Результаты поиска - Drouot, Nathalie

Early-Onset Brain Tumor and Lymphoma in MSH2-Deficient Children по Bougeard, Gaëlle, Charbonnier, Françoise, Moerman, Alexandre, Martin, Cosette, Ruchoux, Marie M., Drouot, Nathalie, Frébourg, Thierry

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Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome по Schalk, Audrey, Greff, Géraldine, Drouot, Nathalie, Obringer, Cathy, Dollfus, Hélène, Laugel, Vincent, Chelly, Jamel, Calmels, Nadège

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Cerebral Iron Accumulation Is Not a Major Feature of FA2H/SPG35 по Marelli, Cecilia, Salih, Mustafa A., Nguyen, Karine, Mallaret, Martial, Leboucq, Nicolas, Hassan, Hamdy H., Drouot, Nathalie, Labauge, Pierre, Koenig, Michel

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De Novo Mutation in TMEM151A and Paroxysmal Kinesigenic Dyskinesia по Wirth, Thomas, Méneret, Aurélie, Drouot, Nathalie, Rudolf, Gabrielle, Lagha Boukbiza, Ouhaid, Chelly, Jamel, Tranchant, Christine, Piton, Amélie, Roze, Emmanuel, Anheim, Mathieu

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Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants по Marguet, Florent, Vezain, Myriam, Marcorelles, Pascale, Audebert-Bellanger, Séverine, Cassinari, Kévin, Drouot, Nathalie, Chambon, Pascal, Gonzalez, Bruno J., Horowitz, Arie, Laquerriere, Annie, Saugier-Veber, Pascale

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Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2) по Guissart, Claire, Drouot, Nathalie, Oncel, Ibrahim, Leheup, Bruno, Gershoni-Barush, Ruth, Muller, Jean, Ferdinandusse, Sacha, Larrieu, Lise, Anheim, Mathieu, Arslan, Elif Acar, Claustres, Mireille, Tranchant, Christine, Topaloglu, Haluk, Koenig, Michel

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Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders по Montaut, Solveig, Tranchant, Christine, Drouot, Nathalie, Rudolf, Gabrielle, Guissart, Claire, Tarabeux, Julien, Stemmelen, Tristan, Velt, Amandine, Fourrage, Cécile, Nitschké, Patrick, Gerard, Bénédicte, Mandel, Jean-Louis, Koenig, Michel, Chelly, Jamel, Anheim, Mathieu

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Quality Assessment of Whole Genome Mapping Data in the Refined Familial Spastic Paraplegia Interval on Chromosome 14q по Paternotte, Caroline, Rudnicki, Doda, Fizames, Cécile, Davoine, Claire-Sophie, Mavel, Delphine, Dürr, Alexandra, Samson, Delphine, Marquette, Catherine, Muselet, Delphine, Vega-Czarny, Nathalie, Drouot, Nathalie, Voit, Thomas, Fontaine, Bertrand, Gyapay, Gabor, Auburger, Georg, Weissenbach, Jean, Hazan, Jamilé

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Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation по Kim, Christine Y., Wirth, Thomas, Hubsch, Cécile, Németh, Andrea H., Okur, Volkan, Anheim, Mathieu, Drouot, Nathalie, Tranchant, Christine, Rudolf, Gabrielle, Chelly, Jamel, Tatton-Brown, Katrina, Blauwendraat, Cornelis, Vonsattel, Jean Paul G., Cortes, Etty, Alcalay, Roy N., Chung, Wendy K.

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Conditional switching of KIF2A mutation provides new insights into cortical malformation pathogeny по Gilet, Johan G, Ivanova, Ekaterina L, Trofimova, Daria, Rudolf, Gabrielle, Meziane, Hamid, Broix, Loic, Drouot, Nathalie, Courraud, Jeremie, Skory, Valerie, Voulleminot, Paul, Osipenko, Maria, Bahi-Buisson, Nadia, Yalcin, Binnaz, Birling, Marie-Christine, Hinckelmann, Maria-Victoria, Kwok, Benjamin H, Allingham, John S, Chelly, Jamel

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Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism по Fiskerstrand, Torunn, H'mida-Ben Brahim, Dorra, Johansson, Stefan, M'zahem, Abderrahim, Haukanes, Bjørn Ivar, Drouot, Nathalie, Zimmermann, Julian, Cole, Andrew J., Vedeler, Christian, Bredrup, Cecilie, Assoum, Mirna, Tazir, Meriem, Klockgether, Thomas, Hamri, Abdelmadjid, Steen, Vidar M., Boman, Helge, Bindoff, Laurence A., Koenig, Michel, Knappskog, Per M.

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The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation по Mallaret, Martial, Synofzik, Matthis, Lee, Jaeho, Sagum, Cari A., Mahajnah, Muhammad, Sharkia, Rajech, Drouot, Nathalie, Renaud, Mathilde, Klein, Fabrice A. C., Anheim, Mathieu, Tranchant, Christine, Mignot, Cyril, Mandel, Jean-Louis, Bedford, Mark, Bauer, Peter, Salih, Mustafa A., Schüle, Rebecca, Schöls, Ludger, Aldaz, C. Marcelo, Koenig, Michel

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ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q(10) Deficiency по Lagier-Tourenne, Clotilde, Tazir, Meriem, López, Luis Carlos, Quinzii, Catarina M., Assoum, Mirna, Drouot, Nathalie, Busso, Cleverson, Makri, Samira, Ali-Pacha, Lamia, Benhassine, Traki, Anheim, Mathieu, Lynch, David R., Thibault, Christelle, Plewniak, Frédéric, Bianchetti, Laurent, Tranchant, Christine, Poch, Olivier, DiMauro, Salvatore, Mandel, Jean-Louis, Barros, Mario H., Hirano, Michio, Koenig, Michel

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TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis по Ivanova, Ekaterina L., Gilet, Johan G., Sulimenko, Vadym, Duchon, Arnaud, Rudolf, Gabrielle, Runge, Karen, Collins, Stephan C., Asselin, Laure, Broix, Loic, Drouot, Nathalie, Tilly, Peggy, Nusbaum, Patrick, Vincent, Alexandre, Magnant, William, Skory, Valerie, Birling, Marie-Christine, Pavlovic, Guillaume, Godin, Juliette D., Yalcin, Binnaz, Hérault, Yann, Dráber, Pavel, Chelly, Jamel, Hinckelmann, Maria-Victoria

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Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression по Mignot, Cyril, Apartis, Emmanuelle, Durr, Alexandra, Marques Lourenço, Charles, Charles, Perrine, Devos, David, Moreau, Caroline, de Lonlay, Pascale, Drouot, Nathalie, Burglen, Lydie, Kempf, Nadine, Nourisson, Elsa, Chantot-Bastaraud, Sandra, Lebre, Anne-Sophie, Rio, Marlène, Chaix, Yves, Bieth, Eric, Roze, Emmanuel, Bonnet, Isabelle, Canaple, Sandrine, Rastel, Coralie, Brice, Alexis, Rötig, Agnès, Desguerre, Isabelle, Tranchant, Christine, Koenig, Michel, Anheim, Mathieu

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Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development по Ivanova, Ekaterina L., Mau-Them, Frédéric Tran, Riazuddin, Saima, Kahrizi, Kimia, Laugel, Vincent, Schaefer, Elise, de Saint Martin, Anne, Runge, Karen, Iqbal, Zafar, Spitz, Marie-Aude, Laura, Mary, Drouot, Nathalie, Gérard, Bénédicte, Deleuze, Jean-François, de Brouwer, Arjan P.M., Razzaq, Attia, Dollfus, Hélène, Assir, Muhammad Zaman, Nitchké, Patrick, Hinckelmann, Maria-Victoria, Ropers, Hilger, Riazuddin, Sheikh, Najmabadi, Hossein, van Bokhoven, Hans, Chelly, Jamel

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De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder по Mattioli, Francesca, Hayot, Gaelle, Drouot, Nathalie, Isidor, Bertrand, Courraud, Jérémie, Hinckelmann, Maria-Victoria, Mau-Them, Frederic Tran, Sellier, Chantal, Goldman, Alica, Telegrafi, Aida, Boughton, Alicia, Gamble, Candace, Moutton, Sebastien, Quartier, Angélique, Jean, Nolwenn, Van Ness, Paul, Grotto, Sarah, Nambot, Sophie, Douglas, Ganka, Si, Yue Cindy, Chelly, Jamel, Shad, Zohra, Kaplan, Elisabeth, Dineen, Richard, Golzio, Christelle, Charlet-Berguerand, Nicolas, Mandel, Jean-Louis, Piton, Amélie

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Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia по Doummar, Diane, Dentel, Christel, Lyautey, Romane, Metreau, Julia, Keren, Boris, Drouot, Nathalie, Malherbe, Ludivine, Bouilleret, Viviane, Courraud, Jérémie, Valenti-Hirsch, Maria Paola, Minotti, Lorella, Dozieres-Puyravel, Blandine, Bär, Séverine, Scholly, Julia, Schaefer, Elise, Nava, Caroline, Wirth, Thomas, Nasser, Hala, de Salins, Marie, de Saint Martin, Anne, Warde, Marie Thérèse Abi, Kahane, Philippe, Hirsch, Edouard, Anheim, Mathieu, Friant, Sylvie, Chelly, Jamel, Mignot, Cyril, Rudolf, Gabrielle

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Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia по Vermeer, Sascha, Hoischen, Alexander, Meijer, Rowdy P.P., Gilissen, Christian, Neveling, Kornelia, Wieskamp, Nienke, de Brouwer, Arjan, Koenig, Michel, Anheim, Mathieu, Assoum, Mirna, Drouot, Nathalie, Todorovic, Slobodanka, Milic-Rasic, Vedrana, Lochmüller, Hanns, Stevanin, Giovanni, Goizet, Cyril, David, Albert, Durr, Alexandra, Brice, Alexis, Kremer, Berry, van de Warrenburg, Bart P.C., Schijvenaars, Mascha M.V.A.P., Heister, Angelien, Kwint, Michael, Arts, Peer, van der Wijst, Jenny, Veltman, Joris, Kamsteeg, Erik-Jan, Scheffer, Hans, Knoers, Nine

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Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation по Quenez, Olivier, Cassinari, Kevin, Coutant, Sophie, Lecoquierre, François, Le Guennec, Kilan, Rousseau, Stéphane, Richard, Anne-Claire, Vasseur, Stéphanie, Bouvignies, Emilie, Bou, Jacqueline, Lienard, Gwendoline, Manase, Sandrine, Fourneaux, Steeve, Drouot, Nathalie, Nguyen-Viet, Virginie, Vezain, Myriam, Chambon, Pascal, Joly-Helas, Géraldine, Le Meur, Nathalie, Castelain, Mathieu, Boland, Anne, Deleuze, Jean-François, Tournier, Isabelle, Charbonnier, Françoise, Kasper, Edwige, Bougeard, Gaëlle, Frebourg, Thierry, Saugier-Veber, Pascale, Baert-Desurmont, Stéphanie, Campion, Dominique, Rovelet-Lecrux, Anne, Nicolas, Gaël

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