766 results on '"Goizet, Cyril"'
Search Results
2. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
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Husson, Thomas, Lecoquierre, François, Nicolas, Gaël, Richard, Anne-Claire, Afenjar, Alexandra, Audebert-Bellanger, Séverine, Badens, Catherine, Bilan, Frédéric, Bizaoui, Varoona, Boland, Anne, Bonnet-Dupeyron, Marie-Noëlle, Brischoux-Boucher, Elise, Bonnet, Céline, Bournez, Marie, Boute, Odile, Brunelle, Perrine, Caumes, Roseline, Charles, Perrine, Chassaing, Nicolas, Chatron, Nicolas, Cogné, Benjamin, Colin, Estelle, Cormier-Daire, Valérie, Dard, Rodolphe, Dauriat, Benjamin, Delanne, Julian, Deleuze, Jean-François, Demurger, Florence, Denommé-Pichon, Anne-Sophie, Depienne, Christel, Dieux, Anne, Dubourg, Christèle, Edery, Patrick, El Chehadeh, Salima, Faivre, Laurence, Fergelot, Patricia, Fradin, Mélanie, Garde, Aurore, Geneviève, David, Gilbert-Dussardier, Brigitte, Goizet, Cyril, Goldenberg, Alice, Gouy, Evan, Guerrot, Anne-Marie, Guimier, Anne, Harzalla, Inès, Héron, Delphine, Isidor, Bertrand, Lacombe, Didier, Le Guillou Horn, Xavier, Keren, Boris, Kuechler, Alma, Lacaze, Elodie, Lavillaureix, Alinoë, Lehalle, Daphné, Lesca, Gaëtan, Lespinasse, James, Levy, Jonathan, Lyonnet, Stanislas, Morel, Godeliève, Jean-Marçais, Nolwenn, Marlin, Sandrine, Marsili, Luisa, Mignot, Cyril, Nambot, Sophie, Nizon, Mathilde, Olaso, Robert, Pasquier, Laurent, Perrin, Laurine, Petit, Florence, Pingault, Veronique, Piton, Amélie, Prieur, Fabienne, Putoux, Audrey, Planes, Marc, Odent, Sylvie, Quélin, Chloé, Quemener-Redon, Sylvia, Rama, Mélanie, Rio, Marlène, Rossi, Massimiliano, Schaefer, Elise, Rondeau, Sophie, Saugier-Veber, Pascale, Smol, Thomas, Sigaudy, Sabine, Touraine, Renaud, Mau-Them, Frederic Tran, Trimouille, Aurélien, Van Gils, Julien, Vanlerberghe, Clémence, Vantalon, Valérie, Vera, Gabriella, Vincent, Marie, Ziegler, Alban, Guillin, Olivier, Campion, Dominique, and Charbonnier, Camille
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- 2024
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3. White matter abnormalities in 15 subjects with SPG76
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Alkhalifa, Abdulrahman, Chen, Shihan, Hasiloglu, Zehra Isik, Filosto, Massimiliano, Cali, Elisa, Houlden, Henry, Sgobbi de Souza, Paulo, Alavi, Afagh, Goizet, Cyril, Stevanin, Giovanni, Taithe, Frederic, Nicita, Francesco, Vasco, Gessica, Tozza, Stefano, Cocozza, Sirio, Carboni, Nicola, Figus, Andrea, Wu, Jianjun, Basak, A. Nazli, Brais, Bernard, Rouleau, Guy, and La Piana, Roberta
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- 2023
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4. CAG repeat mosaicism is gene specific in spinocerebellar ataxias
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Kacher, Radhia, Lejeune, François-Xavier, David, Isabelle, Boluda, Susana, Coarelli, Giulia, Leclere-Turbant, Sabrina, Heinzmann, Anna, Marelli, Cecilia, Charles, Perrine, Goizet, Cyril, Kabir, Nisha, Hilab, Rania, Jornea, Ludmila, Six, Julie, Dommergues, Marc, Fauret, Anne-Laure, Brice, Alexis, Humbert, Sandrine, and Durr, Alexandra
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- 2024
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5. TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment
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Delplanque, Jérôme, Devos, David, Huin, Vincent, Genet, Alexandre, Sand, Olivier, Moreau, Caroline, Goizet, Cyril, Charles, Perrine, Anheim, Mathieu, Monin, Marie Lorraine, Buée, Luc, Destée, Alain, Grolez, Guillaume, Delmaire, Christine, Dujardin, Kathy, Dellacherie, Delphine, Brice, Alexis, Stevanin, Giovanni, Strubi-Vuillaume, Isabelle, Durr, Alexandra, and Sablonnière, Bernard
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Quantitative Biology - Genomics - Abstract
Autosomal dominant cerebellar ataxia corresponds to a clinically and genetically heterogeneous group of neurodegenerative disorders that primarily affect the cerebellum. Here, we report the identification of the causative gene in spinocerebellar ataxia 21, an autosomal-dominant disorder previously mapped to chromosome 7p21.3-p15.1. This ataxia was firstly characterized in a large French family with slowly progressive cerebellar ataxia, accompanied by severe cognitive impairment and mental retardation in two young children. Following the recruitment of 12 additional young family members, linkage analysis enabled us to definitively map the disease locus to chromosome 1p36.33-p36.32. The causative mutation, (c.509C4T/p.P170L) in the transmembrane protein gene TMEM240, was identified by whole exome sequencing and then was confirmed by Sanger sequencing and co-segregation analyses. Index cases from 368 French families with autosomal-dominant cerebellar ataxia were also screened for mutations. In seven cases, we identified a range of missense mutations (c.509C4T/p.P170L, c.239C4T/p.T80M, c.346C4T/p.R116C, c.445G4A/p.E149K, c.511C4T/p.R171W), and a stop mutation (c.489C4G/p.Y163*) in the same gene. TMEM240 is a small, strongly conserved transmembrane protein of unknown function present in cerebellum and brain. Spinocerebellar ataxia 21 may be a particular early-onset disease associated with severe cognitive impairment.
