, André, additional, Cornu, Nicolas, additional, Darrouzet, Vincent, additional, Deguine, Olivier, additional, Denoix, Luna, additional, Devic, Perrine, additional, Disant, François, additional, Drouillard, Mylène, additional, Dubernard, Xavier, additional, Elmaleh-Bergès, Monique, additional, Fieux, Maxime, additional, Foirest, Claire, additional, Franco-Vidal, Valérie, additional, Gallois, Yohan, additional, Gatignol, Peggy, additional, Guevara, Nicolas, additional, Guichard, Jean-Pierre, additional, Herman, Philippe, additional, Hervochon, Rémi, additional, Kania, Romain, additional, Kleiber, Jean-Charles, additional, Kolb, Frédéric, additional, Lahlou, Ghizlène, additional, Lamas, Georges, additional, Lannadère, Élodie, additional, Lavieille, Jean-Pierre, additional, Mamelle, Élisabeth, additional, Marques, Cindy, additional, Molinier-Blossier, Sandrine, additional, de Monès del Pujol, Erwan, additional, Montava, Marion, additional, de Andrade, Alvaro Muiños, additional, Pasche, Philippe, additional, Picard, Diane, additional, Plantier, Diogo, additional, Qassemyar, Quentin, additional, Raffaelli, Charles, additional, Amédée Roch, Jean, additional, Saadoun, David, additional, Tankéré, Frédéric, additional, Tringali, Stéphane, additional, Trunet, Stéphanie, additional, Van Den Abbeele, Thierry, additional, Veillon, Francis, additional, Verillaud, Benjamin, additional, Vertu-Ciolino, Delphine, additional, Vincent, Christophe, additional, and Willer, Jean-Claude, additional
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- 2020
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10. Mapping corpus callosum surface reduction in fetal alcohol spectrum disorders with sulci and connectivity-based parcellation
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Fraize, Justine, primary, Convert, Gabrielle, additional, Leprince, Yann, additional, Sylvestre-Marconville, Florent, additional, Kerdreux, Eliot, additional, Auzias, Guillaume, additional, Lefèvre, Julien, additional, Delorme, Richard, additional, Elmaleh-Bergès, Monique, additional, Hertz-Pannier, Lucie, additional, and Germanaud, David, additional
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- 2023
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11. PACS2pathogenic variant associated with malformation of cortical development and epilepsy
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Checri, Rayann, Dozières‐Puyravel, Blandine, Elmaleh‐Bergès, Monique, Verloes, Alain, and Auvin, Stéphane
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PACS2pathogenic variants are associated with an autosomal dominant syndrome (OMIM DEE66), associating developmental and epileptic encephalopathy, facial dysmorphism, and cerebellar dysgenesis. However, no malformation of cortical development has been reported yet. We report here a seven‐year‐old child with a history of infantile epileptic spasm syndrome and a right insular polymicrogyria and pachygyria due to de novo PACS2recurrent mutation c.625G>A (p.Glu209Lys). Our observation raises the question of the role of PACS2in the cortical development. It also reminds the importance of cerebellar anomalies in the recognition of PACS‐related DEE.
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- 2024
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12. Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation
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Dorboz, Imen, Dumay-Odelot, Hélene, Boussaid, Karima, Bouyacoub, Yosra, Barreau, Pauline, Samaan, Simon, Jmel, Haifa, Eymard-Pierre, Eleonore, Cances, Claude, Bar, Céline, Poulat, Anne-Lise, Rousselle, Christophe, Renaldo, Florence, Elmaleh- Bergès, Monique, Teichmann, Martin, and Boespflug-Tanguy, Odile
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- 2018
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13. Enhancing fetal alcohol spectrum disorders diagnosis with a classifier based on the intracerebellar gradient of volumetric undersizing
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Fraize, Justine, primary, Fischer, Clara, additional, Elmaleh‐Bergès, Monique, additional, Kerdreux, Eliot, additional, Beggiato, Anita, additional, Ntorkou, Alexandra, additional, Duchesnay, Edouard, additional, Bekha, Dhaif, additional, Boespflug‐Tanguy, Odile, additional, Delorme, Richard, additional, Hertz‐Pannier, Lucie, additional, and Germanaud, David, additional
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- 2023
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14. Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory
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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, and Schaer, Marie
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- 2016
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15. Subperiosteal orbital abscess: volumetric criteria for surgical drainage
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Tabarino, Florian, Elmaleh-Bergès, Monique, Quesnel, Stéphanie, Lorrot, Mathie, Van Den Abbeele, Thierry, and Teissier, Natacha
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- 2015
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16. Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis
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Paquay, Stéphanie, Bourillon, Agnès, Pichard, Samia, Benoist, Jean-François, de Lonlay, Pascale, Dobbelaere, Dries, Fouilhoux, Alain, Guffon, Nathalie, Rouvet, Isabelle, Labarthe, François, Mention, Karine, Touati, Guy, Valayannopoulos, Vassili, Ogier de Baulny, Hélène, Elmaleh-Bergès, Monique, Acquaviva-Bourdain, Cécile, Vianey-Saban, Christine, and Schiff, Manuel
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- 2017
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17. Autosomal recessive primary microcephaly due to ASPM mutations: An update
