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2. Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease.

Author

Pinard, Amélie, Ye, Wenlei, Fraser, Stuart M, Rosenfeld, Jill A, Pichurin, Pavel, Hickey, Scott E, Guo, Dongchuan, Cecchi, Alana C, Boerio, Maura L, Guey, Stéphanie, Aloui, Chaker, Lee, Kwanghyuk, Kraemer, Markus, Alyemni, Saleh Omar, Bamshad, Michael J, Nickerson, Deborah A, Tournier-Lasserve, Elisabeth, Haider, Shozeb, Jin, Sheng Chih, Smith, Edward R, Kahle, Kristopher T, Jan, Lily Yeh, He, Mu, and Milewicz, Dianna M

Subjects
Genetics, Clinical Research, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, stroke genetics, smooth muscle cells, genetic heterogeneity, pathogenesis, genotype-phenotype, University of Washington Center for Mendelian Genomics, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
Abstract

Moyamoya disease, a cerebrovascular disease leading to strokes in children and young adults, is characterized by progressive occlusion of the distal internal carotid arteries and the formation of collateral vessels. Altered genes play a prominent role in the etiology of moyamoya disease, but a causative gene is not identified in the majority of cases. Exome sequencing data from 151 individuals from 84 unsolved families were analyzed to identify further genes for moyamoya disease, then candidate genes assessed in additional cases (150 probands). Two families had the same rare variant in ANO1, which encodes a calcium-activated chloride channel, anoctamin-1. Haplotype analyses found the families were related, and ANO1 p.Met658Val segregated with moyamoya disease in the family with an LOD score of 3.3. Six additional ANO1 rare variants were identified in moyamoya disease families. The ANO1 rare variants were assessed using patch-clamp recordings, and the majority of variants, including ANO1 p.Met658Val, displayed increased sensitivity to intracellular Ca2+. Patients harboring these gain-of-function ANO1 variants had classic features of MMD, but also had aneurysm, stenosis, and/or occlusion in the posterior circulation. Our studies support that ANO1 gain-of-function pathogenic variants predispose to moyamoya disease and are associated with unique involvement of the posterior circulation.