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- 2020
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6. Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
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Cunha, Paulina, Petit, Emilien, Coutelier, Marie, Coarelli, Giulia, Mariotti, Caterina, Faber, Jennifer, Van Gaalen, Judith, Damasio, Joana, Fleszar, Zofia, Tosi, Michele, Rocca, Clarissa, De Michele, Giovanna, Minnerop, Martina, Ewenczyk, Claire, Santorelli, Filippo M., Heinzmann, Anna, Bird, Thomas, Amprosi, Matthias, Indelicato, Elisabetta, Benussi, Alberto, Charles, Perrine, Stendel, Claudia, Romano, Silvia, Scarlato, Marina, Le Ber, Isabelle, Bassi, Maria Teresa, Serrano, Mercedes, Schmitz-Hübsch, Tanja, Doss, Sarah, Van Velzen, Gijs A.J., Thomas, Quentin, Trabacca, Antonio, Ortigoza-Escobar, Juan Dario, D'Arrigo, Stefano, Timmann, Dagmar, Pantaleoni, Chiara, Martinuzzi, Andrea, Besse-Pinot, Elsa, Marsili, Luca, Cioffi, Ettore, Nicita, Francesco, Giorgetti, Alejandro, Moroni, Isabella, Romaniello, Romina, Casali, Carlo, Ponger, Penina, Casari, Giorgio, De Bot, Susanne T., Ristori, Giovanni, Blumkin, Lubov, Borroni, Barbara, Goizet, Cyril, Marelli, Cecilia, Boesch, Sylvia, Anheim, Mathieu, Filla, Alessandro, Houlden, Henry, Bertini, Enrico, Klopstock, Thomas, Synofzik, Matthis, Riant, Florence, Zanni, Ginevra, Magri, Stefania, Di Bella, Daniela, Nanetti, Lorenzo, Sequeiros, Jorge, Oliveira, Jorge, Van de Warrenburg, Bart, Schöls, Ludger, Taroni, Franco, Brice, Alexis, and Durr, Alexandra
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- 2023
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7. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
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Abbott, Kristin M., Banka, Siddharth, de Boer, Elke, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Gilissen, Christian, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jackson, Adam, Kerstjens, Mieke, Kleefstra, Tjitske, Martín, Estrella López, Macek, Milan, Jr., Matalonga, Leslie, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Pizzi, Simone, Posada, Manuel, Radio, Francesca C., Renieri, Alessandra, Riess, Olaf, Rooryck, Caroline, Ryba, Lukas, Agathe, Jean-Madeleine de Sainte, Santen, Gijs W.E., Schwarz, Martin, Tartaglia, Marco, Thauvin, Christel, Torella, Annalaura, Trimouille, Aurélien, Verloes, Alain, Vissers, Lisenka, Vitobello, Antonio, Votypka, Pavel, Zguro, Kristina, Boer, Elke de, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B.A.W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, ‘t Hoen, Peter A.C., Vissers, Lisenka E.L.M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Duffourd, Yannis, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Lišková, Petra, Doležalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Başak, Ayşe Nazlı, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A.L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Radio, Francesca Clementina, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Fallerini, Chiara, Benetti, Elisa, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, Alembik, Yves, Jean-Marçais, Nolwenn, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Safraou, Hana, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, de Vries, Bert B.A., Willemsen, Marjolein H., and Philippe, Christophe
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- 2023
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8. Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?
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Barbier, Mathieu, Davoine, Claire-Sophie, Petit, Emilien, Porché, Maximilien, Guillot-Noel, Léna, Sayah, Sabrina, Fauret, Anne-Laure, Neau, Jean-Philippe, Guyant-Maréchal, Lucie, Deffond, Didier, Tranchant, Christine, Goizet, Cyril, Coarelli, Giulia, Castrioto, Anna, Klebe, Stephan, Ewenczyk, Claire, Heinzmann, Anna, Charles, Perrine, Tchikviladzé, Maya, Van Broeckhoven, Christine, Brice, Alexis, and Durr, Alexandra
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- 2023
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9. Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation
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Tulli, Susanna, Del Bondio, Andrea, Baderna, Valentina, Mazza, Davide, Codazzi, Franca, Pierson, Tyler Mark, Ambrosi, Alessandro, Nolte, Dagmar, Goizet, Cyril, Toro, Camilo, Baets, Jonathan, Deconinck, Tine, DeJonghe, Peter, Mandich, Paola, Casari, Giorgio, and Maltecca, Francesca
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Biochemistry and Cell Biology ,Biological Sciences ,Rare Diseases ,Aetiology ,2.1 Biological and endogenous factors ,ATP-Dependent Proteases ,ATPases Associated with Diverse Cellular Activities ,Animals ,Calcium ,Fibroblasts ,Genetic Variation ,HEK293 Cells ,Haploinsufficiency ,Humans ,Metalloendopeptidases ,Mice ,Mice ,Knockout ,Mitochondria ,Models ,Biological ,Protein Binding ,Protein Domains ,Protein Multimerization ,Proteolysis ,Proteostasis ,Stress ,Physiological ,Transcriptional Activation ,genetics ,molecular genetics ,movement disorders ,mitochondria ,cell biology ,Medical and Health Sciences ,Genetics & Heredity ,Genetics ,Clinical sciences - Abstract
BACKGROUND:Spinocerebellar ataxia type 28 (SCA28) is a dominantly inherited neurodegenerative disease caused by pathogenic variants in AFG3L2. The AFG3L2 protein is a subunit of mitochondrial m-AAA complexes involved in protein quality control. Objective of this study was to determine the molecular mechanisms of SCA28, which has eluded characterisation to date. METHODS:We derived SCA28 patient fibroblasts carrying different pathogenic variants in the AFG3L2 proteolytic domain (missense: the newly identified p.F664S and p.M666T, p.G671R, p.Y689H and a truncating frameshift p.L556fs) and analysed multiple aspects of mitochondrial physiology. As reference of residual m-AAA activity, we included SPAX5 patient fibroblasts with homozygous p.Y616C pathogenic variant, AFG3L2+/- HEK293 T cells by CRISPR/Cas9-genome editing and Afg3l2 -/- murine fibroblasts. RESULTS:We found that SCA28 cells carrying missense changes have normal levels of assembled m-AAA complexes, while the cells with a truncating pathogenic variant had only half of this amount. We disclosed inefficient mitochondrial fusion in SCA28 cells caused by increased OPA1 processing operated by hyperactivated OMA1. Notably, we found altered mitochondrial proteostasis to be the trigger of OMA1 activation in SCA28 cells, with pharmacological attenuation of mitochondrial protein synthesis resulting in stabilised levels of OMA1 and OPA1 long forms, which rescued mitochondrial fusion efficiency. Secondary to altered mitochondrial morphology, mitochondrial calcium uptake resulted decreased in SCA28 cells. CONCLUSION:Our data identify the earliest events in SCA28 pathogenesis and open new perspectives for therapy. By identifying similar mitochondrial phenotypes between SCA28 cells and AFG3L2+/- cells, our results support haploinsufficiency as the mechanism for the studied pathogenic variants.