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Létard, Pascaline, Drunat, Séverine, Vial, Yoann, Duerinckx, Sarah, Ernault, Anais, Amram, Daniel, Arpin, Stéphanie, Bertoli, Marta, Busa, Tiffany, Ceulemans, Berten, Desir, Julie, Doco‐Fenzy, Martine, Elalaoui, Siham Chafai, Devriendt, Koenraad, Faivre, Laurence, Francannet, Christine, Geneviève, David, Gérard, Marion, Gitiaux, Cyril, Julia, Sophie, Lebon, Sébastien, Lubala, Toni, Mathieu‐Dramard, Michèle, Maurey, Hélène, Metreau, Julia, Nasserereddine, Sanaa, Nizon, Mathilde, Pierquin, Geneviève, Pouvreau, Nathalie, Rivier‐Ringenbach, Clothilde, Rossi, Massimiliano, Schaefer, Elise, Sefiani, Abdelaziz, Sigaudy, Sabine, Sznajer, Yves, Tunca, Yusuf, Guilmin Crepon, Sophie, Alberti, Corinne, Elmaleh‐Bergès, Monique, Benzacken, Brigitte, Wollnick, Bernd, Woods, C. Geoffrey, Rauch, Anita, Abramowicz, Marc, El Ghouzzi, Vincent, Gressens, Pierre, Verloes, Alain, and Passemard, Sandrine
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- 2018
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18. Liste des collaborateurs
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Fayoux, Pierre, primary, Couloigner, Vincent, additional, Amaddeo, Alessandro, additional, Ayari-Khalfallah, Sonia, additional, Bernardeschi, Céline, additional, Blanchard, Marion, additional, Blanchet, Catherine, additional, Bonneau, Dominique, additional, Mardion, Nicolas Bon, additional, Broucqsault, Hélène, additional, Calmels, Marie-Noëlle, additional, Casteil, Lylou, additional, Célérier, Charlotte, additional, Coffinet, Laurent, additional, Levy, Julia Cohen, additional, Coulombeau, Bruno, additional, Daniel, Sam J., additional, Denoyelle, Françoise, additional, Deschildre, Antoine, additional, Elmaleh-Bergès, Monique, additional, Farinetti, Anne, additional, Faure, Frédéric, additional, Fauroux, Brigitte, additional, François, Martine, additional, Froehlich, Patrick, additional, Garabédian, Noël, additional, Gardini, Bertrand, additional, Hitier, Martin, additional, Hosana, Grégory, additional, Kuffer, Roger, additional, Leboulanger, Nicolas, additional, Lescanne, Emmanuel, additional, Loundon, Natalie, additional, Mareau, Cécile, additional, Marianowski, Rémi, additional, Marie, Jean-Paul, additional, Marlin, Sandrine, additional, Michaud, Laurent, additional, Mom, Thierry, additional, Mondain, Michel, additional, Mordacq, Clémence, additional, Moreddu, Éric, additional, Nevoux, Jérôme, additional, Nicollas, Richard, additional, Nowak, Catherine, additional, Patron, Vincent, additional, Perrot, Claire, additional, Pitiot, Vincent, additional, Letourmy, Soizick Pondaven, additional, Querat, Charlotte, additional, Roman, Stéphane, additional, Saroul, Nicolas, additional, Schmaltz, Hélène, additional, Teissier, Natacha, additional, Thierry, Briac, additional, Triglia, Jean-Michel, additional, Truy, Éric, additional, Van Den Abbeele, Thierry, additional, and Wood, Chantal, additional
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- 2017
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19. Imagerie
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Elmaleh-Bergès, Monique, primary
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- 2017
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20. Neuropathology findings in KCNQ2 neonatal epileptic encephalopathy.
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Legros, Ludovic, primary, Adle-Biassette, Homa, additional, Dozières-Puyravel, Blandine, additional, Khung, Suonavy, additional, Elmaleh-Bergès, Monique, additional, Lesca, Gaëtan, additional, Delanoë, Catherine, additional, Biran, Valérie, additional, and Auvin, Stéphane, additional
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- 2022
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21. Covid-19: Possible trigger of SLC13A3 reversible leukoencephalopathy relapse?
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Imbard, Apolline, primary, Pernet, Julie, additional, Tarrano, Clément, additional, Lacroix, Denis, additional, Elmaleh-Bergès, Monique, additional, and Schiff, Manuel, additional
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- 2022
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22. Neurological outcome in WDR62 primary microcephaly.
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Ruaud, Lyse, Drunat, Séverine, Elmaleh-Bergès, Monique, Ernault, Anais, Guilmin Crepon, Sophie, MCPH Consortium, Pirson, Isabelle, El Ghouzzi, Vincent, Auvin, Stéphane, Verloes, Alain, Passemard, Sandrine, Ruaud, Lyse, Drunat, Séverine, Elmaleh-Bergès, Monique, Ernault, Anais, Guilmin Crepon, Sophie, MCPH Consortium, Pirson, Isabelle, El Ghouzzi, Vincent, Auvin, Stéphane, Verloes, Alain, and Passemard, Sandrine
- Abstract
To characterize the cortical structure, developmental, and cognitive profiles of patients with WD repeat domain 62 (WDR62)-related primary microcephaly., 0, info:eu-repo/semantics/published
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- 2022
23. Chapitre 7 - Infections ORL
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Elmaleh-Bergès, Monique
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- 2022
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24. Extracranial carotid arteriopathy in stroke-free children with sickle cell anemia: detection by submandibular Doppler sonography
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Verlhac, Suzanne, Balandra, Stéphane, Cussenot, Isabelle, Kasbi, Florence, Vasile, Manuela, Kheniche, Ahmed, Elmaleh-Bergès, Monique, Ithier, Ghislaine, Benkerrou, Malika, Bernaudin, Françoise, and Sebag, Guy
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- 2014
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25. Neurological outcome in WDR62 primary microcephaly
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Ruaud, Lyse, Drunat, Séverine, Elmaleh‐Bergès, Monique, Ernault, Anais, Guilmin Crepon, Sophie, Ghouzzi, Vincent El, Auvin, Stéphane, Verloes, Alain, Van Maldergem, Lionel, Engel, Camille, Altuzarra, Cecilia, Lamidieu, Charlie, Bayat, Allan, Moortgat, Stéphanie, Pelc, Karine, Maystadt, Isabelle, Abramowicz, Marc, Pirson, Isabelle, Duerinckx, Sarah, Rostomashvili, Nino, Zweier, Christiane, Abou Jamra, Rami, Lorenz, Imke, Haye, Damien, Zaafrane‐Khachnaoui, Khaoula, Vaessen, Sandrine, Capri, Yline, Servais, Laurent, Di Maria, Emilio, Kohlhase, Jürgen, Bast, Thomas, Miladi, Najoua, Dali, Selma, Passemard, Sandrine, Maladies neurodéveloppementales et neurovasculaires (NeuroDiderot (UMR_S_1141 / U1141)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Hôpital Robert Debré, Département de génétique [Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital universitaire Robert-Debré [Paris], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