Published
2023

3. PFMG2025–integrating genomic medicine into the national healthcare system in France

Author

Abadie, Caroline, Abderrahmane, Aldja, Abdous, Ouarda, Abel, Carine, Ackermann, Oanez, Acquaviva, Cécile, Ader, Flavie, Adham, Salma, Adjaoud, Dalila, Afenjar, Alexandra, Aladjidi, Nathalie, Alary, Anne-Sophie, Albarel, Frédérique, Albert, Sabrina, Allard, Lise, Allix, Ingrid, Alunni, Violaine, Amado, Inês F., Amouroux, Cyril, André, Nicolas, Angelini, Chloé, Anheim, Mathieu, Sanfelliz, Ignacio Antolin, Aparicio, Thomas, Arfeuille, Chloé, Arlet, Jean-Benoît, Arnaud, Lionel, Arnaud, Pauline, Arnold, Guilhem, Attie-Bitach, Tania, Aubert-Mucca, Marion, Audo, Isabelle, Audrezet, Marie-Pierre, Auroux, Maxime, Auzanneau, Céline, Ayrignac, Xavier, Ba, Ibrahima, Bachelot, Anne, Bacq, Delphine, Bacrot, Séverine, Bader-Meunier, Brigitte, Baer, Sarah, Baert-Desurmont, Stéphanie, Bal-Theoleyre, Laurence, Balogoun, Ralyath, Baltzinger, Philippe, Banneau, Guillaume, Bar, Claire, Barbet, Audrey, Barcia, Giulia, Barjhoux, Laure, Barlier, Anne, Barlogis, Vincent, Barritault, Marc, Barth, Magalie, Barthod-Malat, Aurore, Baudouin-Cornu, Peggy, Baujat, Geneviève, Baurand, Amandine, Bay, Jacques-Olivier, Beau-Faller, Michèle, Beaudoin, Jean-Christophe, Bellance, Rémi, Bellanné-Chantelot, Christine, Bellera, Carine, Belot, Alexandre, Ben Abdeljelil, Raihane, Ben Sghaier, Rihab, Benadiba, Joy, Benard, Stéphanie, Beneteau, Claire, Benistan, Karelle, Benkerdou, Fouzia, Benkirane, Mehdi, Benoist, Jean-François, Benusiglio, Patrick R., Bergès, Camille, Bergougnoux, Anne, Bernadach, Maureen, Bernard, Emilien, Bernard, Valérie, Bernard, Virginie, Beroug, Dounia, Berrard, Aurélie, Bertherat, Jérôme, Berthet, Pascaline, Berthier, Clotilde, Bertholet-Thomas, Aurélia, Bertocchio, Jean-Philippe, Bertucci, François, Besse, Céline, Besse-Pinot, Elsa, Bessis, Didier, Beuvain, Pauline, Bezieau, Stéphane, Bidart, Marie, Bièche, Ivan, Biehler, Margaux, Bienvenu, Thierry, Bilan, Frédéric, Billon, Clarisse, Binquet, Christine, Bismuth, Elise, Bizaoui, Varoona, Blanc, Pierre, Blanché, Hélène, Blay, Jean-Yves, Bloch, Adrien, Bloch, Gilles, Bloch-Zupan, Agnes, Bocquet, Béatrice, Boedec, Morgane, Boileau, Catherine, Boissinot, Maureen, Boland, Anne, Bolze, Pierre-Adrien, Bonadona, Valérie, Bonastre, Julia, Bonello-Palot, Nathalie, Bonnard, Adeline-Alice, Borie, Raphaël, Botsen, Damien, Bouattour, Mohamed, Bouctot, Marion, Bouhours-Nouet, Natacha, Bouligand, Jérôme, Bouras, Ahmed, Bourgeron, Thomas, Bourges, Jean-Louis, Bourrat, Emmanuelle, Boursier, Guilaine, Bousquet, Guilhem, Bousquet, Philippe-Jean, Boussion, Simon, Boutaud, Lucile, Boutin, Julian, Bouvagnet, Patrice, Bouvattier, Claire, Boyault, Sandrine, Brac de la Perriere, Aude, Brahmi, Mehdi, Brard, Valentine, Brasseur, Mathilde, Brazzalotto, Nadège, Brémond-Gignac, Dominique, Briand-Suleau, Audrey, Briet, Claire, Bringuier, Pierre-Paul, Bris, Céline, Brischoux-Boucher, Elise, Brochard, Karine, Broly, Martin, Brosseau, Laura, Bruel, Ange-Line, Brunelle, Perrine, Bubien, Virginie, Buecher, Bruno, Buffet, Alexandre, Buisson, Adrien, Burglen, Lydie, Des Roziers, Cyril Burin, Burnichon, Nelly, Busa, Tiffany, Cabart, Mathilde, Cabet, Sara, Caille-Benigni, Charlotte, Caillot, Claire, Calvin, Christophe, Cambon-Thomsen, Anne, Cances, Claude, Cantan, Alexandre, Carausu, Liana, Carbasse, Aurélia, Carbonneil, Cédric, Cariou, Bertrand, Caron, Olivier, Carras, Sylvain, Cartalat, Stéphanie, Cassinari, Kévin, Castelle, Martin, Castéra, Laurent, Castinetti, Frédéric, Catteau, Julie, Caumes, Roseline, Caux, Aurélien, Cavaillé, Mathias, Cavé, Hélène, Caye-Eude, Aurélie, Cazeneuve, Cécile, Celse, Tristan, Celton, Noémie, Cenni, Camille, Cévost, Jasmin, Chaabna, Rania, Chabrol, Brigitte, Challet, Ilyas, Chalumeau, Clélia, Chambon, Pascal, Chansavang, Albain, Chanson, Jean-Baptiste, Chapelant, Sébastien, Charbit-Henrion, Fabienne, Charles, Perrine, Charrière, Sybil, Charron, Philippe, Chassaing, Nicolas, Chatron, Nicolas, Chaumette, Boris, Chaussain, Catherine, Chaussenot, Annabelle, Cheillan, David, Chenavier, Olivier, Chesneau, Bertrand, Chevalier, Louise-Marie, Chomienne, Christine, Chougnet, Cécile, Christin-Maitre, Sophie, Chuet, Marine, Clappier, Emmanuelle, Clet, Johanna, Cloteau, Mélanie, Cluzeau, Thomas, Cogan, Guillaume, Cogné, Benjamin, Cohen, Alicia, Cohen, Camille, Cohen-Haguenauer, Odile, Cohen-Solal, Martine, Colas, Chrystelle, Colin, Estelle, Collet, Corinne, Collin-Chavagnac, Delphine, Colliou, Eloïse, Collonge-Rame, Marie-Agnès, Colmard, Maxime, Coopman, Stéphanie, Coppin, Lucie, Coquan, Elodie, Cormier-Daire, Valérie, Corradini, Nadège, Corsini, Carole, Cossée, Mireille, Coste, Thibault, Cotteret, Sophie, Cottet, Rachel, Coubes, Christine, Coulet, Florence, Couque, Nathalie, Couratier, Philippe, Courbebaisse, Marie, Courbette, Olivier, Courdier, Cécile, Coursimault, Juliette, Courtin, Thomas, Courtois, Lucien, Coury, Fabienne, Coutos-Thévenot, Laure, Coutton, Charles, Creveaux, Isabelle, Crickx, Etienne, Crivelli, Louise, Cuggia, Marc, Cuisset, Laurence, Curcio, Hubert, Curie, Aurore, Cusin, Veronica, Da Costa, Noémie, Da Cruz, Lionel, Dahlen, Eric, Dardenne, Antoine, Dauriat, Benjamin, Dausse, Nell, De Becdelièvre, Alix, De Fraipont, Florence, De La Cruz, Elisa, De la Motte Rouge, Thibault, De Montgolfier, Sandrine, De Pauw, Antoine, De Reyniès, Aurélien, De Sainte Agathe, Jean-Madeleine, De Tayrac, Marie, Defachelles, Anne-Sophie, Degaud, Michaël, Deiller, Caroline, Delabesse, Eric, Delachaux, Leslie, Delahaye-Duriez, Andrée, Deleuze, Jean-François, Delhomelle, Hélène, Delmas, Christelle, Delnatte, Capucine, Delorme, Catherine, Delorme, Richard, Demeer, Bénédicte, Demilly, Caroline, Denizeau, Philippe, Denjoy, Isabelle, Denommé-Pichon, Anne-Sophie, Depienne, Christel, Derive, Nicolas, Dervillé, Flora, Portes, Vincent Des, Desguerre, Isabelle, Desnous, Béatrice, Desseignes, Camille, Devillard, Françoise, Deville, Manjula, Dewulf-Pasz, Nelly, Dhaenens, Claire-Marie, Dietrich, Klaus, Dieux, Anne, Diop, Mody, Disse, Emmanuel, Djaber, Samir, Cao, Christine Do, Dollfus, Hélène, Domenach, Louis, Donadieu, Jean, Donadille, Bruno, Dougé, Aurore, Dreyfus, Hélène, Drunat, Séverine, Dubois-Laforgue, Danièle, Dubourg, Christele, Dubucs, Charlotte, Dubus, Jean-Christophe, Duchmann, Matthieu, Ducray, François, Ducrotverdun, Marion, Duffaud, Florence, Duffourd, Yannis, Dufour, William, Duhil de Bénazé, Gwénaelle, Dulac, Yves, Dunand, Olivier, Dunoyer de Segonzac, Denis, Dupain, Célia, Duployez, Nicolas, Dupré, Anaïs, Dupré, Aurélien, Dupuis-Girod, Sophie, Duquet, Romain, Durand, Alice, Durand, Benjamin, Durand-Zaleski, Isabelle, Durando, Xavier, Durr, Alexandra, Eberst, Lauriane, Edery, Patrick, Egloff, Matthieu, El Chehadeh, Salima, El Khattabi, Laïla, Engel, Camille, Entresangle, Mathilde, Espérou, Hélène, Esselin, Florence, Etancelin, Pascaline, Evrevin, Clémence, Ewenczyk, Claire, Eychene, Alain, Eychenne, Thomas, Ezaru, Andra, Fabry, Vincent, Faivre, Laurence, Faoucher, Marie, Faure, Clémentine, Fauré, Julien, Fauret-Amsellem, Anne-Laure, Feigerlova, Eva, Feillet, François, Fenwarth, Laurène, Férec, Claude, Fergelot, Patricia, Ferrari, Anthony, Ferraro-Peyret, Carole, Feugeas, Jean-Paul, Fieschi, Claire, Fievet, Alice, Fila, Marc, Fillatre, Rémi, Filser, Mathilde, Fin, Bertrand, Fiore, Mathieu, Firmin, Nelly, Flandrin-Gresta, Pascale, Flechon, Aude, Fournier, Benjamin, Fragny, Cécile, Francois-Heude, Marie-Céline, Francou, Bruno, Frébourg, Thierry, Fressart, Véronique, Frétigny, Mathilde, Funalot, Benoit, Fusaro, Mathieu, Gaignard, Pauline, Gandjbakhch, Estelle, Ganne, Benjamin, Garde, Aurore, Gatinois, Vincent, Gaucher, Céline, Gaudillat, Léa, Gaulard, Philippe, Gauthier, Lucas, Gay-Bellile, Mathilde, Geneste, Damien, Geneviève, David, Genin, Emmanuelle, Genoux, Sandrine, Geoerger, Birgit, Geoffroy, Véronique, Georget, Mathieu, Gérard, Bénédicte, Gertych, Witold, Halem, Souad Gherbi, Ghorab, Karima, Gille, Romane, Gillet, Charlène, Gillibert-Yvert, Marion, Gilly, Olivier, Gimenez-Roqueplo, Anne-Paule, Giraud, Sophie, Girerd, Barbara, Girodon, François, Glazunova, Olga, Gobert, Delphine, Goizet, Cyril, Gokce-Samar, Zeynep, Golmard, Lisa, Gomez-Roca, Carlos, Gonzales, Emmanuel, Gorce, Magali, Gorenstein, Marie-Clémence, Gorrichon, Kévin, Gottrand, Frédéric, Gouas, Laetitia, Gourdon, Stéphanie, Gourdy, Pierre, Gouronc, Aurélie, Goursaud, Claire, Gousse, Gaëlle, Gouy, Evan, Goze-Martineau, Odile, Gozlan, Diane, Grabli, David, Gras, Margaux, Grelet, Maude, Gressin, Laetitia, Grivel, Nathalie, Grotto, Sarah, Grouthier, Virginie, Grunenwald, Solange, Grunewald, Olivier, Gueguen, Paul, Guérin, Cécile, Guerrot, Anne-Marie, Guey, Stéphanie, Guffon, Nathalie, Guichet, Agnès, Guièze, Romain, Guillaud-Bataille, Marine, Guillemin, Francis, Guillerm, Erell, Guillermin, Yann, Guillet-Pichon, Virginie, Guillou, Isabelle, Guimbaud, Rosine, Guimier, Anne, Guissart, Claire, Guittet, Eric, Guy, Nathalie, Hadchouel, Alice, Abdallah, Hamza Hadj, Hadj-Rabia, Smail, Hadjadj, Samy, Hage-Sleiman, Mehdi, Haioun, Corinne, Halawi, Sara, Hamza, Abderaouf, Hanau, Perrine, Hanna, Nadine, Harbuz, Radu, Hardy, Gaëlle, Hauspie, Carine, Hayette, Sandrine, Heard, Jean-Michel, Heiblig, Maël, Heide, Solveig, Heidet, Laurence, Henry, Marcia, Hentgen, Véronique, Héron, Bénédicte, Héron, Delphine, Hervé, Dominique, Herzig, Anthony, Hirsch, Pierre, Hommais, Antoine, Honnorat, Jérôme, Horta, Edgar, Houdayer, Claude, Houillier, Pascal, Huet, Sarah, Hugot, Jean-Pierre, Huguenin, Yoann, Humbert, Marc, Humbert-Asensio, Marie-Laure, Huot, Laure, Ifrah, Norbert, Illouz, Frédéric, Imbard, Apolline, Imbert-Bouteille, Marion, Isambert, Nicolas, Isidor, Bertrand, Italiano, Antoine, Itzykson, Raphaël, Jaillard, Sylvie, Jamilloux, Yvan, Janin, Alexandre, Januel, Louis, Javelot-Jacquelin, Cécile, Jeanne, Médéric, Jedraszak, Guillaume, Jéru, Isabelle, Jeunemaitre, Xavier, Jeziorski, Eric, Jobic, Florence, Joly, Philippe, Jonard, Laurence, Jondeau, Guillaume, Jones, Natalie, Jouannic, Jean-Marie, Jouinot, Anne, Jouk, Pierre-Simon, Jourdy, Yohann, Jousselin, Kévin, Jouvenceau, Anne, Jubert, Charlotte, Julia, Sophie, Jurquet, Anne-laure, Juven, Aurélien, Kamal, Maud, Kantapareddy, Pascal, Kaphan, Elsa, Karayan-Tapon, Lucie, Kasper, Edwige, Kerbellec, Lara, Keren, Boris, Khalifa, Emmanuel, Van Kien, Philippe Khau, Kheddouci, Sihem, Kientz, Caroline, Kim, Rathana, Knapke, Antjie, Koenig, Michel, isabelle Kone, Konyukh, Marina, Kormann, Raphaël, Kossorotoff, Manoelle, Kuentz, Paul, Kyndt, Florence, L'Haridon, Anaïs, Labrune, Philippe, Lackmy, Marilyn, Lacombe, Didier, Lacroix, Ludovic, Laffargue, Fanny, Lahlou, Ghizlene, Laizet, Yec'han, Lambert, Laetitia, Lamoril, Jérôme, Lamouroux, Audrey, Landais, Emilie, Landman, Samuel, Landry, Elise, Lapillonne, Hélène, Lapointe, Anne-Sophie, Larcher, Lise, Lardeux, Pierre, Largeaud, Laetitia, Larger, Etienne, Larrouquere, Louis, Lasolle, Hélène, Lasseaux, Eulalie, Latypova, Xenia, Laurens, Tiphany, Laurent, Camille, Laurent-Puig, Pierre, Lautrette, Géraldine, Lauvray, Thomas, Lavallart, Benoît, Lavenu-Bombled, Cécile, Laverdure, Noémie, Le Bris, Yannick, Le Chalony, Catherine, Le Du, Nathalie, Le Folgoc, Gaëlle, Le Gac, Gerald, Le Gall, Jessica, Le Guillou, Edouard, Le Guillou, Xavier, Le Guyader, Gwenaël, Le Ray, Maryannick, Le Saux, Olivia, Le Tourneau, Christophe, Lebecque, Benjamin, Lebellec, Loïc, Lebigot, Elise, Leblond, Pierre, Leboulanger, Nicolas, Lebras, Laure, Lebre, Anne-Sophie, Lebreton, Louis, Lecoquierre, François, Lefebvre, Mathilde, Legendre, Marine, Leglise, Camille, Legrand, Clémentine, Lehalle, Daphné, Lejeune, Catherine, Lemaitre, Christine, Leman, Raphaël, Lepage, Mathis, Lermine, Alban, Leroy, Karen, Lesca, Gaëtan, Lesieur-Sebellin, Marion, Letexier, Mélanie, Lethimonnier, Franck, Levaillant, Lucie, Levy, Jonathan, Levy, Yves, Lévy, Pascale, Lhermitte, Ludovic, Linglart, Agnès, Lionnet, Clément, Livon, Doriane, Lode, Laurence, Lodin, Magalie, Lopez, Jonathan, Lopez, Maureen, Lortholary, Alain, Louha, Malek, Louvrier, Camille, Ludwig, Thomas E., Luvet, Auriane, Lyonnet, Stanislas, Makowski, Caroline, Malan, Valérie, Mallaret, Martial, Mallet, Delphine, Mallet, Stéphanie, Malphettes, Marion, Manaud, Nathalie, Mancini, Pierre, Manfredi, Sylvain, Manouvrier, Sylvie, Mansard, Luke, Mansard, Sandrine, Mansour-Hendili, Lamisse, Mansuy, Ludovic, Maquet, Julien, Marçais, Ambroise, Marceau-Renaut, Alice, Marec-Berard, Perrine, Marelli, Cécilia, Marenne, Gaëlle, Marey, Isabelle, Margier, Jennifer, Margot, Henri, Marie, Guillaume, Marin, Victor, Marisa, Laetitia, Marlin, Sandrine, Marquant, Emeline, Marquet, Valentine, Marsili, Luisa, Martin, Amaury, Martinerie, Laetitia, Maruani, Anna, Marzin, Pauline, Massard, Christophe, Masson, Emmanuelle, Mathieu, Flavie, Mathieu, Marion, Mathoulin-Pelissier, Simone, Matthieu, Flore, Mauras, Mathilde, Maureille, Aurélien, Mazel, Benoit, Mazeres, Mary, Leer, Anne Mc, Melki, Isabelle, Menassa, Rita, Méneret, Aurélie, Menjard, Julie, Mercier, Anne, Merieau, Elodie, Merlin, Marie-Sophie, Merlio, Jean-Philippe, Meslier, Cécile, Mesnard, Laurent, Mestre-Godin, Sandrine, Metay, Corinne, Meunier, Sandrine, Meyer, Pierre, Michaud, Vincent, Michel-Calemard, Laurence, Mignot, Cyril, Miguet, Marguerite, Millat, Gilles, Mirault, Tristan, Miron de l'Espinay, Albane, Molac, Clémence, Molin, Arnaud, Mondet, Julie, Monin, Faustine, Monin, Pauline, Monneur, Audrey, Monnot, Sophie, Montani, David, Morel, Elodie, Morel, Godelieve, Morel, Valérie, Moretta, Jessica, Morice-Picard, Fanny, Morillon, Lucie, Morin, Carole, Morin-Meschin, Marie-Emmanuelle, Morlat, Philippe, Moshous, Despina, Mouret-Fourme, Emmanuelle, Moussy, Alice, Moutton, Sébastien, Mouzat, Kévin, Muletier, Romane, Muller, Jean, Muller, Marie, Nadaj-Pakleza, Aleksandra, Nambot, Sophie, Nathan, Nadia, Nava, Caroline, Nectoux, Juliette, Netter, Jeanne, Neumann, Florent, Neveu, Julien, Nevière, Zoé, Nguyen, Laetitia, Niclass, Tanguy, Nicolas, Gaël, Nicolas, Laury, Ningarhari, Massih, Nogues, Catherine, Novello, Cécile, Nowak, Frédérique, Odent, Sylvie, Odou, Marie-Françoise, Olaso, Robert, Otmani, Sarah, Ovaert, Caroline, Pacot, Laurence, Pages, Mélanie, Paillard, Catherine, Palmyre, Aurélien, Panagiotakaki, Eleni, Pannard, Myriam, Paoletti, Anne, Papadopoulou, Maria T., Papathanasiou, Matthildi, Paquis, Véronique, Parfait, Béatrice, Paris, Camille, Paris, Clara, Paris, Françoise, Pasmant, Eric, Pasquet, Marlène, Passet, Marie, Pastoret, Cédric, Patat, Olivier, Patay, Léa, Paul, Antoine, Pebrel-Richard, Céline, Peduto, Cristina, Peffault de Latour, Regis, Pegat, Antoine, Pelletier, Annick, Pelletier, Valérie, Pellisson, Fanny, Pennamen, Perrine, Pereira, Victor, Pernin-Grandjean, Julie, Péron, Julien, Perrier, Alexandre, Perrier, Lionel, Perrin, Laurence, Perthus, Isabelle, Petit, Arnaud, Petit, Audrey, Petit, Florence, Petit, François, Petrov, Yuliya, Peyre, Hugo, Philippe, Christophe, Piard, Juliette, Pierre-Noël, Elise, Pierron, Gaëlle, Pimouguet, Clément, Pingault, Véronique, Pinson, Stéphane, Pion, Emmanuelle, Plaisancié, Julie, Planes, Marc, Planté-Bordeneuve, Pauline, Plas, William, Plutino, Morgane, Poignie, Ludivine, Poinsignon, Vianney, Poirée, Marilyne, Pons, Nicolas, Pontier, Bénédicte, Porquet-Bordes, Valérie, Porteret, Camille, Potier, Delphine, Potier, Louis, Pouessel, Damien, Poujade, Laura, Preau, Marie, Preudhomme, Claude, Prieur, Fabienne, Probst, Vincent, Procaccio, Vincent, Prot-Bertoye, Caroline, Prunier, Delphine, Puechberty, Jacques, Pujalte, Mathilde, Qebibo, Leila, Quemener-Redon, Sylvia, Quérée, Isabelle, Quijano-Roy, Susana, Quirin, Nicolas, Racine, Caroline, Raimbault, Sandra, Raimbourg, Judith, Rajaoba, Marine, Rambaud, Thomas, Ramirez, Carole, Ramond, Francis, Ranguin, Kara, Rausell, Antonio, Ravel, Jean-Marie, Ravelli, Claudia, Raverot, Gerald, Ray-Coquard, Isabelle, Raynal, Caroline, Réant, Patricia, Rebours, Vinciane, Redon, Richard, Réguerre, Yves, Reix, Philippe, Renard, Cécile, Renaud, Mathilde, Rendu, John, Renoux, Céline, Rey, Romain, Reynaud, Rachel, Rhinan, Lucie, Riant, Florence, Riccardi, Florence, Richard, Pascale, Ricou, Agathe, Rigalleau, Vincent, Rio, Marlène, Rivière, Axelle, Robelin, Patrick, Robert, Marion, Robert, Thomas, Rohmer, Barbara, Romanet, Pauline, Romoli, Arnaud, Rondeau, Sophie, Rooryck, Caroline, Roquelaure, Bertrand, Rosain, Jérémie, Rossi, Massimiliano, Rossignol, Sylvie, Rothenbuhler, Anya, Rouel, Nadège, Rouillon, Marine, Roux, Anne-Francoise, Roux-Buisson, Nathalie, Rouzier, Cécile, Roze, Emmanuel, Ruaud, Lyse, Ruault, Valentin, Ruysschaert, Claire, Saada, Esma, Saadi - Ait El Mkadem, Samira, Saandi, Thoueiba, Sabour, Niki, Sacconi, Sabrina, Saffroy, Raphaël, Safraou, Hana, Saillour, Virginie, Pierre, Aude Saint, Saint-Martin, Cécile, Saintigny, Pierre, Salaun, Gaëlle, Salgado, David, Salle, Laurence, Samuel, Didier, Sanlaville, Damien, Sapey-Triomphe, Laure, Sarnacki, Sabine, Sarrazin, Elisabeth, Sarret, Catherine, Satre, Véronique, Saugier-Veber, Pascale, Saultier, Paul, Saumet, Laure, Schaefer, Elise, Scheyer, Nicolas, Schiff, Isabelle, Schleiermacher, Gudrun, Schleinitz, Nicolas, Schluth-Bolard, Caroline, Schneider, Anouck, Schwartz, Bertrand, Sebaoun, Jean-Marc, Serey-Gaut, Margaux, Serrier, Hassan, Servais, Aude, Serveaux-Dancer, Marine, Sevenet, Nicolas, Seyve, Antoine, Sibony-Cohen, Alicia, Sicre de Fontbrune, Flore, Sigaudy, Sabine, Sigaux, François, Simaga, Fatoumata, Simmet, Victor, Simon, Pauline, Simon, Sophie, Sirveaux, François, Smol, Thomas, Solé, Guilhem, Soler, Gwendoline, Solignac, Pauline, Soriani, Marie-Hélène, Soubeyran, Isabelle, Soulier, Jean, Spelle, Laurent, Sperelakis-Beedham, Brian, Spinazzi, Marco, Spodenkiewicz, Marta, Spraul, Anne, Squiban, Barbara, Srikaran, Arunya, Steffann, Julie, Stetco, Anamaria, Stoeva, Radka, Stojkovic, Tanya, Stoppa-Lyonnet, Dominique, Suarez, Felipe, Sujobert, Pierre, Svahn, Juliette, Ta, Minh-Chau, Tabet, Anne-Claude, Tachon, Gaëlle, Tallegas, Matthias, Tallet, Anne, Tambourin, Pierre-Edmond, Tandonnet, Julie, Tardy, Véronique, Tavernier, Emmanuelle, Tchernitchko, Dimitri, Teillon-Berranger, Marie-Hélène, Tenenbaum, Julie, Teoli, Jordan, Tessarech, Marine, Tessoulin, Benoit, Tharreau, Mylène, Thauvin-Robinet, Christel, Theou-Anton, Nathalie, Thevenon, Julien, Thomas, Anne, Thomas, Laure, Thomas, Quentin, Thomas-Teinturier, Cécile, Tieulie, Nathalie, Tinat, Julie, Tlemsani, Camille, Tondeur, Sylvie, Tosca, Lucie, Tosi, Diego, Tougeron, David, Touraine, Phlippe, Tournier-Lasserve, Elisabeth, Toutain, Annick, Mau-Them, Frédéric Tran, Tranchant, Christine, Trédan, Olivier, Trimouille, Aurélien, Trochu, Jean-Noël, Tronel, Vincent, Trouba, Cécile, Truchetet, Marie-Elise, Truffaux, Nathalène, Tsalamlal, Amel, Turlotte, Edouard, Turon, Violette, Tusseau, Maud, Uhrhammer, Nancy, Vaché, Christel, Valence, Stéphanie, Valentin, Thibaud, Valero, René, Valleix, Sophie, Vallet, Marion, Vanacker, Hélène, Vande-Perre, Pierre, Vandenbrouck, Yves, Vanlerberghe, Clémence, Vargas-Poussou, Rosa, Vatier, Camille, Vauchel, Vincent, Vaur, Dominique, Velo-Suarez, Lourdes, Venat, Laurence, Vera, Gabriella, Verebi, Camille, Verley, Célia, Verlingue, Loïc, Verny, Christophe, Veronese, Lauren, Verotte, Nelly, Verret, Benjamin, Vial, Yoann, Vialard, Francois, Viari, Alain, Vidailhet, Marie, Vidaud, Dominique, Vidaud, Michel, Vignes, Stéphane, Vigouroux, Clothilde, Villard, Laurent, Villeneuve, Laurent, Villié, Patricia, Villy, Marie-Charlotte, Vinauger, Lara, Vinceneux, Armelle, Vincenot, Anne, Vinciguerra, Christine, Vitobello, Antonio, Vourc'h, Patrick, Vozy, Aurore, Vuillaume-Winter, Marie-Laure, Vuillaumier-Barrot, Sandrine, Wahbi, Karim, Wallet, Cédrick, Walter, Thomas, Walther-Louvier, Ulrike, Watson, Sarah, Waymel, Anne-Christine, Weinhard, Sara, Wicker, Camille, Willems, Marjolaine, Wourms, Justine, Wyrebski, Antoine, Yauy, Kévin, Zaidan, Mohamad, Zaloszyc, Ariane, Zattara, Hélène, Zawadzki, Christophe, and Ziegler, Alban

Published
2025
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5. Improving methodology of radiosurgery for posterior fossa cavernomas: higher volume, lower dose.

Author

Nataf, François, Scher, Nathaniel, Bollet, Marc, Mulier, Guillaume, Birladeanu, Andrei, Sopanda, Lucian, Lambert, Jérôme, Bouilhol, Gauthier, Guey, Stéphanie, Adle-Biassette, Homa, Bernat, Anne-Laure, Abbritti, Rosaria, Passeri, Thibault, Mandonnet, Emmanuel, and Froelich, Sébastien

Subjects
STEREOTACTIC radiosurgery, INTEGRAL domains, CLINICAL deterioration, RADIOSURGERY, RADIATION doses
Abstract

Cavernous malformations (CM) of the brain are vascular abnormalities that carry a risk of bleeding, posing significant neurological and life-threatening challenges, particularly in posterior fossa. The efficacy of radiosurgery for cavernomas still remains a matter of debate, largely due to technical and statistical limitations. In this study, we present a series of posterior fossa cavernomas treated using CyberKnife radiosurgery, employing an innovative approach that integrates both technical and statistical advancements. Patients and methods: We conducted a prospective series involving 35 posterior fossa cavernomas in 33 patients treated with low-dose radiosurgery protocols (12 Gy in a single fraction or 18 Gy in 3 fractions). Compared to previously published series, our approach targeted a larger treatment volume, encompassing the entire hemosiderin ring surrounding the cavernoma. Radiosurgery was indicated for cases of hemorrhage or progressive neurological deficits in anatomically challenging, nonsurgical areas. The statistical analysis was designed to address the unknown onset time of cavernoma prior to radiosurgery, enabling a more accurate calculation of the hemorrhage incidence rate before treatment. Follow-up evaluations, including clinical assessments and MRI, were conducted at 3-6-9-12-18-24 months and subsequently on an annual basis. Results: With a mean follow-up duration of 26 months, exceeding the previously described latency period, and a median [IQR] follow-up of 13 months [8.7-30.4] which represents approximately half the latency period, only one patient experienced a recurrence of hemorrhage, occurring 20 months post-treatment and remaining asymptomatic. No patients exhibited radio-induced parenchymal changes or clinical deterioration following radiosurgery. Conclusions: These preliminary results support the strategy of increasing the target volume while reducing the radiation dose for cavernous malformations. We further recommend incorporating sensitivity analyses to evaluate the robustness of results, particularly in the context of uncertainties surrounding the time of onset of cavernomas. [ABSTRACT FROM AUTHOR]

Published
2025
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6. Disease Severity Staging System for NOTCH3-Associated Small Vessel Disease, Including CADASIL.

Author

Gravesteijn, Gido, Rutten, Julie W., Cerfontaine, Minne N., Hack, Remco J., Liao, Yi-Chu, Jolly, Amy A., Guey, Stéphanie, Hsu, Shao-Lun, Park, Jae-young, Yuan, Yun, Kopczak, Anna, Rifino, Nicola, Neilson, Sam J., Poggesi, Anna, Shourav, Md Manjurul Islam, Saito, Satoshi, Ishiyama, Hiroyuki, Domínguez Mayoral, Ana, Nogueira, Renata, and Muiño, Elena

Published
2025
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10. The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy

Author

Pinard, Amélie, Guey, Stéphanie, Guo, Dongchuan, Cecchi, Alana C., Kharas, Natasha, Wallace, Stephanie, Regalado, Ellen S., Hostetler, Ellen M., Sharrief, Anjail Z., Bergametti, Françoise, Kossorotoff, Manoelle, Hervé, Dominique, Kraemer, Markus, Bamshad, Michael J., Nickerson, Deborah A., Smith, Edward R., Tournier-Lasserve, Elisabeth, and Milewicz, Dianna M.

Published
2020
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11. Spinal Anterior Dural Dissection: Moving From Differential to Unifying Diagnosis

Author

Knafo, Steven, primary, Herbrecht, Anne, additional, Cauquil, Cécile, additional, Sarov, Mariana, additional, Not, Adeline, additional, Ancelet, Claire, additional, Nasser, Ghaida, additional, Benhamou, Dan, additional, Oillic, Pierre-Antoine, additional, Guey, Stéphanie, additional, Lenglet, Timothée, additional, Parker, Fabrice, additional, and Aghakhani, Nozar, additional

Published
2024
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16. Additional file 1 of Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy

Author

Guey, Stéphanie, Hervé, Dominique, Kossorotoff, Manoëlle, Ha, Guillaume, Aloui, Chaker, Bergametti, Françoise, Arnould, Minh, Guenou, Hind, Hadjadj, Jessica, Dubois Teklali, Fanny, Riant, Florence, Balligand, Jean-Luc, Uzan, Georges, Villoutreix, Bruno O., and Tournier-Lasserve, Elisabeth

Abstract

Additional file 1: Genealogical trees of to the 6 consanguineous MMA probands.

Published
2023
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17. Additional file 5 of Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy

Author

Guey, Stéphanie, Hervé, Dominique, Kossorotoff, Manoëlle, Ha, Guillaume, Aloui, Chaker, Bergametti, Françoise, Arnould, Minh, Guenou, Hind, Hadjadj, Jessica, Dubois Teklali, Fanny, Riant, Florence, Balligand, Jean-Luc, Uzan, Georges, Villoutreix, Bruno O., and Tournier-Lasserve, Elisabeth

Abstract

Additional file 5: Quantitative PCR results comparing relative expression of NOS3 mRNA in cells transfected with the wild type and with the M035 mutated cDNA.

Published
2023
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18. Additional file 2 of Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy

Author

Guey, Stéphanie, Hervé, Dominique, Kossorotoff, Manoëlle, Ha, Guillaume, Aloui, Chaker, Bergametti, Françoise, Arnould, Minh, Guenou, Hind, Hadjadj, Jessica, Dubois Teklali, Fanny, Riant, Florence, Balligand, Jean-Luc, Uzan, Georges, Villoutreix, Bruno O., and Tournier-Lasserve, Elisabeth

Abstract

Additional file 2: 3D structural analysis of the functional consequences of the eNOS p.C648R variant and sGC alpha1 subunit p.R593H variant.

Published
2023
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19. Additional file 3 of Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy

Author

Guey, Stéphanie, Hervé, Dominique, Kossorotoff, Manoëlle, Ha, Guillaume, Aloui, Chaker, Bergametti, Françoise, Arnould, Minh, Guenou, Hind, Hadjadj, Jessica, Dubois Teklali, Fanny, Riant, Florence, Balligand, Jean-Luc, Uzan, Georges, Villoutreix, Bruno O., and Tournier-Lasserve, Elisabeth

Abstract

Additional file 3: Candidate homozygous variants identified in the 6 consanguineous probands.

Published
2023
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20. Additional file 4 of Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy

Author

Guey, Stéphanie, Hervé, Dominique, Kossorotoff, Manoëlle, Ha, Guillaume, Aloui, Chaker, Bergametti, Françoise, Arnould, Minh, Guenou, Hind, Hadjadj, Jessica, Dubois Teklali, Fanny, Riant, Florence, Balligand, Jean-Luc, Uzan, Georges, Villoutreix, Bruno O., and Tournier-Lasserve, Elisabeth

Abstract

Additional file 4: NOS3 homozygous splice variant in M084 and NOS3 homozygous missense variant in M035.

Published
2023
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21. Phenotypic variability in 446 CADASIL patients: Impact of NOTCH3 gene mutation location in addition to the effects of age, sex and vascular risk factors

Author

Dupé, Charlotte, primary, Guey, Stéphanie, additional, Biard, Lucie, additional, Dieng, Sokhna, additional, Lebenberg, Jessica, additional, Grosset, Lina, additional, Alili, Nassira, additional, Hervé, Dominique, additional, Tournier-Lasserve, Elisabeth, additional, Jouvent, Eric, additional, Chevret, Sylvie, additional, and Chabriat, Hugues, additional

Published
2022
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22. Elderly CADASIL patients with intact neurological status

Author

Zhang, Ruiting, primary, Ouin, Elisa, additional, Grosset, Lina, additional, Ighilkrim, Karine, additional, Lebenberg, Jessica, additional, Guey, Stéphanie, additional, François, Véronique, additional, Tournier-Lasserve, Elisabeth, additional, Jouvent, Eric, additional, and Chabriat, Hugues, additional

Published
2022
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23. Cerebrospinal Fluid Profile of Tau, Phosphorylated Tau, Aβ42, and Aβ40 in Probable Cerebral Amyloid Angiopathy

Author

Grangeon, Lou, primary, Paquet, Claire, additional, Guey, Stéphanie, additional, Zarea, Aline, additional, Martinaud, Olivier, additional, Rotharmel, Maud, additional, Maltête, David, additional, Quillard-Muraine, Muriel, additional, Nicolas, Gael, additional, Charbonnier, Camille, additional, Chabriat, Hugues, additional, and Wallon, David, additional

Published
2022
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24. sj-pdf-1-jcb-10.1177_0271678X221126280 - Supplemental material for Phenotypic variability in 446 CADASIL patients: Impact of NOTCH3 gene mutation location in addition to the effects of age, sex and vascular risk factors

Author

Dupé, Charlotte, Guey, Stéphanie, Biard, Lucie, Dieng, Sokhna, Lebenberg, Jessica, Grosset, Lina, Alili, Nassira, Hervé, Dominique, Tournier-Lasserve, Elisabeth, Jouvent, Eric, Chevret, Sylvie, and Chabriat, Hugues

Subjects
110320 Radiology and Organ Imaging, FOS: Clinical medicine, FOS: Biological sciences, Medicine, Cell Biology, 110305 Emergency Medicine, 110306 Endocrinology, Biochemistry, 69999 Biological Sciences not elsewhere classified, 110904 Neurology and Neuromuscular Diseases, Neuroscience
Abstract

Supplemental material, sj-pdf-1-jcb-10.1177_0271678X221126280 for Phenotypic variability in 446 CADASIL patients: Impact of NOTCH3 gene mutation location in addition to the effects of age, sex and vascular risk factors by Charlotte Dupé, Stéphanie Guey, Lucie Biard, Sokhna Dieng, Jessica Lebenberg, Lina Grosset, Nassira Alili, Dominique Hervé, Elisabeth Tournier-Lasserve, Eric Jouvent, Sylvie Chevret, Hugues Chabriat in Journal of Cerebral Blood Flow & Metabolism

Published
2022
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29. Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians

Author

Guey, Stéphanie, Kraemer, Markus, Hervé, Dominique, Ludwig, Thomas, Kossorotoff, Manoëlle, Bergametti, Françoise, Schwitalla, Jan Claudius, Choi, Simone, Broseus, Lucile, Callebaut, Isabelle, Genin, Emmanuelle, Tournier-Lasserve, Elisabeth, Consortium, FREX, unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), and Université de Nantes (UN)-Université de Nantes (UN)

Subjects
Male, 0301 basic medicine, Proband, Heterozygote, medicine.medical_specialty, Adolescent, Ubiquitin-Protein Ligases, [SDV]Life Sciences [q-bio], European Continental Ancestry Group, Mutation, Missense, Gastroenterology, White People, Article, Angiopathy, 03 medical and health sciences, 0302 clinical medicine, Mutation Carrier, Internal medicine, Genetics, Humans, Medicine, Missense mutation, Exome, Moyamoya disease, Child, Preschool, Genetics (clinical), Adenosine Triphosphatases, business.industry, adult, Case-control study, Odds ratio, Middle Aged, medicine.disease, 030104 developmental biology, Child, Preschool, Case-Control Studies, Mutation, Female, Missense, Moyamoya Disease, RING Finger Domains, business, 030217 neurology & neurosurgery
Abstract

International audience; Moyamoya angiopathy (MMA) is a cerebral angiopathy affecting the terminal part of internal carotid arteries. Its prevalence is 10 times higher in Japan and Korea than in Europe. In East Asian countries, moyamoya is strongly associated to the R4810K variant in the RNF213 gene that encodes for a protein containing a RING-finger and two AAA+ domains. This variant has never been detected in Caucasian MMA patients, but several rare RNF213 variants have been reported in Caucasian cases. Using a collapsing test based on exome data from 68 European MMA probands and 573 ethnically matched controls, we showed a significant association between rare missense RNF213 variants and MMA in European patients (odds ratio (OR)=2.24, 95% confidence interval (CI)=(1.19-4.11), P=0.01). Variants specific to cases had higher pathogenicity predictive scores (median of 24.2 in cases versus 9.4 in controls, P=0.029) and preferentially clustered in a C-terminal hotspot encompassing the RING-finger domain of RNF213 (P\textless10-3). This association was even stronger when restricting the analysis to childhood-onset and familial cases (OR=4.54, 95% CI=(1.80-11.34), P=1.1 × 10-3). All clinically affected relatives who were genotyped were carriers. However, the need for additional factors to develop MMA is strongly suggested by the fact that only 25% of mutation carrier relatives were clinically affected.

Published
2017
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30. Accidents vasculaires cérébraux et maladies héréditaires des petites artères cérébrales.

Author

Guey, Stéphanie

Abstract

Résumé: Les maladies des petits artères cérébrales (MPAC) sont une cause fréquente d'accidents vasculaires cérébraux (AVC), qu'ils soient ischémiques ou hémorragiques. Une petite proportion des MPAC résulte de pathologies monogéniques. Bien qu'elles soient rares, l'identification de ces formes monogéniques est cruciale, permettant d'offrir une prise en charge adaptée à ces patients et à leurs apparentés. Dans cette revue, les principales situations devant conduire le clinicien à évoquer une forme monogénique de MPAC sont listées, et les principales caractéristiques des différentes MPAC connues à ce jour sont résumées. Cerebral small vessel diseases (cSVD) represent a common cause of stroke, either ischemic or hemorrhagic. Only a small proportion of cSVD results from monogenic conditions. Although they are involved in a minority of patient, the accurate identification by physicians of hereditary forms of cSVD is crucial for the medical care of these patients and their relatives. In this paper, the main situations that must lead physicians to suspect a hereditary cSVD are listed, and the key characteristics of the monogenic cSVD known to date are summarized. [ABSTRACT FROM AUTHOR]

Published
2021
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31. Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome

Author

Aloui, Chaker, primary, Guey, Stéphanie, additional, Pipiras, Eva, additional, Kossorotoff, Manoelle, additional, Guéden, Sophie, additional, Corpechot, Michaelle, additional, Bessou, Pierre, additional, Pedespan, Jean-Michel, additional, Husson, Marie, additional, Hervé, Dominique, additional, Riant, Florence, additional, Kraemer, Markus, additional, Steffann, Julie, additional, Quenez, Olivier, additional, and Tournier-Lasserve, Elisabeth, additional

Published
2020
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34. De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy

Author

Guey, Stéphanie, primary, Grangeon, Lou, additional, Brunelle, Francis, additional, Bergametti, Françoise, additional, Amiel, Jeanne, additional, Lyonnet, Stanislas, additional, Delaforge, Audrey, additional, Arnould, Minh, additional, Desnous, Béatrice, additional, Bellesme, Céline, additional, Hervé, Dominique, additional, Schwitalla, Jan C, additional, Kraemer, Markus, additional, Tournier-Lasserve, Elisabeth, additional, and Kossorotoff, Manoelle, additional

Published
2017
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35. Accident vasculaire cérébral, thromboses et Covid-19.

Author

Aghetti, Agnès, Guillonnet, Antoine, Perronne, Laetitia, Buffon, Frédérique, Reiner, Peggy, and Guey, Stéphanie

Abstract

Résumé: Nous rapportons le cas d'une patiente présentant un accident vasculaire cérébral (AVC) ischémique, secondaire à un thrombus de la carotide interne, sur plaque d'athérome. La taille du thrombus et son association à une embolie pulmonaire sont inhabituels et le seul facteur favorisant potentiel identifié est le contexte de Covid-19, sans signe de gravité de l'infection. La survenue de volumineuses thromboses artérielles au cours de la maladie liée au coronavirus est largement rapportée depuis le début de l'épidémie. Ce phénomène, responsable notamment d'AVC ischémiques sévères, ne survient pas nécessairement chez des patients présentant une forme grave de l'infection, mais semble associé à un moins bon pronostic fonctionnel. We report a case of ischemic stroke characterized by unusual large thrombosis of the internal carotid, origin associated to pulmonary embolism in a patient without any prothrombotic factor except from mild signs of Covid-19. The high incidence of thrombotic phenomens observed among patients with coronavirus during the last months does not seem to systematically occur among patients with severe presentation of the infection, but seems associated to a worst functional prognosis. [ABSTRACT FROM AUTHOR]

Published
2020
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36. Influence of Nucleoshuttling of the ATM Protein in the Healthy Tissues Response to Radiation Therapy: Toward a Molecular Classification of Human Radiosensitivity

Author

Granzotto, Adeline, primary, Benadjaoud, Mohamed Amine, additional, Vogin, Guillaume, additional, Devic, Clément, additional, Ferlazzo, Mélanie L., additional, Bodgi, Larry, additional, Pereira, Sandrine, additional, Sonzogni, Laurène, additional, Forcheron, Fabien, additional, Viau, Muriel, additional, Etaix, Aurélie, additional, Malek, Karim, additional, Mengue-Bindjeme, Laurence, additional, Escoffier, Clémence, additional, Rouvet, Isabelle, additional, Zabot, Marie-Thérèse, additional, Joubert, Aurélie, additional, Vincent, Anne, additional, Venezia, Nicole Dalla, additional, Bourguignon, Michel, additional, Canat, Edme-Philippe, additional, d'Hombres, Anne, additional, Thébaud, Estelle, additional, Orbach, Daniel, additional, Stoppa-Lyonnet, Dominique, additional, Radji, Abderraouf, additional, Doré, Eric, additional, Pointreau, Yoann, additional, Bourgier, Céline, additional, Leblond, Pierre, additional, Defachelles, Anne-Sophie, additional, Lervat, Cyril, additional, Guey, Stéphanie, additional, Feuvret, Loic, additional, Gilsoul, Françoise, additional, Berger, Claire, additional, Moncharmont, Coralie, additional, de Laroche, Guy, additional, Moreau-Claeys, Marie-Virginie, additional, Chavaudra, Nicole, additional, Combemale, Patrick, additional, Biston, Marie-Claude, additional, Malet, Claude, additional, Martel-Lafay, Isabelle, additional, Laude, Cécile, additional, Hau-Desbat, Ngoc-Hanh, additional, Ziouéche, Amira, additional, Tanguy, Ronan, additional, Sunyach, Marie-Pierre, additional, Racadot, Séverine, additional, Pommier, Pascal, additional, Claude, Line, additional, Baleydier, Frédéric, additional, Fleury, Bertrand, additional, de Crevoisier, Renaud, additional, Simon, Jean-Marc, additional, Verrelle, Pierre, additional, Peiffert, Didier, additional, Belkacemi, Yazid, additional, Bourhis, Jean, additional, Lartigau, Eric, additional, Carrie, Christian, additional, De Vathaire, Florent, additional, Eschwege, François, additional, Puisieux, Alain, additional, Lagrange, Jean-Léon, additional, Balosso, Jacques, additional, and Foray, Nicolas, additional

Published
2016
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40. Biallelic variants in NOS3and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy

Author

Guey, Stéphanie, Hervé, Dominique, Kossorotoff, Manoëlle, Ha, Guillaume, Aloui, Chaker, Bergametti, Françoise, Arnould, Minh, Guenou, Hind, Hadjadj, Jessica, Dubois Teklali, Fanny, Riant, Florence, Balligand, Jean-Luc, Uzan, Georges, Villoutreix, Bruno O., and Tournier-Lasserve, Elisabeth

Abstract

Background: Moyamoya angiopathy (MMA) is a rare cerebrovascular condition leading to stroke. Mutations in 15 genes have been identified in Mendelian forms of MMA, but they explain only a very small proportion of cases. Our aim was to investigate the genetic basis of MMA in consanguineous patients having unaffected parents in order to identify genes involved in autosomal recessive MMA. Methods: Exome sequencing (ES) was performed in 6 consecutive consanguineous probands having MMA of unknown etiology. Functional consequences of variants were assessed using western blot and protein 3D structure analyses. Results: Causative homozygous variants of NOS3, the gene encoding the endothelial nitric oxide synthase (eNOS), and GUCY1A3, the gene encoding the alpha1 subunit of the soluble guanylate cyclase (sGC) which is the major nitric oxide (NO) receptor in the vascular wall, were identified in 3 of the 6 probands. One NOS3variant (c.1502 + 1G > C) involves a splice donor site causing a premature termination codon and leads to a total lack of eNOS in endothelial progenitor cells of the affected proband. The other NOS3variant (c.1942 T > C) is a missense variant located into the flavodoxine reductase domain; it is predicted to be destabilizing and shown to be associated with a reduction of eNOS expression. The GUCY1A3missense variant (c.1778G > A), located in the catalytic domain of the sGC, is predicted to disrupt the tridimensional structure of this domain and to lead to a loss of function of the enzyme. Both NOS3mutated probands suffered from an infant-onset and severe MMA associated with posterior cerebral artery steno-occlusive lesions. The GUCY1A3mutated proband presented an adult-onset MMA associated with an early-onset arterial hypertension and a stenosis of the superior mesenteric artery. None of the 3 probands had achalasia. Conclusions: We show for the first time that biallelic loss of function variants in NOS3is responsible for MMA and that mutations in NOS3and GUCY1A3are causing fifty per cent of MMA in consanguineous patients. These data pinpoint the essential role of the NO pathway in MMA pathophysiology.

Published
2023
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41. Can whole-exome sequencing data be used for linkage analysis?

Author

Gazal, Steven, Gosset, Simon, Verdura, Edgard, Bergametti, Françoise, Guey, Stéphanie, Babron, Marie-Claude, and Tournier-Lasserve, Elisabeth

Abstract

Whole-exome sequencing (WES) has become the strategy of choice to identify causal variants in monogenic disorders. However, the list of candidate variants can be quite large, including false positives generated by sequencing errors. To reduce this list of candidate variants to the most relevant ones, a cost-effective strategy would be to focus on regions of linkage identified through linkage analysis conducted with common polymorphisms present in WES data. However, the non-uniform exon coverage of the genome and the lack of knowledge on the power of this strategy have largely precluded its use so far. To compare the performance of linkage analysis conducted with WES and SNP chip data in different situations, we performed simulations on two pedigree structures with, respectively, a dominant and a recessive trait segregating. We found that the performance of the two sets of markers at excluding regions of the genome were very similar, and there was no real gain at using SNP chip data compared with using the common SNPs extracted from WES data. When analyzing the real WES data available for these two pedigrees, we found that the linkage information derived from the WES common polymorphisms was able to reduce by half the list of candidate variants identified by a simple filtering approach. Conducting linkage analysis with WES data available on pedigrees and excluding among the candidate variants those that fall in excluded linkage regions is thus a powerful and cost-effective strategy to reduce the number of false-positive candidate variants.

Published
2016
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42. Main features of COL4A1-COL4A2related cerebral microangiopathies

Author

Guey, Stéphanie and Hervé, Dominique

Abstract

•Glycine mutations in COL4A1/A2 genes increased susceptibility to brain hemorrhage•Type IV collagenopathy causes multi-organ damage in adults, children, or fetuses•Mutations in the COL4A1 3′UTR non-coding region are responsible for PADMAL

Published
2022
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43. Unveiling the Clinical and Imaging Signatures of Intravascular Lymphoma of the Central Nervous System: A Multicentric Cohort Study.

Author

Berthet, Elodie, Guillonnet, Antoine, Houillier, Caroline, Ursu, Renata, Soussain, Carole, Touat, Mehdi, Gueguen, Antoine, Renzis, Benoît, Bigaut, Kevin, Ahle, Guido, Durozard, Pierre, Grosset‐Janin, Deborah, Oberic, Lucie, Bonnet, Antoine, Grandjean, Anne‐Pascale, Moluçon‐Chabrot, Cécile, Hoang‐Xuan, Khê, Chabriat, Hugues, and Guey, Stéphanie

Subjects
*DELAYED diagnosis, *CENTRAL nervous system, *LACTATE dehydrogenase, *SKIN biopsy, *DIAGNOSTIC imaging
Abstract

Objective Methods Results Interpretation Intravascular lymphoma is a rare subtype of B‐cell lymphoma characterized by a clonal proliferation restricted to the lumen of small vessels. Over 50% of patients exhibit central nervous system (CNS) involvement, but diagnosis is often delayed due to the lack of distinctive features. We aimed to identify key phenotypic features for early diagnosis of intravascular lymphoma with CNS involvement through an in‐depth cohort study.We built up a multicenter retrospective cohort of 17 patients recruited in collaboration with the French Expert Network for Oculo‐Cerebral Lymphomas (LOC network), and retrospectively analyzed data from medical records.In this cohort, 15 of 17 (88%) patients developed focal neurological episodes, often fluctuating and/or recurrent, with a sudden onset in 68% of episodes, suggesting a vascular origin. Rapid cognitive deterioration occurred in 15 of 17 (88%) patients, psychiatric manifestations in 8 of 17 (47%), and “B signs” in 14 of 17 (82%). Brain MRI showed polymorphic FLAIR hyperintensities in 14 of 16 (87%) patients, and DWI‐positive lesions in 13 of 16 (81%) of patients, which accumulated over time and had unusual characteristics for ischemic lesions (progressive growth, persistent DWI‐hyperintensity over 1 month, surrounded by a wider FLAIR hyperintensity). Early‐onset inflammatory syndrome, and elevated lactate dehydrogenase (LDH) levels were observed in over 90% of cases. Mild and inconsistent meningitis contrasted with a nearly‐constant hyperproteinorachia. An increased interleukin 10/6 ratio over 0,7 was found in 4 of 7 (57%) patients, and skin biopsy led to a pathological diagnosis in 3 of 6 (50%) patients.The results of this study highlight “red flags” that could help accelerate the diagnosis of intravascular lymphoma involving the CNS. ANN NEUROL 2024 [ABSTRACT FROM AUTHOR]

Published
2024
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44. Cerebral Venous Thrombosis and Nitrous Oxide Intoxication: Report of Two Cases and Review of the Literature.

Author

Doukhi D, Siguret V, Vodovar D, Delrue M, Reiner P, Aghetti A, Guey S, Mazighi M, and Crassard I

Subjects
Humans, Female, Adult, Male, Intracranial Thrombosis chemically induced, Intracranial Thrombosis drug therapy, Venous Thrombosis chemically induced, Venous Thrombosis drug therapy, Anesthetics, Inhalation adverse effects, Middle Aged, Nitrous Oxide adverse effects, Nitrous Oxide administration & dosage
Abstract

Background: Cerebral venous thrombosis (CVT) has various risk factors, including contraception, pregnancy, neoplasia, and thrombophilia. Nitrous oxide (N₂O), historically used as an anesthetic and more recently as a recreational drug, has been associated with neurological complications such as myeloneuropathy and thromboembolic events. Here, we report two cases of CVT associated with N₂O use and provide a review of the literature on this association., Methods: We describe two local cases of CVT associated with N 2 O use and 10 additional cases identified by literature review., Results: Among the 12 patients, seven had co-existing CVT risk factors. Most patients reported chronic N 2 O use. Hyperhomocysteinemia was reported in nine patients. Management included anticoagulation, vitamin supplementation, cessation of N₂O use, and support for addiction or psychiatric care. The outcome was generally favorable, although one local case experienced CVT recurrence following a relapse in N₂O use., Conclusions: These cases highlight an emerging association between CVT and N₂O use. Prompt recognition of this link is critical to recommend cessation of N₂O use, alongside anticoagulation therapy and consideration of vitamin supplementation to prevent complications and recurrence., (© 2025 The Author(s). Brain and Behavior published by Wiley Periodicals LLC.)

Published
2025
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45. ASSESSMENT OF RETINAL ARTERIOLAR TORTUOSITY IN PATIENTS WITH COL4A1 OR COL4A2 MUTATIONS.

Author

Krivosic V, Goupillou P, Buffon-Porcher F, Morel H, Guey S, Tadayoni R, Lasserve ET, Chabriat H, and Gaudric A

Subjects
Humans, Female, Male, Arterioles pathology, Adult, Middle Aged, Tomography, Optical Coherence methods, Young Adult, Retinal Artery pathology, Retinal Artery abnormalities, Retinal Artery diagnostic imaging, Retinal Diseases genetics, Retinal Diseases diagnosis, Fluorescein Angiography methods, Retrospective Studies, Aged, Retinal Vessels pathology, Retinal Vessels diagnostic imaging, DNA Mutational Analysis, Adolescent, Collagen Type IV genetics, Mutation
Abstract

Purpose: Qualitative and quantitative analyses of retinal arteriolar tortuosity in patients with COL4A1 and COL4A2 mutations to identify a tortuosity index (TI) threshold for detecting increased retinal arteriolar tortuosity., Methods: Fifty-two eyes of 28 patients were included. Group 1 included eyes with a normal arteriolar pattern (n = 19, 37%), Group 2 included eyes with moderately increased arteriolar tortuosity (n = 13, 25%), and Group 3 included eyes with typical abnormal arteriolar tortuosity (n = 20, 38%). The TI was measured by calculating the arc-to-chord ratio of arterioles and venules in the posterior pole., Results: The mean arteriolar TI was significantly higher in all groups with a COL4A1/A2 mutation compared with controls: 1.19 ± 0.03, 1.24 ± 0.05, and 1.57 ± 0.23 in Groups 1, 2 and 3, respectively, versus 1.12 ± 0.01 (all P < 0.0001). The TI threshold was 1.13, with a sensitivity of 98.1% and a specificity of 100%. The area under the curve was 0.995., Conclusion: Measuring the arteriolar TI allowed diagnosing increased retinal arteriolar tortuosity in all eyes with a COL4A1 / A2 mutation, whereas the subjective assessment suspected or detected it in only 62% of eyes. In adult patients with cerebral microangiopathy, detecting increased retinal arteriolar tortuosity, even when mild, directs the diagnosis toward COL4A1/A2 -related cerebroretinal angiopathy.

Published
2025
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