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- 2019
10. The burden of Huntington's disease: A prospective longitudinal study of patient/caregiver pairs
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Youssov, Katia, Audureau, Etienne, Vandendriessche, Henri, Morgado, Graca, Layese, Richard, Goizet, Cyril, Verny, Christophe, Bourhis, Marie-Laure, and Bachoud-Lévi, Anne-Catherine
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- 2022
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11. Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia
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Durand, Christelle M., Angelini, Chloé, Michaud, Vincent, Delleci, Claire, Coupry, Isabelle, Goizet, Cyril, and Trimouille, Aurelien
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- 2022
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12. Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial
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Coarelli, Giulia, Heinzmann, Anna, Ewenczyk, Claire, Fischer, Clara, Chupin, Marie, Monin, Marie-Lorraine, Hurmic, Hortense, Calvas, Fabienne, Calvas, Patrick, Goizet, Cyril, Thobois, Stéphane, Anheim, Mathieu, Nguyen, Karine, Devos, David, Verny, Christophe, Ricigliano, Vito A G, Mangin, Jean-François, Brice, Alexis, Tezenas du Montcel, Sophie, and Durr, Alexandra
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- 2022
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13. Primary brain calcification: an international study reporting novel variants and associated phenotypes.
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Ramos, Eliana Marisa, Carecchio, Miryam, Lemos, Roberta, Ferreira, Joana, Legati, Andrea, Sears, Renee Louise, Hsu, Sandy Chan, Panteghini, Celeste, Magistrelli, Luca, Salsano, Ettore, Esposito, Silvia, Taroni, Franco, Richard, Anne-Claire, Tranchant, Christine, Anheim, Mathieu, Ayrignac, Xavier, Goizet, Cyril, Vidailhet, Marie, Maltete, David, Wallon, David, Frebourg, Thierry, Pimentel, Lylyan, Geschwind, Daniel H, Vanakker, Olivier, Galasko, Douglas, Fogel, Brent L, Innes, A Micheil, Ross, Alison, Dobyns, William B, Alcantara, Diana, O'Driscoll, Mark, Hannequin, Didier, Campion, Dominique, French PFBC study group, Oliveira, João R, Garavaglia, Barbara, Coppola, Giovanni, and Nicolas, Gaël
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French PFBC study group ,Humans ,Brain Diseases ,Calcinosis ,Receptor ,Platelet-Derived Growth Factor beta ,Proto-Oncogene Proteins c-sis ,Receptors ,G-Protein-Coupled ,Receptors ,Virus ,Pedigree ,Heterozygote ,Phenotype ,Mutation ,Adolescent ,Adult ,Aged ,Aged ,80 and over ,Middle Aged ,Child ,Female ,Male ,Sodium-Phosphate Cotransporter Proteins ,Type III ,Genetic Variation ,Young Adult ,Cognitive Dysfunction ,Receptor ,Platelet-Derived Growth Factor beta ,Receptors ,G-Protein-Coupled ,Virus ,and over ,Sodium-Phosphate Cotransporter Proteins ,Type III ,Genetics ,Genetics & Heredity ,Clinical Sciences - Abstract
Primary familial brain calcification (PFBC) is a rare cerebral microvascular calcifying disorder with a wide spectrum of motor, cognitive, and neuropsychiatric symptoms. It is typically inherited as an autosomal-dominant trait with four causative genes identified so far: SLC20A2, PDGFRB, PDGFB, and XPR1. Our study aimed at screening the coding regions of these genes in a series of 177 unrelated probands that fulfilled the diagnostic criteria for primary brain calcification regardless of their family history. Sequence variants were classified as pathogenic, likely pathogenic, or of uncertain significance (VUS), based on the ACMG-AMP recommendations. We identified 45 probands (25.4%) carrying either pathogenic or likely pathogenic variants (n = 34, 19.2%) or VUS (n = 11, 6.2%). SLC20A2 provided the highest contribution (16.9%), followed by XPR1 and PDGFB (3.4% each), and PDGFRB (1.7%). A total of 81.5% of carriers were symptomatic and the most recurrent symptoms were parkinsonism, cognitive impairment, and psychiatric disturbances (52.3%, 40.9%, and 38.6% of symptomatic individuals, respectively), with a wide range of age at onset (from childhood to 81 years). While the pathogenic and likely pathogenic variants identified in this study can be used for genetic counseling, the VUS will require additional evidence, such as recurrence in unrelated patients, in order to be classified as pathogenic.