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Male ,Pediatrics ,medicine.medical_specialty ,Adolescent ,Primary microcephaly ,Cell Cycle Proteins ,Nerve Tissue Proteins ,Outcome (game theory) ,Young Adult ,03 medical and health sciences ,0302 clinical medicine ,Developmental Neuroscience ,Intellectual Disability ,Humans ,Medicine ,Child ,610 Medicine & health ,030304 developmental biology ,0303 health sciences ,[SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics ,business.industry ,[SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive Sciences ,[SDV.BDD.EO]Life Sciences [q-bio]/Development Biology/Embryology and Organogenesis ,[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Microcephaly ,Ataxia ,Female ,Neurology (clinical) ,business ,030217 neurology & neurosurgery - Abstract
International audience; AIM To characterize the cortical structure, developmental, and cognitive profiles of patients with WD repeat domain 62 (WDR62)-related primary microcephaly.METHOD In this observational study, we describe the developmental, neurological, cognitive, and brain imaging characteristics of 17 patients (six males, 11 females; mean age 12y 3mo standard deviation [SD] 5y 8mo, range 5y-24y 6mo) and identify 14 new variants of WDR62. We similarly analyse the phenotypes and genotypes of the 59 previously reported families.RESULTS Brain malformations, including pachygyria, neuronal heterotopia, schizencephaly, and microlissencephaly, were present in 11 out of 15 patients. The mean full-scale IQ of the 11 assessed patients was 51.8 (standard deviation SD] 12.6, range 40-70). Intellectual disability was severe in four patients, moderate in four, and mild in three. Scores on the Vineland Adaptive Behavior Scales obtained from 10 patients were low for communication and motor skills (mean 38.29, SD 7.74, and 37.71, SD 5.74 respectively). The socialization score was higher (mean 47.14, SD 12.39). We found a significant difference between scores for communication and daily living skills (mean 54.43, SD 11.6; p=0.001, one-way analysis of variance). One patient displayed progressive ataxia.Interpretation: WDR62-related cognitive consequences may be less severe than expected because 3 out of 11 of the assessed patients had only mild intellectual disability and relatively preserved abilities of autonomy in daily life. We identified progressive ataxia in the second decade of life in one patient, which should encourage clinicians to follow up patients in the long term.
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- 2021
26. Pericallosal lipoma and middle cerebral artery aneurysm: a coincidence?
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Sommet, Julie, Schiff, Manuel, Evrard, Philippe, Blanc, Raphaël, and Elmaleh-Bergès, Monique
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- 2010
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27. Catatonia in a patient with Aicardi-Goutières syndrome efficiently treated with immunoadsorption
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Ayrolles, Anaël, Ellul, Pierre, Renaldo, Florence, Boespflug-Tanguy, Odile, Delorme, Richard, Drunat, Séverine, Elmaleh-Bergès, Monique, Kwon, Theresa, Rozenberg, Flore, Bondet, Vincent, Duffy, Darragh, Crow, Yanick J., and Melki, Isabelle
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- 2020
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28. Chapitre 17 - Paralysie faciale de l'enfant: Particularités cliniques et radiologiques, étiologies et traitement
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Van Den Abbeele, Thierry and Elmaleh-Bergès, Monique
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- 2020
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29. Contribution of fetal MRI to the diagnosis of inner ear abnormalities: report of two cases
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Tilea, Bogdana, Garel, Catherine, Menez, Françoise, Vuillard, Edith, Elmaleh-Bergès, Monique, Delezoide, Anne-Lise, and Sebag, Guy
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- 2006
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30. Detection of postoperative residual cholesteatoma with delayed contrast-enhanced MR imaging: initial findings
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Williams, Marc T., Ayache, Denis, Alberti, Corinne, Héran, Françoise, Lafitte, François, Elmaleh-Bergès, Monique, and Piekarski, Jean-Daniel
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- 2003
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31. Auteurs et collaborateurs
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Caputo, Georges, primary, Metge-Galatoire, Florence, additional, Arndt, Carl, additional, Conrath, John, additional, Affortit-Demoge, Aude, additional, Aknin, Cédric, additional, Audren, François, additional, Baeteman, Christophe, additional, Basdekidou, Chrysanthi, additional, Becquet, Frank, additional, Behar-Cohen, Francine, additional, Bergès, Olivier, additional, Berrod, Jean-Paul, additional, Bonnel, Sébastien, additional, Bovey, Étienne, additional, Brézin, Antoine P., additional, Cassoux, Nathalie, additional, Chauvaud, Dominique, additional, Chiquet, Christophe, additional, Cochereau, Isabelle, additional, Creuzot-Garcher, Catherine, additional, Daudin, Jean-Baptiste, additional, Defoort-Dhellemmes, Sabine, additional, Denion, Éric, additional, Desjardins, Laurence, additional, Devin, François, additional, Devys, Jean-Michel, additional, Donnette, François-Xavier, additional, Ducasse, Alain, additional, Dureau, Pascal, additional, Edelson, Catherine, additional, Elmaleh-Bergès, Monique, additional, El Sanharawi, Mohamed, additional, Favard, Catherine, additional, Frau, Éric, additional, Freton, Aurélien, additional, Galatoire, Olivier, additional, Galland, Frédéric, additional, Gastaud, Pierre, additional, Gaudric, Alain, additional, Girmens, Jean-François, additional, Glacet-Bernard, Agnès, additional, Guez-Daudin, Alexandra, additional, Haouchine, Belkacem, additional, Jeanny, Jean-Claude, additional, Korobelnik, Jean-François, additional, Krivosic, Valérie, additional, Laloum, Jacques, additional, Le Mer, Yannick, additional, Le Rouic, Jean-François, additional, Lecleire-Collet, Amélie, additional, Lumbroso-Le Rouic, Livia, additional, Massin, Pascale, additional, Meunier, Isabelle, additional, Monin, Claire, additional, Morel, Christophe, additional, Morin, Bruno, additional, Moulin, Alexandre, additional, Pagot-Mathis, Véronique, additional, Parrat, Éric, additional, Pierre-Kahn, Vincent, additional, Puech, Bernard, additional, Savoldelli, Michèle, additional, Tadayoni, Ramin, additional, Teyssot, Nicolas, additional, Thuret, Gilles, additional, Weber, Michel, additional, Wolfensberger, Thomas J., additional, Yhuel, Yann, additional, and Zech, Jean-Christophe, additional
