Pathogenic Mutations Associated with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Differently Affect Jagged1 Binding and Notch3 Activi...

由 Joutel, Anne, Monet, Marie, Domenga, Valérie, Riant, Florence, Tournier-Lasserve, Elisabeth
出版 2004

FGF14‐related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9

由 Piarroux, Julie, Riant, Florence, Humbertclaude, Véronique, Remerand, Ganaelle, Hadjadj, Jessica, Rejou, Franck, Coubes, Christine, Pinson, Lucile, Meyer, Pierre, Roubertie, Agathe
發表在 Ann Clin Transl Neurol (2020)

Cerebral cavernous malformations arise independent of the Heart of Glass receptor

由 Zheng, Xiangjian, Riant, Florence, Bergametti, Françoise, Myers, Cynthia D, Tang, Alan T, Kleaveland, Benjamin, Pan, Wei, Yang, Jisheng, Tournier-Lasserve, Elisabeth, Kahn, Mark L.
出版 2014

Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene

由 Garaci, Francesco, Marsili, Luisa, Riant, Florence, Marziali, Simone, Cécillon, Michaelle, Pasquarelli, Roberto, Sangiuolo, Federica, Floris, Roberto, Novelli, Giuseppe, Tournier-Lasserve, Elisabeth, Brancati, Francesco
發表在 Neuroradiol J (2015)

Sleep in ADCY5-Related Dyskinesia: Prolonged Awakenings Caused by Abnormal Movements

由 Méneret, Aurélie, Roze, Emmanuel, Maranci, Jean-Baptiste, Dodet, Pauline, Doummar, Diane, Riant, Florence, Tranchant, Christine, Fraix, Valérie, Anheim, Mathieu, Ekmen, Asya, McGovern, Eavan, Vidailhet, Marie, Arnulf, Isabelle, Leu-Semenescu, Smaranda
發表在 J Clin Sleep Med (2019)

Defective membrane expression of the Na(+)-HCO(3)(−) cotransporter NBCe1 is associated with familial migraine

由 Suzuki, Masashi, Van Paesschen, Wim, Stalmans, Ingeborg, Horita, Shoko, Yamada, Hideomi, Bergmans, Bruno A., Legius, Eric, Riant, Florence, De Jonghe, Peter, Li, Yuehong, Sekine, Takashi, Igarashi, Takashi, Fujimoto, Ichiro, Mikoshiba, Katsuhiko, Shimadzu, Mitsunobu, Shiohara, Masaaki, Braverman, Nancy, Al-Gazali, Lihadh, Fujita, Toshiro, Seki, George
出版 2010

Mutation in the 3'untranslated region of APP as a genetic determinant of cerebral amyloid angiopathy

由 Nicolas, Gaël, Wallon, David, Goupil, Claudia, Richard, Anne-Claire, Pottier, Cyril, Dorval, Véronique, Sarov-Rivière, Mariana, Riant, Florence, Hervé, Dominique, Amouyel, Philippe, Guerchet, Maelenn, Ndamba-Bandzouzi, Bebene, Mbelesso, Pascal, Dartigues, Jean-François, Lambert, Jean-Charles, Preux, Pierre-Marie, Frebourg, Thierry, Campion, Dominique, Hannequin, Didier, Tournier-Lasserve, Elisabeth, Hébert, Sébastien S, Rovelet-Lecrux, Anne
發表在 Eur J Hum Genet (2016)

Congenital mirror movements: Mutational analysis of RAD51 and DCC in 26 cases

由 Méneret, Aurélie, Depienne, Christel, Riant, Florence, Trouillard, Oriane, Bouteiller, Delphine, Cincotta, Massimo, Bitoun, Pierre, Wickert, Julia, Lagroua, Isabelle, Westenberger, Ana, Borgheresi, Alessandra, Doummar, Diane, Romano, Marcello, Rossi, Simone, Defebvre, Luc, De Meirleir, Linda, Espay, Alberto J., Fiori, Simona, Klebe, Stephan, Quélin, Chloé, Rudnik-Schöneborn, Sabine, Plessis, Ghislaine, Dale, Russell C., Sklower Brooks, Susan, Dziezyc, Karolina, Pollak, Pierre, Golmard, Jean-Louis, Vidailhet, Marie, Brice, Alexis, Roze, Emmanuel
出版 2014

Mutations in the netrin-1 gene cause congenital mirror movements

由 Méneret, Aurélie, Franz, Elizabeth A., Trouillard, Oriane, Oliver, Thomas C., Zagar, Yvrick, Robertson, Stephen P., Welniarz, Quentin, Gardner, R.J. MacKinlay, Gallea, Cécile, Srour, Myriam, Depienne, Christel, Jasoni, Christine L., Dubacq, Caroline, Riant, Florence, Lamy, Jean-Charles, Morel, Marie-Pierre, Guérois, Raphael, Andreani, Jessica, Fouquet, Coralie, Doulazmi, Mohamed, Vidailhet, Marie, Rouleau, Guy A., Brice, Alexis, Chédotal, Alain, Dusart, Isabelle, Roze, Emmanuel, Markie, David
發表在 J Clin Invest (2017)

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

由 Marsh, Ashley P L, Heron, Delphine, Edwards, Timothy J, Quartier, Angélique, Galea, Charles, Nava, Caroline, Rastetter, Agnès, Moutard, Marie-Laure, Anderson, Vicki, Bitoun, Pierre, Bunt, Jens, Faudet, Anne, Garel, Catherine, Gillies, Greta, Gobius, Ilan, Guegan, Justine, Heide, Solveig, Keren, Boris, Lesne, Fabien, Lukic, Vesna, Mandelstam, Simone A, McGillivray, George, McIlroy, Alissandra, Méneret, Aurélie, Mignot, Cyril, Morcom, Laura R, Odent, Sylvie, Paolino, Annalisa, Pope, Kate, Riant, Florence, Robinson, Gail A, Spencer-Smith, Megan, Srour, Myriam, Stephenson, Sarah E M, Tankard, Rick, Trouillard, Oriane, Welniarz, Quentin, Wood, Amanda, Brice, Alexis, Rouleau, Guy, Attié-Bitach, Tania, Delatycki, Martin B, Mandel, Jean-Louis, Amor, David J, Roze, Emmanuel, Piton, Amélie, Bahlo, Melanie, de Villemeur, Thierry Billette, Sherr, Elliott H, Leventer, Richard J, Richards, Linda J, Lockhart, Paul J, Depienne, Christel
發表在 Nat Genet (2017)