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- 2018
14. Maladie de Huntington et syndromes apparentés
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Lafoucrière, Danielle, primary, Fraisse, Sonia, additional, Bled, Deborah, additional, Goirand, Florence, additional, Le Naour, Catherine, additional, Jameau, Laetitia, additional, and Goizet, Cyril, additional
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- 2022
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15. Evidence of mosaicism in SPAST variant carriers in four French families
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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, and Banneau, Guillaume
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- 2021
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16. Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations
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Méreaux, Jean-Loup, Firanescu, Cristina, Coarelli, Giulia, Kvarnung, Malin, Rodrigues, Rita, Pegoraro, Elena, Tazir, Meriem, Taithe, Frédéric, Valter, Rémi, Huin, Vincent, Lidström, Kristina, Banneau, Guillaume, Morais, Sara, Parodi, Livia, Coutelier, Marie, Papin, Mélanie, Svenningsson, Per, Azulay, Jean-Philippe, Alonso, Isabel, Nilsson, Daniel, Brice, Alexis, Le Guern, Eric, Press, Rayomand, Vazza, Giovanni, Loureiro, José Leal, Goizet, Cyril, Durr, Alexandra, Paucar, Martin, and Stevanin, Giovanni
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- 2021
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17. The value of electrocardiography and echocardiography in distinguishing Fabry disease from sarcomeric hypertrophic cardiomyopathy
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Junqua, Nicolas, Legallois, Damien, Segard, Sophie, Lairez, Olivier, Réant, Patricia, Goizet, Cyril, Maillard, Hélène, Charron, Philippe, Milliez, Paul, and Labombarda, Fabien
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- 2020
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18. Mutation on MT-CO2 gene induces mitochondrial disease associated with neurodegeneration and intracerebral iron accumulation (NBIA)
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Courtois, Sarah, primary, Angelini, Chloé, additional, M. Durand, Christelle, additional, Dias Amoedo, Nivea, additional, Courreges, Armelle, additional, Dumon, Elodie, additional, Le Quang, Mégane, additional, Goizet, Cyril, additional, Martin-Negrier, Marie-Laure, additional, Rossignol, Rodrigue, additional, Lacombe, Didier, additional, Coupry, Isabelle, additional, and Trimouille, Aurélien, additional
- Published
- 2024
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19. HeterozygousSPTLC1p.Leu39del is a major cause of slow-progressing juvenile ALS
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Guissart, Claire, primary, De la Cruz, Elisa, additional, Flabeau, Olivier, additional, Grapperon, Aude-Marie, additional, Corazza, Giovanni, additional, Junilhon, Lucie, additional, Delmas, Jean-Charles, additional, Millecamps, Stéphanie, additional, Polge, Anne, additional, Amador, Maria del Mar, additional, Salachas, Francois, additional, Rochat, Julie, additional, Goizet, Cyril, additional, Juntas Morales, Raul, additional, Lumbroso, Serge, additional, Philibert, Pascal, additional, Cheillan, David, additional, and Mouzat, Kevin, additional
- Published
- 2023
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20. High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disorders
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Mandia, Daniele, Plaze, Marion, Le Ber, Isabelle, Ewenczyk, Claire, Morin, Alexandre, Carle, Guilhem, Consoli, Angèle, Degardin, Adrian, Amad, Ali, Moreau, Caroline, Anheim, Mathieu, Tranchant, Christine, Mélé, Nicolas, Roue-Jagot, Carole, Lagarde, Julien, Sarazin, Marie, Hamelin, Lorraine, Ellul, Pierre, Pagan, Cécile, Pettazzoni, Magali, Bekri, Soumeya, Belliard, Serge, Goizet, Cyril, Wallon, David, Lamari, Foudil, and Nadjar, Yann
- Published
- 2020
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21. Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome
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Billon, Clarisse, Adham, Salma, Hernandez Poblete, Natalia, Legrand, Anne, Frank, Michael, Chiche, Laurent, Zuily, Stephane, Benistan, Karelle, Savale, Laurent, Zaafrane-Khachnaoui, Khaoula, Brehin, Anne-Claire, Bal, Laurence, Busa, Tiffany, Fradin, Mélanie, Quelin, Chloé, Chesneau, Bertrand, Wahl, Denis, Fergelot, Patricia, Goizet, Cyril, Mirault, Tristan, Jeunemaitre, Xavier, and Albuisson, Juliette
- Published
- 2021
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22. Characterization of Fabry Disease cardiac involvement according to longitudinal strain, cardiometabolic exercise test, and T1 mapping
- Author
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Réant, Patricia, Testet, Emilie, Reynaud, Amélie, Bourque, Catherine, Michaud, Matthieu, Rooryck, Caroline, Goizet, Cyril, Lacombe, Didier, de-Précigout, Valérie, Peyrou, Jérôme, Cochet, Hubert, and Lafitte, Stéphane
- Published
- 2020
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23. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.
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Legati, Andrea, Giovannini, Donatella, Nicolas, Gaël, López-Sánchez, Uriel, Quintáns, Beatriz, Oliveira, João RM, Sears, Renee L, Ramos, Eliana Marisa, Spiteri, Elizabeth, Sobrido, María-Jesús, Carracedo, Ángel, Castro-Fernández, Cristina, Cubizolle, Stéphanie, Fogel, Brent L, Goizet, Cyril, Jen, Joanna C, Kirdlarp, Suppachok, Lang, Anthony E, Miedzybrodzka, Zosia, Mitarnun, Witoon, Paucar, Martin, Paulson, Henry, Pariente, Jérémie, Richard, Anne-Claire, Salins, Naomi S, Simpson, Sheila A, Striano, Pasquale, Svenningsson, Per, Tison, François, Unni, Vivek K, Vanakker, Olivier, Wessels, Marja W, Wetchaphanphesat, Suppachok, Yang, Michele, Boller, Francois, Campion, Dominique, Hannequin, Didier, Sitbon, Marc, Geschwind, Daniel H, Battini, Jean-Luc, and Coppola, Giovanni
- Subjects
Humans ,Brain Diseases ,Metabolic ,Inborn ,Neurodegenerative Diseases ,Calcinosis ,Genetic Predisposition to Disease ,Receptors ,G-Protein-Coupled ,Receptors ,Virus ,Pedigree ,DNA Mutational Analysis ,Lod Score ,Mutation ,Missense ,Middle Aged ,Female ,Male ,Genetic Association Studies ,HEK293 Cells ,Xenotropic and Polytropic Retrovirus Receptor ,Neurosciences ,Rare Diseases ,2.1 Biological and endogenous factors ,Aetiology ,Biological Sciences ,Medical and Health Sciences ,Developmental Biology - Abstract
Primary familial brain calcification (PFBC) is a neurological disease characterized by calcium phosphate deposits in the basal ganglia and other brain regions and has thus far been associated with SLC20A2, PDGFB or PDGFRB mutations. We identified in multiple families with PFBC mutations in XPR1, a gene encoding a retroviral receptor with phosphate export function. These mutations alter phosphate export, implicating XPR1 and phosphate homeostasis in PFBC.
