Хайлтын үр дүнгүүд - Goizet, Cyril

Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia -н Durand, Christelle M., Angelini, Chloé, Michaud, Vincent, Delleci, Claire, Coupry, Isabelle, Goizet, Cyril, Trimouille, Aurelien

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A new phenotype of choreic syndrome associating severe freezing of gait and chorea -н Laurens, Brice, Delleci, Claire, Goizet, Cyril, Spampinato, Umberto, Burbaud, Pierre, Guillaud, Etienne, Bestaven, Emma, Guehl, Dominique

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From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene -н Pyromali, Ioanna, Benslimane, Nesrine, Favreau, Frédéric, Goizet, Cyril, Lazaro, Leila, Vitry, Martine, Derouault, Paco, Sturtz, Franck, Magdelaine, Corinne, Lia, Anne-Sophie

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Characterization of XPR1/SLC53A1 variants located outside of the SPX domain in patients with primary familial brain calcification -н López-Sánchez, Uriel, Nicolas, Gaël, Richard, Anne-Claire, Maltête, David, Charif, Mahmoud, Ayrignac, Xavier, Goizet, Cyril, Touhami, Jawida, Labesse, Gilles, Battini, Jean-Luc, Sitbon, Marc

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Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment -н Politei, Juan M., Bouhassira, Didier, Germain, Dominique P., Goizet, Cyril, Guerrero‐Sola, Antonio, Hilz, Max J., Hutton, Elspeth J., Karaa, Amel, Liguori, Rocco, Üçeyler, Nurcan, Zeltzer, Lonnie K., Burlina, Alessandro

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Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis -н Louvrier, Camille, Pasmant, Eric, Briand-Suleau, Audrey, Cohen, Joëlle, Nitschké, Patrick, Nectoux, Juliette, Orhant, Lucie, Zordan, Cécile, Goizet, Cyril, Goutagny, Stéphane, Lallemand, Dominique, Vidaud, Michel, Vidaud, Dominique, Kalamarides, Michel, Parfait, Béatrice

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Rare variants in the GABA(A) receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes -н Markus, Fenja, Angelini, Chloé, Trimouille, Aurelien, Rudolf, Gabrielle, Lesca, Gaetan, Goizet, Cyril, Lasseaux, Eulalie, Arveiler, Benoit, van Slegtenhorst, Marjon, Brooks, Alice S., Abou Jamra, Rami, Korenke, Georg‐Christoph, Neidhardt, John, Owczarek‐Lipska, Marta

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Evidence of mosaicism in SPAST variant carriers in four French families -н Angelini, Chloé, Goizet, Cyril, Said, Samia Ait, Camu, William, Depienne, Christel, Heron, Bénédicte, Kol, Bophara, Guillaud-Bataille, Marine, Pennamen, Perrine, Rooryck, Caroline, Scherer-Gagou, Clarisse, Tissier, Laurène, Stevanin, Giovanni, Leguern, Eric, Banneau, Guillaume

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AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation? -н 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., Lenaers, Guy

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Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation -н 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, Maltecca, Francesca

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Disrupted filamin A/α(IIb)β(3) interaction induces macrothrombocytopenia by increasing RhoA activity -н 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, Raslova, Hana

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Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome -н Hanein, Sylvain, Martin, Elodie, Boukhris, Amir, Byrne, Paula, Goizet, Cyril, Hamri, Abdelmadjid, Benomar, Ali, Lossos, Alexander, Denora, Paola, Fernandez, José, Elleuch, Nizar, Forlani, Sylvie, Durr, Alexandra, Feki, Imed, Hutchinson, Michael, Santorelli, Filippo M., Mhiri, Chokri, Brice, Alexis, Stevanin, Giovanni

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Infantile Alexander Disease: Spectrum of GFAP Mutations and Genotype-Phenotype Correlation -н Rodriguez, Diana, Gauthier, Fernande, Bertini, Enrico, Bugiani, Marianna, Brenner, Michael, N'guyen, Sylvie, Goizet, Cyril, Gelot, Antoinette, Surtees, Robert, Pedespan, Jean-Michel, Hernandorena, Xavier, Troncoso, Monica, Uziel, Graziela, Messing, Albee, Ponsot, Gérard, Pham-Dinh, Danielle, Dautigny, André, Boespflug-Tanguy, Odile

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Effectiveness of Anti-Psychotics and Related Drugs in the Huntington French-Speaking Group Cohort -н Désaméricq, Gaëlle, Dolbeau, Guillaume, Verny, Christophe, Charles, Perrine, Durr, Alexandra, Youssov, Katia, Simonin, Clémence, Azulay, Jean-Philippe, Tranchant, Christine, Goizet, Cyril, Damier, Philippe, Broussolle, Emmanuel, Demonet, Jean-François, Morgado, Graca, de Langavant, Laurent Cleret, Macquin-Mavier, Isabelle, Bachoud-Lévi, Anne-Catherine, Maison, Patrick

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LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2 -н 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, Stojkovic, Tanya

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Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect -н Nadjar, Yann, Hütter-Moncada, Ana Lucia, Latour, Philippe, Ayrignac, Xavier, Kaphan, Elsa, Tranchant, Christine, Cintas, Pascal, Degardin, Adrian, Goizet, Cyril, Laurencin, Chloe, Martzolff, Lionel, Tilikete, Caroline, Anheim, Mathieu, Audoin, Bertrand, Deramecourt, Vincent, De Gaillarbois, Thierry Dubard, Roze, Emmanuel, Lamari, Foudil, Vanier, Marie T., Héron, Bénédicte

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Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient -н Burglen, Lydie, Chantot-Bastaraud, Sandra, Garel, Catherine, Milh, Mathieu, Touraine, Renaud, Zanni, Ginevra, Petit, Florence, Afenjar, Alexandra, Goizet, Cyril, Barresi, Sabina, Coussement, Aurélie, Ioos, Christine, Lazaro, Leila, Joriot, Sylvie, Desguerre, Isabelle, Lacombe, Didier, des Portes, Vincent, Bertini, Enrico, Siffroi, Jean-Pierre, Billette de Villemeur, Thierry, Rodriguez, Diana

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Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome -н 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, Albuisson, Juliette

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Understanding the Early Presentation of Mucopolysaccharidoses Disorders: Results of a Systematic Literature Review and Physician Survey -н Clarke, Lorne, Ellaway, Carolyn, Foster, Helen E., Giugliani, Roberto, Goizet, Cyril, Goring, Sarah, Hawley, Sara, Jurecki, Elaina, Khan, Zaeem, Lampe, Christina, Martin, Ken, McMullen, Suzanne, Mitchell, John J., Mubarack, Fathima, Sivri, H. Serap, Villarreal, Martha Solano, Stewart, Fiona J., Tylki-Szymanska, Anna, White, Klane, Wijburg, Frits

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COMT Val(158)Met Polymorphism Modulates Huntington's Disease Progression -н de Diego-Balaguer, Ruth, Schramm, Catherine, Rebeix, Isabelle, Dupoux, Emmanuel, Durr, Alexandra, Brice, Alexis, Charles, Perrine, Cleret de Langavant, Laurent, Youssov, Katia, Verny, Christophe, Damotte, Vincent, Azulay, Jean-Philippe, Goizet, Cyril, Simonin, Clémence, Tranchant, Christine, Maison, Patrick, Rialland, Amandine, Schmitz, David, Jacquemot, Charlotte, Fontaine, Bertrand, Bachoud-Lévi, Anne-Catherine

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