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- 2011
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32. CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects
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Nasser, Hala, primary, Vera, Liza, additional, Elmaleh-Bergès, Monique, additional, Steindl, Katharina, additional, Letard, Pascaline, additional, Teissier, Natacha, additional, Ernault, Anais, additional, Guimiot, Fabien, additional, Afenjar, Alexandra, additional, Moutard, Marie Laure, additional, Héron, Delphine, additional, Alembik, Yves, additional, Momtchilova, Martha, additional, Milani, Paolo, additional, Kubis, Nathalie, additional, Pouvreau, Nathalie, additional, Zollino, Marcella, additional, Guilmin Crepon, Sophie, additional, Kaguelidou, Florentia, additional, Gressens, Pierre, additional, Verloes, Alain, additional, Rauch, Anita, additional, El Ghouzzi, Vincent, additional, Drunat, Severine, additional, and Passemard, Sandrine, additional
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- 2020
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33. Cervical Bronchogenic Cysts: Usual and Unusual Clinical Presentations
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Teissier, Natacha, Elmaleh-Bergès, Monique, Ferkdadji, Latifa, François, Martine, and Van Den Abbeele, Thierry
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- 2008
34. SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation
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Dewulf, Joseph, Wiame, Elsa, Dorboz, Imen, Elmaleh-Bergès, Monique, Imbard, Apolline, Dumitriu, Dana Loana, Rak, Malgorzata, Bourillon, Agnès, Helaers, Raphaël, Malla, Alisha, Renaldo, Florence, Boespflug-Tanguy, Odile, Vincent, Marie-Françoise, Benoist, Jean-François, Wevers, Ron A, Schlessinger, Avner, Van Schaftingen, Emile, Nassogne, Marie-Cécile, Schiff, Manuel, Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies (PROTECT), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Robert Debré, Hôpital Robert Debré-Centre Hospitalier Universitaire de Reims (CHU Reims), Service de biochimie-hormonologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Research Unit in Molecular Biology (URBM-NARILIS), Université de Namur [Namur] (UNamur), Service de neurologie pédiatrique et maladies métaboliques, Département de Biochimie [AP-HP Hôpital Robert Debré], AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Department of Bioengineering and Therapeutic Sciences, University of California [San Francisco] (UCSF), University of California-University of California, Laboratoire de Chimie Physiologique, ICP and UCL, Cliniques Universitaires Saint-Luc [Bruxelles], Centre Référence des Maladies Héréditaires du Métabolisme [Paris-Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Service de neurologie, maladies métaboliques, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Diderot - Paris 7 (UPD7)-Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Université de Namur [Namur], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré-Service de neurologie, maladies métaboliques, UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique, UCL - SSS/DDUV/GEHU - Génétique, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Service de biochimie médicale, UCL - (SLuc) Service de radiologie, and UCL - (SLuc) Service de neurologie pédiatrique
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Male ,Aspartic Acid ,Magnetic Resonance Spectroscopy ,Adolescent ,Symporters ,[SDV]Life Sciences [q-bio] ,Mutation, Missense ,Succinic Acid ,Magnetic Resonance Imaging ,Pedigree ,Tonsillitis ,HEK293 Cells ,Leukoencephalopathies ,Child, Preschool ,Exome Sequencing ,Humans ,Ketoglutaric Acids ,Female ,Respiratory Tract Infections ,ComputingMilieux_MISCELLANEOUS - Abstract
OBJECTIVE: SLC13A3 encodes the plasma membrane Na+ /dicarboxylate cotransporter 3, which imports inside the cell 4 to 6 carbon dicarboxylates as well as N-acetylaspartate (NAA). SLC13A3 is mainly expressed in kidney, in astrocytes, and in the choroid plexus. We describe two unrelated patients presenting with acute, reversible (and recurrent in one) neurological deterioration during a febrile illness. Both patients exhibited a reversible leukoencephalopathy and a urinary excretion of α-ketoglutarate (αKG) that was markedly increased and persisted over time. In one patient, increased concentrations of cerebrospinal fluid NAA and dicarboxylates (including αKG) were observed. Extensive workup was unsuccessful, and a genetic cause was suspected. METHODS: Whole exome sequencing (WES) was performed. Our teams were connected through GeneMatcher. RESULTS: WES analysis revealed variants in SLC13A3. A homozygous missense mutation (p.Ala254Asp) was found in the first patient. The second patient was heterozygous for another missense mutation (p.Gly548Ser) and an intronic mutation affecting splicing as demonstrated by reverse transcriptase polymerase chain reaction performed in muscle tissue (c.1016 + 3A > G). Mutations and segregation were confirmed by Sanger sequencing. Functional studies performed on HEK293T cells transiently transfected with wild-type and mutant SLC13A3 indicated that the missense mutations caused a marked reduction in the capacity to transport αKG, succinate, and NAA. INTERPRETATION: SLC13A3 deficiency causes acute and reversible leukoencephalopathy with marked accumulation of αKG. Urine organic acids (especially αKG and NAA) and SLC13A3 mutations should be screened in patients presenting with unexplained reversible leukoencephalopathy, for which SLC13A3 deficiency is a novel differential diagnosis.