- Published
- 2015
24. Coexistence of schwannomatosis and glioblastoma in two families
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Deiller, Caroline, Van-Gils, Julien, Zordan, Cécile, Tinat, Julie, Loiseau, Hugues, Fabre, Thierry, Delleci, Claire, Cohen, Joëlle, Vidaud, Michel, Parfait, Béatrice, and Goizet, Cyril
- Published
- 2019
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25. Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant
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Angelini, Chloé, Van Gils, Julien, Bigourdan, Antoine, Jouk, Pierre-Simon, Lacombe, Didier, Menegon, Patrice, Moutton, Sébastien, Riant, Florence, Sole, Guilhem, Tournier-Lasserve, Elisabeth, Trimouille, Aurélien, Vincent, Marie, and Goizet, Cyril
- Published
- 2019
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26. Disrupted filamin A/αIIbβ3 interaction induces macrothrombocytopenia by increasing RhoA activity
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Donada, Alessandro, Balayn, Nathalie, Sliwa, Dominika, Lordier, Larissa, Ceglia, Valentina, Baschieri, Francesco, Goizet, Cyril, Favier, Rémi, Tosca, Lucie, Tachdjian, Gérard, Denis, Cecile V., Plo, Isabelle, Vainchenker, William, Debili, Najet, Rosa, Jean-Philippe, Bryckaert, Marijke, and Raslova, Hana
- Published
- 2019
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27. Genetics of amyotrophic lateral sclerosis: A review
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Mathis, Stéphane, Goizet, Cyril, Soulages, Antoine, Vallat, Jean-Michel, and Masson, Gwendal Le
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- 2019
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28. Intensification of Diurnal Abnormal Movements During Sleep in Huntington's Disease.
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Salaun, Louis, Bonduelle, Thomas, Ghorayeb, Imad, Spampinato, Umberto, Debruxelles, Sabrina, Guehl, Dominique, and Goizet, Cyril
- Subjects
SLEEP latency ,SLEEP duration ,HUNTINGTON disease ,MOVEMENT disorders ,SLEEP quality ,CATAPLEXY ,HYPERSOMNIA - Abstract
Huntington's disease (HD) is a rare neurodegenerative disorder with a distinct phenotype, including involuntary movements, cognitive decline, and behavioral disturbances. Sleep disorder include insomnia, increased sleep onset latency, decrease in total sleep time with frequent nocturnal awakenings and excessive daytime sleepiness. Increased sleep motor activities and abnormal nocturnal agitation have been increasingly recognized as an important component affecting negatively the sleep quality. Here, we report a case of an intensification of diurnal choreic movement during the night, notably during REM-sleep in a patient with manifest HD. This case highlights the diversity of nocturnal sleep motor disorders encountered in HD. [ABSTRACT FROM AUTHOR]
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- 2024
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29. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
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Husson, Thomas, primary, Lecoquierre, François, additional, Nicolas, Gaël, additional, Richard, Anne-Claire, additional, Afenjar, Alexandra, additional, Audebert-Bellanger, Séverine, additional, Badens, Catherine, additional, Bilan, Frédéric, additional, Bizaoui, Varoona, additional, Boland, Anne, additional, Bonnet-Dupeyron, Marie-Noëlle, additional, Brischoux-Boucher, Elise, additional, Bonnet, Céline, additional, Bournez, Marie, additional, Boute, Odile, additional, Brunelle, Perrine, additional, Caumes, Roseline, additional, Charles, Perrine, additional, Chassaing, Nicolas, additional, Chatron, Nicolas, additional, Cogné, Benjamin, additional, Colin, Estelle, additional, Cormier-Daire, Valérie, additional, Dard, Rodolphe, additional, Dauriat, Benjamin, additional, Delanne, Julian, additional, Deleuze, Jean-François, additional, Demurger, Florence, additional, Denommé-Pichon, Anne-Sophie, additional, Depienne, Christel, additional, Dieux, Anne, additional, Dubourg, Christèle, additional, Edery, Patrick, additional, El Chehadeh, Salima, additional, Faivre, Laurence, additional, Fergelot, Patricia, additional, Fradin, Mélanie, additional, Garde, Aurore, additional, Geneviève, David, additional, Gilbert-Dussardier, Brigitte, additional, Goizet, Cyril, additional, Goldenberg, Alice, additional, Gouy, Evan, additional, Guerrot, Anne-Marie, additional, Guimier, Anne, additional, Harzalla, Inès, additional, Héron, Delphine, additional, Isidor, Bertrand, additional, Lacombe, Didier, additional, Le Guillou Horn, Xavier, additional, Keren, Boris, additional, Kuechler, Alma, additional, Lacaze, Elodie, additional, Lavillaureix, Alinoë, additional, Lehalle, Daphné, additional, Lesca, Gaëtan, additional, Lespinasse, James, additional, Levy, Jonathan, additional, Lyonnet, Stanislas, additional, Morel, Godeliève, additional, Jean-Marçais, Nolwenn, additional, Marlin, Sandrine, additional, Marsili, Luisa, additional, Mignot, Cyril, additional, Nambot, Sophie, additional, Nizon, Mathilde, additional, Olaso, Robert, additional, Pasquier, Laurent, additional, Perrin, Laurine, additional, Petit, Florence, additional, Pingault, Veronique, additional, Piton, Amélie, additional, Prieur, Fabienne, additional, Putoux, Audrey, additional, Planes, Marc, additional, Odent, Sylvie, additional, Quélin, Chloé, additional, Quemener-Redon, Sylvia, additional, Rama, Mélanie, additional, Rio, Marlène, additional, Rossi, Massimiliano, additional, Schaefer, Elise, additional, Rondeau, Sophie, additional, Saugier-Veber, Pascale, additional, Smol, Thomas, additional, Sigaudy, Sabine, additional, Touraine, Renaud, additional, Mau-Them, Frederic Tran, additional, Trimouille, Aurélien, additional, Van Gils, Julien, additional, Vanlerberghe, Clémence, additional, Vantalon, Valérie, additional, Vera, Gabriella, additional, Vincent, Marie, additional, Ziegler, Alban, additional, Guillin, Olivier, additional, Campion, Dominique, additional, and Charbonnier, Camille, additional
