Výsledky vyhledávání - Goizet, Cyril

Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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? Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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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