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- 2018
35. Paediatric‐onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis
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Dozières‐Puyravel, Blandine, primary, Nasser, Hala, additional, Elmaleh‐Bergès, Monique, additional, Lopez Hernandez, Elisa, additional, Gelot, Antoinette, additional, Ilea, Adina, additional, Delanoë, Catherine, additional, Puech, Jean‐Philippe, additional, Caillaud, Catherine, additional, Pichard, Samia, additional, and Auvin, Stéphane, additional
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- 2019
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36. SLC13A3 variants cause acute reversible leukoencephalopathy and α‐ketoglutarate accumulation
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Dewulf, Joseph P., primary, Wiame, Elsa, additional, Dorboz, Imen, additional, Elmaleh‐Bergès, Monique, additional, Imbard, Apolline, additional, Dumitriu, Dana, additional, Rak, Malgorzata, additional, Bourillon, Agnès, additional, Helaers, Raphaël, additional, Malla, Alisha, additional, Renaldo, Florence, additional, Boespflug‐Tanguy, Odile, additional, Vincent, Marie‐Françoise, additional, Benoist, Jean‐François, additional, Wevers, Ron A., additional, Schlessinger, Avner, additional, Van Schaftingen, Emile, additional, Nassogne, Marie‐Cécile, additional, and Schiff, Manuel, additional
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- 2019
- Full Text
- View/download PDF
37. High prevalence of syndromic disorders in patients with non-isolated central precocious puberty
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Wannes, Selmen, primary, Elmaleh-Bergès, Monique, additional, Simon, Dominique, additional, Zénaty, Delphine, additional, Martinerie, Laetitia, additional, Storey, Caroline, additional, Gelwane, Georges, additional, Paulsen, Anne, additional, Ecosse, Emmanuel, additional, De Roux, Nicolas, additional, Carel, Jean Claude, additional, and Léger, Juliane, additional
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- 2018
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38. Autosomal recessive primary microcephaly due to ASPM mutations: An update
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UCL - (SLuc) Centre de génétique médicale UCL, UCL - SSS/IREC/SLUC - Pôle St.-Luc, Létard, Pascaline, Drunat, Séverine, Vial, Yoann, Duerinckx, Sarah, Ernault, Anais, Amram, Daniel, Arpin, Stéphanie, Bertoli, Marta, Busa, Tiffany, Ceulemans, Berten, Desir, Julie, Doco-Fenzy, Martine, Elalaoui, Siham Chafai, Devriendt, Koenraad, Faivre, Laurence, Francannet, Christine, Geneviève, David, Gérard, Marion, Gitiaux, Cyril, Julia, Sophie, Lebon, Sébastien, Lubala, Toni, Mathieu-Dramard, Michèle, Maurey, Hélène, Metreau, Julia, Nasserereddine, Sanaa, Nizon, Mathilde, Pierquin, Geneviève, Pouvreau, Nathalie, Rivier-Ringenbach, Clothilde, Rossi, Massimiliano, Schaefer, Elise, Sefiani, Abdelaziz, Sigaudy, Sabine, Sznajer, Yves, Tunca, Yusuf, Guilmin Crepon, Sophie, Alberti, Corinne, Elmaleh-Bergès, Monique, Benzacken, Brigitte, Wollnick, Bernd, Woods, C. Geoffrey, Rauch, Anita, Abramowicz, Marc, El Ghouzzi, Vincent, Gressens, Pierre, Verloes, Alain, Passemard, Sandrine, UCL - (SLuc) Centre de génétique médicale UCL, UCL - SSS/IREC/SLUC - Pôle St.-Luc, Létard, Pascaline, Drunat, Séverine, Vial, Yoann, Duerinckx, Sarah, Ernault, Anais, Amram, Daniel, Arpin, Stéphanie, Bertoli, Marta, Busa, Tiffany, Ceulemans, Berten, Desir, Julie, Doco-Fenzy, Martine, Elalaoui, Siham Chafai, Devriendt, Koenraad, Faivre, Laurence, Francannet, Christine, Geneviève, David, Gérard, Marion, Gitiaux, Cyril, Julia, Sophie, Lebon, Sébastien, Lubala, Toni, Mathieu-Dramard, Michèle, Maurey, Hélène, Metreau, Julia, Nasserereddine, Sanaa, Nizon, Mathilde, Pierquin, Geneviève, Pouvreau, Nathalie, Rivier-Ringenbach, Clothilde, Rossi, Massimiliano, Schaefer, Elise, Sefiani, Abdelaziz, Sigaudy, Sabine, Sznajer, Yves, Tunca, Yusuf, Guilmin Crepon, Sophie, Alberti, Corinne, Elmaleh-Bergès, Monique, Benzacken, Brigitte, Wollnick, Bernd, Woods, C. Geoffrey, Rauch, Anita, Abramowicz, Marc, El Ghouzzi, Vincent, Gressens, Pierre, Verloes, Alain, and Passemard, Sandrine
- Abstract
Autosomal recessive microcephaly or microcephaly primary hereditary (MCPH) is a genetically heterogeneous neurodevelopmental disorder characterized by a reduction in brain volume, indirectly measured by an occipitofrontal circumference (OFC) 2 standard deviations or more below the age- and sex-matched mean (-2SD) at birth and -3SD after 6 months, and leading to intellectual disability of variable severity. The abnormal spindle-like microcephaly gene (ASPM), the human ortholog of the Drosophila melanogaster "abnormal spindle" gene (asp), encodes ASPM, a protein localized at the centrosome of apical neuroprogenitor cells and involved in spindle pole positioning during neurogenesis. Loss-of-function mutations in ASPM cause MCPH5, which affects the majority of all MCPH patients worldwide. Here, we report 47 unpublished patients from 39 families carrying 28 new ASPM mutations, and conduct an exhaustive review of the molecular, clinical, neuroradiological, and neuropsychological features of the 282 families previously reported (with 161 distinct ASPM mutations). Furthermore, we show that ASPM-related microcephaly is not systematically associated with intellectual deficiency and discuss the association between the structural brain defects (strong reduction in cortical volume and surface area) that modify the cortical map of these patients and their cognitive abilities.