- Published
- 2023
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30. Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late‐Onset Phenotypes
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Angelini, Chloé, primary, Durand, Christelle Marie, additional, Fergelot, Patricia, additional, Deforges, Julie, additional, Vital, Anne, additional, Menegon, Patrice, additional, Sarrazin, Elizabeth, additional, Bellance, Rémi, additional, Mathis, Stéphane, additional, Gonzalez, Victoria, additional, Renaud, Mathilde, additional, Frismand, Solène, additional, Schmitt, Emmanuelle, additional, Rouanet, Marie, additional, Burglen, Lydie, additional, Chabrol, Brigitte, additional, Desnous, Béatrice, additional, Arveiler, Benoît, additional, Stevanin, Giovanni, additional, Coupry, Isabelle, additional, and Goizet, Cyril, additional
- Published
- 2023
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31. Non-specific gastrointestinal features: Could it be Fabry disease?
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Hilz, Max J., Arbustini, Eloisa, Dagna, Lorenzo, Gasbarrini, Antonio, Goizet, Cyril, Lacombe, Didier, Liguori, Rocco, Manna, Raffaele, Politei, Juan, Spada, Marco, and Burlina, Alessandro
- Published
- 2018
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32. History and current difficulties in classifying inherited myopathies and muscular dystrophies
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Mathis, Stéphane, Tazir, Meriem, Magy, Laurent, Duval, Fanny, Le Masson, Gwendal, Duchesne, Mathilde, Couratier, Philippe, Ghorab, Karima, Solé, Guilhem, Lacoste, Idoia, Goizet, Cyril, and Vallat, Jean-Michel
- Published
- 2018
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33. Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants
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Gauquelin, Laurence, Cayami, Ferdy K., Sztriha, László, Yoon, Grace, Tran, Luan T., Guerrero, Kether, Hocke, François, van Spaendonk, Rosalina M.L., Fung, Eva L., DʼArrigo, Stefano, Vasco, Gessica, Thiffault, Isabelle, Niyazov, Dmitriy M., Person, Richard, Lewis, Kara Stuart, Wassmer, Evangeline, Prescott, Trine, Fallon, Penny, McEntagart, Meriel, Rankin, Julia, Webster, Richard, Philippi, Heike, van de Warrenburg, Bart, Timmann, Dagmar, Dixit, Abhijit, Searle, Claire, Thakur, Nivedita, Kruer, Michael C., Sharma, Suvasini, Vanderver, Adeline, Tonduti, Davide, van der Knaap, Marjo S., Bertini, Enrico, Goizet, Cyril, Fribourg, Sébastien, Wolf, Nicole I., and Bernard, Geneviève
- Published
- 2019
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- View/download PDF
34. LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2
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Peretti, Alessia, Perie, Maud, Vincent, Didier, Bouhour, Françoise, Dieterich, Klaus, Mallaret, Martial, Duval, Fanny, Goizet, Cyril, Juntas-Morales, Raul, Magy, Laurent, Solé, Guilhem, Nollet, Sylvain, Not, Adeline, Léonard-Louis, Sarah, Francou, Bruno, Leguern, Eric, Lia, Anne-Sophie, Magdelaine, Corinne, Latour, Philippe, and Stojkovic, Tanya
- Published
- 2019
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35. Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies
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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, and Burglen, Lydie
- Published
- 2019
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36. Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants inPOLR3A,POLR3BandPOLR1C
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Mirchi, Amytice, primary, Guay, Simon-Pierre, additional, Tran, Luan T, additional, Wolf, Nicole I, additional, Vanderver, Adeline, additional, Brais, Bernard, additional, Sylvain, Michel, additional, Pohl, Daniela, additional, Rossignol, Elsa, additional, Saito, Michael, additional, Moutton, Sebastien, additional, González-Gutiérrez-Solana, Luis, additional, Thiffault, Isabelle, additional, Kruer, Michael C, additional, Moron, Dolores Gonzales, additional, Kauffman, Marcelo, additional, Goizet, Cyril, additional, Sztriha, László, additional, Glamuzina, Emma, additional, Melançon, Serge B, additional, Naidu, Sakkubai, additional, Retrouvey, Jean-Marc, additional, Lacombe, Suzanne, additional, Bernardino-Cuesta, Beatriz, additional, De Bie, Isabelle, additional, and Bernard, Geneviève, additional
- Published
- 2023
- Full Text
- View/download PDF
37. Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule
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Cayrefourcq, Laure, Vincent, Marie-Claire, Pierredon, Sandra, Moutou, Céline, Imbert-Bouteille, Marion, Haquet, Emmanuelle, Puechberty, Jacques, Willems, Marjolaine, Liautard-Haag, Cathy, Molinari, Nicolas, Zordan, Cécile, Dorian, Virginie, Rooryck-Thambo, Caroline, Goizet, Cyril, Chaussenot, Annabelle, Rouzier, Cécile, Boureau-Wirth, Amandine, Monteil, Laetitia, Calvas, Patrick, Miry, Claire, Favre, Romain, Petrov, Yuliya, Khau Van Kien, Philippe, Le Boette, Elsa, Fradin, Mélanie, Alix-Panabières, Catherine, and Guissart, Claire
- Published
- 2020
- Full Text
- View/download PDF
38. MRI of neurodegeneration with brain iron accumulation
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Lehéricy, Stéphane, Roze, Emmanuel, Goizet, Cyril, and Mochel, Fanny
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- 2020
- Full Text
- View/download PDF
39. Intégration des données histo-pathologiques, biochimiques et génomiques dans le diagnostic des mitochondrio-pathies
- Author
