Kết quả tìm kiếm - Charles, Perrine

Survival and severity in dominant cerebellar ataxias Bằng Monin, Marie-Lorraine, Tezenas du Montcel, Sophie, Marelli, Cecilia, Cazeneuve, Cecile, Charles, Perrine, Tallaksen, Chantal, Forlani, Sylvie, Stevanin, Giovanni, Brice, Alexis, Durr, Alexandra

lấy văn bản lấy văn bản lấy văn bản

Early Energy Deficit in Huntington Disease: Identification of a Plasma Biomarker Traceable during Disease Progression Bằng Mochel, Fanny, Charles, Perrine, Seguin, François, Barritault, Julie, Coussieu, Christiane, Perin, Laurence, Le Bouc, Yves, Gervais, Christiane, Carcelain, Guislaine, Vassault, Anne, Feingold, Josué, Rabier, Daniel, Durr, Alexandra

lấy văn bản lấy văn bản lấy văn bản

Lower incidence of fracture after IV bisphosphonates in girls with Rett syndrome and severe bone fragility Bằng Lambert, Anne-Sophie, Rothenbuhler, Anya, Charles, Perrine, Brailly-Tabard, Sylvie, Trabado, Séverine, Célestin, Elisabeth, Durand, Emmanuel, Fontaine, Isabelle, Miladi, Lotfi, Wicart, Philippe, Bahi-Buisson, Nadia, Linglart, Agnès

lấy văn bản lấy văn bản lấy văn bản

Haploinsufficiency of Dmxl2, Encoding a Synaptic Protein, Causes Infertility Associated with a Loss of GnRH Neurons in Mouse Bằng Tata, Brooke, Huijbregts, Lukas, Jacquier, Sandrine, Csaba, Zsolt, Genin, Emmanuelle, Meyer, Vincent, Leka, Sofia, Dupont, Joelle, Charles, Perrine, Chevenne, Didier, Carel, Jean-Claude, Léger, Juliane, de Roux, Nicolas

lấy văn bản lấy văn bản lấy văn bản

Effectiveness of Anti-Psychotics and Related Drugs in the Huntington French-Speaking Group Cohort Bằng 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

lấy văn bản lấy văn bản lấy văn bản

SLC25A46 mutations associated with Autosomal Recessive Cerebellar Ataxia in North African families Bằng Hammer, Monia B., Ding, Jinhui, Mochel, Fanny, Eleuch-Fayache, Ghada, Charles, Perrine, Coutelier, Marie, Gibbs, J. Raphael, Arepalli, Sampath K., Chong, Sean B., Hernandez, Dena G., Majounie, Elisa, Clipman, Steven, Bouhlal, Yosr, Nehdi, Houda, Brice, Alexis, Hentati, Faycal, Stevanin, Giovanni, Amouri, Rim, Durr, Alexandra, Singleton, Andrew B.

lấy văn bản lấy văn bản lấy văn bản

COMT Val(158)Met Polymorphism Modulates Huntington's Disease Progression Bằng 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

lấy văn bản lấy văn bản lấy văn bản

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype Bằng Monin, Marie-Lorraine, Mignot, Cyril, De Lonlay, Pascale, Héron, Bénédicte, Masurel, Alice, Mathieu-Dramard, Michèle, Lenaerts, Catherine, Thauvin, Christel, Gérard, Marion, Roze, Emmanuel, Jacquette, Aurélia, Charles, Perrine, de Baracé, Claire, Drouin-Garraud, Valérie, Van Kien, Philippe Khau, Cormier-Daire, Valérie, Mayer, Michèle, Ogier, Hélène, Brice, Alexis, Seta, Nathalie, Héron, Delphine

lấy văn bản lấy văn bản lấy văn bản

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression Bằng Mignot, Cyril, Apartis, Emmanuelle, Durr, Alexandra, Marques Lourenço, Charles, Charles, Perrine, Devos, David, Moreau, Caroline, de Lonlay, Pascale, Drouot, Nathalie, Burglen, Lydie, Kempf, Nadine, Nourisson, Elsa, Chantot-Bastaraud, Sandra, Lebre, Anne-Sophie, Rio, Marlène, Chaix, Yves, Bieth, Eric, Roze, Emmanuel, Bonnet, Isabelle, Canaple, Sandrine, Rastel, Coralie, Brice, Alexis, Rötig, Agnès, Desguerre, Isabelle, Tranchant, Christine, Koenig, Michel, Anheim, Mathieu