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- 2018
39. Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability
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Létard, Pascaline, Drunat, Séverine, Vial, Yoann, Duerinckx, Sarah, Ernault, Anais, Amram, Daniel, Arpin, Stéphanie, Bertoli, Marta, Busa, Tiffany, Ceulemans, Berten, Desir, Julie, Doco-Fenzy, Martine, Elalaoui, Siham Chafai, Devriendt, Koenraad, Faivre, Laurence, Francannet, Christine, Geneviève, Geneviève, Gitiaux, Cyril, Julia, Sophie, Lebon, Sébastien, Lubala, Toni, Mathieu-Dramard, Michèle, Maurey, Hélène, Metreau, Julia, Nasserereddine, Sanaa, Nizon, Mathilde, Pierquin, Geneviève, Pouvreau, Nathalie, Rivier-Ringenbach, Clothilde, Rossi, Massimiliano, Schaefer, Elise, Sznajer, Yves, Tunca, Yusuf, Guilmin Crepon, Sophie, Alberti, Corinne, Elmaleh-Bergès, Monique, Benzacken, Brigitte, Wollnick, Bernd, Woods, C Geoffrey, Rauch, Anita, El Ghouzzi, Vincent, Gressens, Pierre, Verloes, Alain, Passemard, Sandrine, Geneviève, David, Julia, Julia, Woods, C. Geoffrey, Mordel, S, Schaeffer, Stéphane, Dupas, S., Laville, Marie-Alice, Chapon, Françoise, Allouche, S., Mordel, Patrick, Dupas, Quentin, Reggiani, Claudio, Coppens, Sandra, Sekhara, Tayeb, Dimov, Ivan, Pichon, Bruno, Lufin, Nicolas, Addor, Marie-Claude, Belligni, Elga Fabia, Digilio, Maria Cristina, Faletra, Flavio, Ferrero, Giovanni Battista, Gérard, Marion, Isidor, Bertrand, Joss, Shelagh, Niel-Bütschi, Florence, Perrone, Maria Dolores, Petit, Florence, Renieri, Alessandra, Romana, Serge, Topa, Alexandra, Vermeesch, Joris Robert, Lenaerts, Tom, Casimir, Georges, Abramowicz, Marc, Bontempi, Gianluca, Vilain, Catheline, Deconinck, Nicolas, Smits, Guillaume, Université libre de Bruxelles (ULB), Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), University of Turin, IRCCS Ospedale Pediatrico Bambino Gesù [Roma], Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo' [Trieste], Service de Génétique Clinique [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Queen Elizabeth University Hospital (Glasgow), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Università degli Studi di Siena = University of Siena (UNISI), Laboratoire Histologie Embryologie Cytogénétique [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sahlgrenska University Hospital [Gothenburg], Université Catholique de Louvain = Catholic University of Louvain (UCL), Universiteit Gent = Ghent University [Belgium] (UGENT), Hôpital Erasme [Bruxelles] (ULB), Faculté de Médecine [Bruxelles] (ULB), Université libre de Bruxelles (ULB)-Université libre de Bruxelles (ULB), Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies (PROTECT), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), AP-HP Hôpital universitaire Robert-Debré [Paris], UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU), Unité fonctionnelle de génétique clinique, Université Paris Diderot - Paris 7 (UPD7)-Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de génétique [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Antwerp (UA), Institut de Pathologie et Génétique [Gosselies] (I.P.G.), Service de Génétique, Centre Hospitalier Universitaire de Reims (CHU Reims)-Hôpital Maison Blanche-IFR 53, Université de Reims Champagne-Ardenne (URCA)-Université de Reims Champagne-Ardenne (URCA), Centre for Human Genetics, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven)-University Hospitals Leuven [Leuven], Centre Régional de Lutte contre le cancer Georges-François Leclerc [Dijon] (UNICANCER/CRLCC-CGFL), UNICANCER, Service de Génétique Médicale [CHU Clermont-Ferrand], CHU Clermont-Ferrand, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Centre National de la Recherche Scientifique (CNRS), Service de génétique médicale [Toulouse], CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Service de génétique médicale, CHU Amiens-Picardie, Service Neuropédiatrie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Centre de Génétique Humaine, Université de Liège-CHU Liège, Service de pédiatre-Néonatologie, CH Villefranche s/Saone, Centre de recherche en neurosciences de Lyon (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hôpital de Hautepierre [Strasbourg], Medical Genetics, Epidémiologie Clinique et Evaluation Economique Appliquées aux Populations Vulnérables (ECEVE (U1123 / UMR_S_1123)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AP-HP Hôpital universitaire Robert-Debré [Paris], Service d'imagerie pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Département de génétique, Allergy Unit - Department of Dermatology, University of Zürich [Zürich] (UZH), Physiopathologie et neuroprotection des atteintes du cerveau en développement, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale, maladies rares et médecine personnalisée [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Department of Biology [Utah], University of Utah, Laboratoire Evolution, Génomes et Spéciation (LEGS), Centre National de la Recherche Scientifique (CNRS), Hôpital Côte de Nacre [CHU Caen], CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de biochimie [CHU Caen], Signalisation, électrophysiologie et imagerie des lésions d’ischémie-reperfusion myocardique (SEILIRM), Département Génétique Médicale-Maternité, Université de Lorraine (UL), Center for Medical Genetics, Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U1172 Inserm - U837 (JPArc), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Lille Nord de France (COMUE)-Université de Lille, Department of Human Genetics, Radboud University Medical Center [Nijmegen], AI-lab, Vakgroep Computerwetenschappen, Universiteit Gent [Ghent], gerard, marion, Università degli studi di Torino = University of Turin (UNITO), Universiteit Gent = Ghent University (UGENT), and Informatics and Applied Informatics
- Subjects
Male ,0301 basic medicine ,Guanylate Kinases/genetics ,Developmental Disabilities ,Intellectual disability ,lcsh:Medicine ,ASPM ,brain imaging ,brain development ,Tumor Suppressor Proteins -- genetics ,Genome ,Mice ,Intellectual Disability -- genetics -- metabolism ,Global developmental delay ,Copy-number variation ,Promoter Regions, Genetic ,Child ,Genetics (clinical) ,Epigenomics ,Genetics ,ATP6 deletion ,Membrane Proteins -- genetics ,primary microcephaly ,Neurodevelopmental disorders ,food and beverages ,Functional genomics ,Exons ,DLG2 ,Promoters ,Animals ,Female ,Guanylate Kinases ,Humans ,Intellectual Disability ,Membrane Proteins ,Tumor Suppressor Proteins ,Molecular Medicine ,Molecular Biology ,Sciences bio-médicales et agricoles ,[SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN] ,Guanylate Kinases -- genetics ,lcsh:QH426-470 ,Developmental Disabilities/genetics ,Developmental Disabilities/metabolism ,Intellectual Disability/genetics ,Intellectual Disability/metabolism ,Membrane Proteins/genetics ,Tumor Suppressor Proteins/genetics ,Genomics ,[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics ,Biology ,Promoter Regions ,03 medical and health sciences ,Genetic ,Complex V deficiency ,Next generation sequencing ,[SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN] ,Gene ,MCPH ,Developmental Disabilities -- genetics -- metabolism ,Research ,lcsh:R ,Human genetics ,Mitochondrial disease ,lcsh:Genetics ,030104 developmental biology ,centrosome ,[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,NARP syndrome - Abstract
Tissue-specific integrative omics has the potential to reveal new genic elements important for developmental disorders., SCOPUS: ar.j, info:eu-repo/semantics/published
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- 2017
40. Paediatric-onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis.
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Dozières‐Puyravel, Blandine, Nasser, Hala, Elmaleh‐Bergès, Monique, Lopez Hernandez, Elisa, Gelot, Antoinette, Ilea, Adina, Delanoë, Catherine, Puech, Jean‐Philippe, Caillaud, Catherine, Pichard, Samia, Auvin, Stéphane, Dozières-Puyravel, Blandine, Elmaleh-Bergès, Monique, and Puech, Jean-Philippe
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NEURONAL ceroid-lipofuscinosis ,SYMPTOMS ,MAGNETIC resonance imaging ,DISEASE progression ,DIAGNOSIS ,BRAIN ,RESEARCH ,ELECTROENCEPHALOGRAPHY ,RESEARCH methodology ,RETROSPECTIVE studies ,EVALUATION research ,MEDICAL cooperation ,COMPARATIVE studies ,RESEARCH funding - Abstract
Neuronal ceroid lipofuscinoses (NCLs) are rare, progressive disorders. Through this series of 20 patients with NCL, we illustrate differences between subtypes in their presenting symptoms and clinical, imaging, and electrophysiological results to raise awareness of symptom diversity. Data were available on presenting symptoms, genetics, magnetic resonance imaging (MRI), electroencephalography (including with low-frequency intermittent photic stimulation), visual responses, and electron microscopy. Causal mutations were identified in 10 patients. Eleven patients had neuronal ceroid lipofuscinosis type 2 (CLN2) disease and their most common presenting symptom was seizures, although motor and language defects were also reported. Five patients with CLN2 disease showed abnormalities at initial MRI, but only three showed a photic response with low-frequency stimulation. Seizures were not as common a presenting symptom in other NCL subtypes. Patients with NCLs present with diverse symptoms, which may not be characteristic in early disease stages. These signs and symptoms should lead to rapid diagnostic confirmatory testing for NCLs. WHAT THIS PAPER ADDS: Disease presentation is not uniform for neuronal ceroid lipofuscinoses. Characteristic clinical test results may not be identified in early disease stages. [ABSTRACT FROM AUTHOR]
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- 2020
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41. Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.
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UCL - (SLuc) Service de neurologie pédiatrique, Paquay, Stéphanie, Bourillon, Agnès, Pichard, Samia, Benoist, Jean-François, de Lonlay, Pascale, Dobbelaere, Dries, Fouilhoux, Alain, Guffon, Nathalie, Rouvet, Isabelle, Labarthe, François, Mention, Karine, Touati, Guy, Valayannopoulos, Vassili, Ogier de Baulny, Hélène, Elmaleh-Bergès, Monique, Acquaviva-Bourdain, Cécile, Vianey-Saban, Christine, Schiff, Manuel, UCL - (SLuc) Service de neurologie pédiatrique, Paquay, Stéphanie, Bourillon, Agnès, Pichard, Samia, Benoist, Jean-François, de Lonlay, Pascale, Dobbelaere, Dries, Fouilhoux, Alain, Guffon, Nathalie, Rouvet, Isabelle, Labarthe, François, Mention, Karine, Touati, Guy, Valayannopoulos, Vassili, Ogier de Baulny, Hélène, Elmaleh-Bergès, Monique, Acquaviva-Bourdain, Cécile, Vianey-Saban, Christine, and Schiff, Manuel
- Abstract
Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency affects ketone body and isoleucine catabolism. Neurological impairment may occur secondary to ketoacidotic episodes. However, we observed neuromotor abnormalities without ketoacidotic events in two T2-deficient families. We hypothesized that the neurological signs were related to the genetic defect and may occur independently of ketoacidotic episodes. We therefore conducted a retrospective review on a French T2-deficient patient series searching for neuromotor impairment.
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- 2017
42. Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type
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Mercati, Oriane, primary, Pichard, Samia, additional, Ouachée, Marie, additional, Froissart, Roseline, additional, Fenneteau, Odile, additional, Roche, Bastien, additional, Elmaleh-Bergès, Monique, additional, Bertrand, Yves, additional, Ogier de Baulny, Hélène, additional, Vanier, Marie T., additional, and Schiff, Manuel, additional
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- 2017
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43. CDK5RAP2primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects
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Nasser, Hala, Vera, Liza, Elmaleh-Bergès, Monique, Steindl, Katharina, Letard, Pascaline, Teissier, Natacha, Ernault, Anais, Guimiot, Fabien, Afenjar, Alexandra, Moutard, Marie Laure, Héron, Delphine, Alembik, Yves, Momtchilova, Martha, Milani, Paolo, Kubis, Nathalie, Pouvreau, Nathalie, Zollino, Marcella, Guilmin Crepon, Sophie, Kaguelidou, Florentia, Gressens, Pierre, Verloes, Alain, Rauch, Anita, El Ghouzzi, Vincent, Drunat, Severine, and Passemard, Sandrine
- Abstract
BackgroundPrimary hereditary microcephaly (MCPH) comprises a large group of autosomal recessive disorders mainly affecting cortical development and resulting in a congenital impairment of brain growth. Despite the identification of >25 causal genes so far, it remains a challenge to distinguish between different MCPH forms at the clinical level.Methods7 patients with newly identified mutations in CDK5RAP2(MCPH3) were investigated by performing prospective, extensive and systematic clinical, MRI, psychomotor, neurosensory and cognitive examinations under similar conditions.ResultsAll patients displayed neurosensory defects in addition to microcephaly. Small cochlea with incomplete partition type II was found in all cases and was associated with progressive deafness in 4 of them. Furthermore, the CDK5RAP2 protein was specifically identified in the developing cochlea from human fetal tissues. Microphthalmia was also present in all patients along with retinal pigmentation changes and lipofuscin deposits. Finally, hypothalamic anomalies consisting of interhypothalamic adhesions, a congenital midline defect usually associated with holoprosencephaly, was detected in 5 cases.ConclusionThis is the first report indicating that CDK5RAP2not only governs brain size but also plays a role in ocular and cochlear development and is necessary for hypothalamic nuclear separation at the midline. Our data indicate that CDK5RAP2 should be considered as a potential gene associated with deafness and forme fruste of holoprosencephaly. These children should be given neurosensory follow-up to prevent additional comorbidities and allow them reaching their full educational potential.Trial registration numberNCT01565005.
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- 2020
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44. QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease
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Guarani, Virginia, primary, Jardel, Claude, additional, Chrétien, Dominique, additional, Lombès, Anne, additional, Bénit, Paule, additional, Labasse, Clémence, additional, Lacène, Emmanuelle, additional, Bourillon, Agnès, additional, Imbard, Apolline, additional, Benoist, Jean-François, additional, Dorboz, Imen, additional, Gilleron, Mylène, additional, Goetzman, Eric S, additional, Gaignard, Pauline, additional, Slama, Abdelhamid, additional, Elmaleh-Bergès, Monique, additional, Romero, Norma B, additional, Rustin, Pierre, additional, Ogier de Baulny, Hélène, additional, Paulo, Joao A, additional, Harper, J Wade, additional, and Schiff, Manuel, additional
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- 2016
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45. Author response: QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease
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Guarani, Virginia, primary, Jardel, Claude, additional, Chrétien, Dominique, additional, Lombès, Anne, additional, Bénit, Paule, additional, Labasse, Clémence, additional, Lacène, Emmanuelle, additional, Bourillon, Agnès, additional, Imbard, Apolline, additional, Benoist, Jean-François, additional, Dorboz, Imen, additional, Gilleron, Mylène, additional, Goetzman, Eric S, additional, Gaignard, Pauline, additional, Slama, Abdelhamid, additional, Elmaleh-Bergès, Monique, additional, Romero, Norma B, additional, Rustin, Pierre, additional, Ogier de Baulny, Hélène, additional, Paulo, Joao A, additional, Harper, J Wade, additional, and Schiff, Manuel, additional
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- 2016
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46. Liste des auteurs
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Adamsbaum, Catherine, Akkari, Samia, Arama, Emmanuel, Aschero, Audrey, Aubart, Mélodie, Avni, Fred E, Beccaria, Kevin, Bertrand, Margaux, Bessou, Pierre, Blondiaux, Éléonore, Blouet, Marie, Boddaert, Nathalie, Boumerzoug, Meriem, Boutry, Nathalie, Brisse, Hervé, Cardoen, Liesbeth, Chateil, Jean-François, Colavolpe, Nathalie, Dabadie, Alexia, Dangouloff-Ros, Volodia, Delmas, Jean, Desvignes, Catherine, le Pointe, Hubert Ducou, Durand, Chantal, El Fayoumi, Mohamed, Elmaleh-Bergès, Monique, Falip, Céline, Ferey, Solène, Fievet, Adèle, Franchi-Abella, Stéphanie, Garel, Catherine, Grangette, Ève, Grévent, David, Habre, Céline, Hassani, Adnan, Lahoche, Annie, Le Cam, Solène, Lérisson, Héloïse, Levy, Raphaël, Mathiot, Anne, Morel, Baptiste, Nicolas, Nayla, Ouerd, Linda, Petit, Philippe, Pico, Harmony, Priso, Réne-Hilaire, Rapilat, Daniela, Rocher, Laurence, Roux, Charles-Joris, Seiler, Charlotte, Taveau, Catherine Sembély, Suffee, Cécile, Perre, Saskia Vande, Verpillat, Pauline, and Vivier, Pierre-Hugues
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- 2022
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47. Activating Y367C mutation causes hearing loss and inner ear defect in a mouse model of chondrodysplasia
- Author
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Pannier, Stéphanie, Couloigner, Vincent, Messaddeq, Nadia, Elmaleh-Bergès, Monique, Munnich, Arnold, Romand, Raymond, Legeai-Mallet, Laurence, Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service Oto-Rhino-Laryngologie-Chirurgie Cervico-faciale [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service Imagerie Pédiatrique-Hôpital Robert Debré-48 Boulevard Sérurier-75935, Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement ( Inserm U781 ), and Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM )
- Subjects
Life Sciences ,ComputingMilieux_MISCELLANEOUS - Abstract
International audience
- Published
- 2009
48. Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: Four additional patients
- Author
-
Schiff, Manuel, Delahaye, Andrée, Andrieux, Joris, Sanlaville, Damien, Vincent-Delorme, Catherine, Aboura, Azzedine, Benzacken, Brigitte, Bouquillon, Sonia, Elmaleh-Berges, Monique, Labalme, Audrey, Passemard, Sandrine, Perrin, Laurence, Manouvrier-Hanu, Sylvie, Edery, Patrick, Verloes, Alain, and Drunat, Séverine
- Published
- 2010
- Full Text
- View/download PDF
49. Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1
- Author
-
Dorboz, Imen, primary, Coutelier, Marie, additional, Bertrand, Anne T, additional, Caberg, Jean-Hubert, additional, Elmaleh-Bergès, Monique, additional, Lainé, Jeanne, additional, Stevanin, Giovanni, additional, Bonne, Gisèle, additional, Boespflug-Tanguy, Odile, additional, and Servais, Laurent, additional
- Published
- 2014
- Full Text
- View/download PDF
50. Familial CHARGE syndrome because of CHD7 mutation: Clinical intra- and interfamilial variability
- Author
-
Delahaye, André, Sznajer, Yves, Lyonnet, Stanislas, Elmaleh-Bergès, Monique, Delpierre, Isabelle, Audollent, Sophie, Wiener-Vacher, S., Mansbach, Anne-Laure, Amiel, J., Baumann, Clarisse, Bremond-Gignac, Dominique, Attié-Bitach, Tania, Verloes, Alain, Sanlaville, Damien, Delahaye, André, Sznajer, Yves, Lyonnet, Stanislas, Elmaleh-Bergès, Monique, Delpierre, Isabelle, Audollent, Sophie, Wiener-Vacher, S., Mansbach, Anne-Laure, Amiel, J., Baumann, Clarisse, Bremond-Gignac, Dominique, Attié-Bitach, Tania, Verloes, Alain, and Sanlaville, Damien
- Abstract
SCOPUS: ar.j, FLWIN, info:eu-repo/semantics/published
- Published
- 2007
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