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Trimouille, Aurélien, Courtois, Sarah, Angelini, Chloé, Amoedo, Nivea Dias, Durand, Christelle, Courreges, Armelle, Coupry, Isabelle, Goizet, Cyril, Rossignol, Rodrigue, Lacombe, Didier, Laquerriere, Annie, Espil, Caroline, Bidet, Audrey, Berenguer, Sophie, and Martin-Négrier, Marie-Laure
- Published
- 2023
- Full Text
- View/download PDF
40. Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles
- Author
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Kuster, Alice, Arnoux, Jean-Baptiste, Barth, Magalie, Lamireau, Delphine, Houcinat, Nada, Goizet, Cyril, Doray, Bérénice, Gobin, Stéphanie, Schiff, Manuel, Cano, Aline, Amsallem, Daniel, Barnerias, Christine, Chaumette, Boris, Plaze, Marion, Slama, Abdelhamid, Ioos, Christine, Desguerre, Isabelle, Lebre, Anne-Sophie, de Lonlay, Pascale, Christa, Laurence, and Individual contributors who contributed to this work
- Published
- 2018
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- View/download PDF
41. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
- Author
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Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Denommé-Pichon, Anne-Sophie, Matalonga, Leslie, de Boer, Elke, Jackson, Adam, Benetti, Elisa, Banka, Siddharth, Bruel, Ange-Line, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Duffourd, Yannis, Ellwanger, Kornelia, Fallerini, Chiara, Gilissen, Christian, Graessner, Holm, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jean-Marçais, Nolwenn, Kleefstra, Tjitske, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Pizzi, Simone, Posada, Manuel, Radio, Francesca Clementina, Renieri, Alessandra, Rooryck, Caroline, Ryba, Lukas, Safraou, Hana, Schwarz, Martin, Tartaglia, Marco, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, Trimouille, Aurélien, Votypka, Pavel, de Vries, Bert B. A., Willemsen, Marjolein H., Zurek, Birte, Verloes, Alain, Philippe, Christophe, Abbott, Kristin M., Faivre, Laurence, Kerstjens, Mieke, Martín, Estrella López, Macek Jr., Milan, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Radio, Francesca C., Riess, Olaf, Agathe, Jean-Madeleine De Sainte, Santen, Gijs W. E., Thauvin, Christel, Torella, Annalaura, Vissers, Lisenka, Vitobello, Antonio, Zguro, Kristina, Boer, Elke De, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B. A. W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, `t Hoen, Peter A. C., Vissers, Lisenka E. L. M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris Te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Li\vsková, Petra, Dole\vzalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A. L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, Alembik, Yves, Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Denommé-Pichon, Anne-Sophie, Matalonga, Leslie, de Boer, Elke, Jackson, Adam, Benetti, Elisa, Banka, Siddharth, Bruel, Ange-Line, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Duffourd, Yannis, Ellwanger, Kornelia, Fallerini, Chiara, Gilissen, Christian, Graessner, Holm, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jean-Marçais, Nolwenn, Kleefstra, Tjitske, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Pizzi, Simone, Posada, Manuel, Radio, Francesca Clementina, Renieri, Alessandra, Rooryck, Caroline, Ryba, Lukas, Safraou, Hana, Schwarz, Martin, Tartaglia, Marco, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, Trimouille, Aurélien, Votypka, Pavel, de Vries, Bert B. A., Willemsen, Marjolein H., Zurek, Birte, Verloes, Alain, Philippe, Christophe, Abbott, Kristin M., Faivre, Laurence, Kerstjens, Mieke, Martín, Estrella López, Macek Jr., Milan, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Radio, Francesca C., Riess, Olaf, Agathe, Jean-Madeleine De Sainte, Santen, Gijs W. E., Thauvin, Christel, Torella, Annalaura, Vissers, Lisenka, Vitobello, Antonio, Zguro, Kristina, Boer, Elke De, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B. A. W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, `t Hoen, Peter A. C., Vissers, Lisenka E. L. M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris Te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Li\vsková, Petra, Dole\vzalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A. L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, and Alembik, Yves
- Abstract
Purpose Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock.
- Published
- 2023
42. Heterozygous SPTLC1 p.Leu39del is a major cause of slow- progressing juvenile ALS.
- Author
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Guissart, Claire, De la Cruz, Elisa, Flabeau, Olivier, Grapperon, Aude-Marie, Corazza, Giovanni, Junilhon, Lucie, Delmas, Jean- Charles, Millecamps, Stéphanie, Polge, Anne, Amador, Maria del Mar, Salachas, Francois, Rochat, Julie, Goizet, Cyril, Juntas Morales, Raul, Lumbroso, Serge, Philibert, Pascal, Cheillan, David, and Mouzat, Kevin
- Subjects
MOTOR neuron diseases ,AMYOTROPHIC lateral sclerosis ,LIQUID chromatography-mass spectrometry - Abstract
This article presents a study on juvenile amyotrophic lateral sclerosis (JALS), a rare motor neuron disease that affects individuals under 25 years old. The study focuses on the SPTLC1 gene, which has been linked to JALS. Researchers identified a specific mutation in the SPTLC1 gene, known as p.Leu39del, and found that it is a major cause of JALS. The study also explores the lipid profile of patients with this mutation and suggests that lipid dysmetabolism could be used as biomarkers and therapeutic targets for JALS. The research provides important insights for the genetic diagnosis of JALS and highlights the need for further investigation into SPTLC1 mutations. [Extracted from the article]
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- 2024
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43. AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?
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Roubertie, Agathe, Hieu, Nelson, Roux, Charles-Joris, Leboucq, Nicolas, Manes, Gael, Charif, Majida, Echenne, Bernard, Goizet, Cyril, Guissart, Claire, Meyer, Pierre, Marelli, Cecilia, Rivier, François, Burglen, Lydie, Horvath, Rita, Hamel, Christian P., and Lenaers, Guy
- Published
- 2018
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44. Characterization of XPR1/SLC53A1 variants located outside of the SPX domain in patients with primary familial brain calcification
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López-Sánchez, Uriel, Nicolas, Gaël, Richard, Anne-Claire, Maltête, David, Charif, Mahmoud, Ayrignac, Xavier, Goizet, Cyril, Touhami, Jawida, Labesse, Gilles, Battini, Jean-Luc, and Sitbon, Marc
- Published
- 2019
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45. Diagnosis and management of Becker muscular dystrophy: the French guidelines.
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Magot, Armelle, Wahbi, Karim, Leturcq, France, Jaffre, Sandrine, Péréon, Yann, Sole, Guilhem, Ambrosi, Pierre, Boulle, Ralph, Cances, Claude, Cossee, Mireille, Debelleix, Stéphane, Delleci, Claire, Duboc, Denis, Feasson, Leonard, Ghorab, Karima, Goizet, Cyril, Gonzales, Jesus, Iriart, Xavier, Juntas-Morales, Raul, and Llontop, Claudio
- Subjects
BECKER muscular dystrophy ,DUCHENNE muscular dystrophy ,NEUROMUSCULAR diseases ,NEUROLOGIC examination ,DIAGNOSIS - Abstract
Becker muscular dystrophy (BMD) is one of the most frequent among neuromuscular diseases, affecting approximately 1 in 18,000 male births. It is linked to a genetic mutation on the X chromosome. In contrast to Duchenne muscular dystrophy, for which improved care and management have changed the prognosis and life expectancy of patients, few guidelines have been published for management of BMD. Many clinicians are inexperienced in managing the complications of this disease. In France, a committee of experts from a wide range of disciplines met in 2019 to establish recommendations, with the goal of improving care of patients with BMD. Here, we present the tools to provide diagnosis of BMD as quickly as possible and for differential diagnoses. Then, we describe the multidisciplinary approach essential for optimum management of BMD. We give recommendations for the initial assessment and follow-up of the neurological, respiratory, cardiac, and orthopedic consequences of males who present with BMD. Finally, we describe the optimal therapeutic management of these complications. We also provide guidance on cardiac management for female carriers. [ABSTRACT FROM AUTHOR]
- Published
- 2023
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46. La cystinose chez l’adulte : une maladie systémique
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Servais, Aude, Goizet, Cyril, Bertholet-Thomas, Aurélia, Decramer, Stéphane, Llanas, Brigitte, Choukroun, Gabriel, and Novo, Robert
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- 2015
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47. The different clinical facets of SYN1-related neurodevelopmental disorders
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Parenti, Ilaria, primary, Leitão, Elsa, additional, Kuechler, Alma, additional, Villard, Laurent, additional, Goizet, Cyril, additional, Courdier, Cécile, additional, Bayat, Allan, additional, Rossi, Alessandra, additional, Julia, Sophie, additional, Bruel, Ange-Line, additional, Tran Mau-Them, Frédéric, additional, Nambot, Sophie, additional, Lehalle, Daphné, additional, Willems, Marjolaine, additional, Lespinasse, James, additional, Ghoumid, Jamal, additional, Caumes, Roseline, additional, Smol, Thomas, additional, El Chehadeh, Salima, additional, Schaefer, Elise, additional, Abi-Warde, Marie-Thérèse, additional, Keren, Boris, additional, Afenjar, Alexandra, additional, Tabet, Anne-Claude, additional, Levy, Jonathan, additional, Maruani, Anna, additional, Aledo-Serrano, Ángel, additional, Garming, Waltraud, additional, Milleret-Pignot, Clara, additional, Chassevent, Anna, additional, Koopmans, Marije, additional, Verbeek, Nienke E., additional, Person, Richard, additional, Belles, Rebecca, additional, Bellus, Gary, additional, Salbert, Bonnie A., additional, Kaiser, Frank J., additional, Mazzola, Laure, additional, Convers, Philippe, additional, Perrin, Laurine, additional, Piton, Amélie, additional, Wiegand, Gert, additional, Accogli, Andrea, additional, Brancati, Francesco, additional, Benfenati, Fabio, additional, Chatron, Nicolas, additional, Lewis-Smith, David, additional, Thomas, Rhys H., additional, Zara, Federico, additional, Striano, Pasquale, additional, Lesca, Gaetan, additional, and Depienne, Christel, additional
- Published
- 2022
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48. Renal involvement is frequent in adults with primary mitochondrial disorders: an observational study
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Bakis, Hugo, primary, Trimouille, Aurélien, additional, Vermorel, Agathe, additional, Goizet, Cyril, additional, Belaroussi, Yaniss, additional, Schutz, Sacha, additional, Solé, Guilhem, additional, Combe, Christian, additional, Martin-Negrier, Marie-Laure, additional, and Rigothier, Claire, additional
- Published
- 2022
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49. H47 Toward understanding caregivers burden determinants and reliefs in Huntington’s disease: a longitudinal clustering analysis of patient/caregiver pairs
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Youssov, Katia, primary, Audureau, Etienne, additional, Vandendriessche, Henri, additional, Morgado, Graça, additional, Layese, Richard, additional, Goizet, Cyril, additional, Verny, Christophe, additional, Bourhis, Marie-Laure, additional, and Bachoud-Lévi, Anne-Catherine, additional
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- 2022
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50. Updating the classification of inherited neuropathies: Results of an international survey
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Magy, Laurent, Mathis, Stéphane, Le Masson, Gwendal, Goizet, Cyril, Tazir, Meriem, and Vallat, Jean-Michel
- Published
- 2018
- Full Text
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