lấy văn bản lấy văn bản lấy văn bản

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy Bằng Klebe, Stephan, Depienne, Christel, Gerber, Sylvie, Challe, Georges, Anheim, Mathieu, Charles, Perrine, Fedirko, Estelle, Lejeune, Elodie, Cottineau, Julien, Brusco, Alfredo, Dollfus, Hélène, Chinnery, Patrick F., Mancini, Cecilia, Ferrer, Xavier, Sole, Guilhem, Destée, Alain, Mayer, Jean-Michel, Fontaine, Bertrand, de Seze, Jérôme, Clanet, Michel, Ollagnon, Elisabeth, Busson, Philippe, Cazeneuve, Cécile, Stevanin, Giovanni, Kaplan, Josseline, Rozet, Jean-Michel, Brice, Alexis, Durr, Alexandra

lấy văn bản lấy văn bản lấy văn bản

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2 Bằng Milh, Mathieu, Boutry-Kryza, Nadia, Sutera-Sardo, Julie, Mignot, Cyril, Auvin, Stéphane, Lacoste, Caroline, Villeneuve, Nathalie, Roubertie, Agathe, Heron, Bénédicte, Carneiro, Maryline, Kaminska, Anna, Altuzarra, Cécilia, Blanchard, Gaëlle, Ville, Dorothée, Barthez, Marie Anne, Heron, Delphine, Gras, Domitille, Afenjar, Alexandra, Dorison, Nathalie, Doummar, Dianne, Billette de Villemeur, Thierry, An, Isabelle, Jacquette, Aurélia, Charles, Perrine, Perrier, Julie, Isidor, Bertrand, Vercueil, Laurent, Chabrol, Brigitte, Badens, Catherine, Lesca, Gaétan, Villard, Laurent

lấy văn bản lấy văn bản lấy văn bản

Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia Bằng Boukhris, Amir, Schule, Rebecca, Loureiro, José L., Lourenço, Charles Marques, Mundwiller, Emeline, Gonzalez, Michael A., Charles, Perrine, Gauthier, Julie, Rekik, Imen, Acosta Lebrigio, Rafael F., Gaussen, Marion, Speziani, Fiorella, Ferbert, Andreas, Feki, Imed, Caballero-Oteyza, Andrés, Dionne-Laporte, Alexandre, Amri, Mohamed, Noreau, Anne, Forlani, Sylvie, Cruz, Vitor T., Mochel, Fanny, Coutinho, Paula, Dion, Patrick, Mhiri, Chokri, Schols, Ludger, Pouget, Jean, Darios, Frédéric, Rouleau, Guy A., Marques, Wilson, Brice, Alexis, Durr, Alexandra, Zuchner, Stephan, Stevanin, Giovanni

lấy văn bản lấy văn bản lấy văn bản

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia Bằng Coutelier, Marie, Goizet, Cyril, Durr, Alexandra, Habarou, Florence, Morais, Sara, Dionne-Laporte, Alexandre, Tao, Feifei, Konop, Juliette, Stoll, Marion, Charles, Perrine, Jacoupy, Maxime, Matusiak, Raphaël, Alonso, Isabel, Tallaksen, Chantal, Mairey, Mathilde, Kennerson, Marina, Gaussen, Marion, Schule, Rebecca, Janin, Maxime, Morice-Picard, Fanny, Durand, Christelle M., Depienne, Christel, Calvas, Patrick, Coutinho, Paula, Saudubray, Jean-Marie, Rouleau, Guy, Brice, Alexis, Nicholson, Garth, Darios, Frédéric, Loureiro, José L., Zuchner, Stephan, Ottolenghi, Chris, Mochel, Fanny, Stevanin, Giovanni

lấy văn bản lấy văn bản lấy văn bản

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes Bằng Coutelier, Marie, Hammer, Monia B., Stevanin, Giovanni, Monin, Marie-Lorraine, Davoine, Claire-Sophie, Mochel, Fanny, Labauge, Pierre, Ewenczyk, Claire, Ding, Jinhui, Gibbs, J. Raphael, Hannequin, Didier, Melki, Judith, Toutain, Annick, Laugel, Vincent, Forlani, Sylvie, Charles, Perrine, Broussolle, Emmanuel, Thobois, Stéphane, Afenjar, Alexandra, Anheim, Mathieu, Calvas, Patrick, Castelnovo, Giovanni, de Broucker, Thomas, Vidailhet, Marie, Moulignier, Antoine, Ghnassia, Robert T., Tallaksen, Chantal, Mignot, Cyril, Goizet, Cyril, Le Ber, Isabelle, Ollagnon-Roman, Elisabeth, Pouget, Jean, Brice, Alexis, Singleton, Andrew, Durr, Alexandra

lấy văn bản lấy văn bản lấy văn bản

Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2 Bằng Boot, Erik, Butcher, Nancy J., Udow, Sean, Marras, Connie, Mok, Kin Y., Kaneko, Satoshi, Barrett, Matthew J., Prontera, Paolo, Berman, Brian D., Masellis, Mario, Dufournet, Boris, Nguyen, Karine, Charles, Perrine, Mutez, Eugénie, Danaila, Teodor, Jacquette, Aurélia, Colin, Olivier, Drapier, Sophie, Borg, Michel, Fiksinski, Ania M., Vergaelen, Elfi, Swillen, Ann, Vogels, Annick, Plate, Annika, Perandones, Claudia, Gasser, Thomas, Clerinx, Kristien, Bourdain, Frédéric, Mills, Kelly, Williams, Nigel M., Wood, Nicholas W., Booij, Jan, Lang, Anthony E., Bassett, Anne S.

lấy văn bản lấy văn bản lấy văn bản

Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression Bằng Diallo, Alhassane, Jacobi, Heike, Schmitz‐Hübsch, Tanja, Cook, Arron, Labrum, Robyn, Durr, Alexandra, Brice, Alexis, Charles, Perrine, Marelli, Cecilia, Mariotti, Caterina, Nanetti, Lorenzo, Panzeri, Marta, Rakowicz, Maria, Sobanska, Anna, Sulek, Anna, Schöls, Ludger, Hengel, Holger, Melegh, Bela, Filla, Alessandro, Antenora, Antonella, Infante, Jon, Berciano, José, van de Warrenburg, Bart P., Timmann, Dagmar, Boesch, Sylvia, Pandolfo, Massimo, Schulz, Jörg B., Bauer, Peter, Giunti, Paola, Baliko, Laszlo, Parkinson, Michael H., Kang, Jun‐Suk, Klockgether, Thomas, Tezenas du Montcel, Sophie

lấy văn bản lấy văn bản lấy văn bản

Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6 Bằng Tezenas du Montcel, Sophie, Durr, Alexandra, Rakowicz, Maria, Nanetti, Lorenzo, Charles, Perrine, Sulek, Anna, Mariotti, Caterina, Rola, Rafal, Schols, Ludger, Bauer, Peter, Dufaure-Garé, Isabelle, Jacobi, Heike, Forlani, Sylvie, Schmitz-Hübsch, Tanja, Filla, Alessandro, Timmann, Dagmar, van de Warrenburg, Bart P, Marelli, Cecila, Kang, Jun-Suk, Giunti, Paola, Cook, Arron, Baliko, Laszlo, Bela, Melegh, Boesch, Sylvia, Szymanski, Sandra, Berciano, José, Infante, Jon, Buerk, Katrin, Masciullo, Marcella, Di Fabio, Roberto, Depondt, Chantal, Ratka, Susanne, Stevanin, Giovanni, Klockgether, Thomas, Brice, Alexis, Golmard, Jean-Louis

lấy văn bản lấy văn bản lấy văn bản

Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders Bằng Fischer-Zirnsak, Björn, Segebrecht, Lara, Schubach, Max, Charles, Perrine, Alderman, Emily, Brown, Kathleen, Cadieux-Dion, Maxime, Cartwright, Tracy, Chen, Yanmin, Costin, Carrie, Fehr, Sarah, Fitzgerald, Keely M., Fleming, Emily, Foss, Kimberly, Ha, Thoa, Hildebrand, Gabriele, Horn, Denise, Liu, Shuxi, Marco, Elysa J., McDonald, Marie, McWalter, Kirsty, Race, Simone, Rush, Eric T., Si, Yue, Saunders, Carol, Slavotinek, Anne, Stockler-Ipsiroglu, Sylvia, Telegrafi, Aida, Thiffault, Isabelle, Torti, Erin, Tsai, Anne Chun-hui, Wang, Xin, Zafar, Muhammad, Keren, Boris, Kornak, Uwe, Boerkoel, Cornelius F., Mirzaa, Ghayda, Ehmke, Nadja

lấy văn bản lấy văn bản lấy văn bản

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7 Bằng Coarelli, Giulia, Schule, Rebecca, van de Warrenburg, Bart P.C., De Jonghe, Peter, Ewenczyk, Claire, Martinuzzi, Andrea, Synofzik, Matthis, Hamer, Elisa G., Baets, Jonathan, Anheim, Mathieu, Schöls, Ludger, Deconinck, Tine, Masrori, Pegah, Fontaine, Bertrand, Klockgether, Thomas, D'Angelo, Maria Grazia, Monin, Marie-Lorraine, De Bleecker, Jan, Migeotte, Isabelle, Charles, Perrine, Bassi, Maria Teresa, Klopstock, