Suchergebnisse - Goizet, Cyril

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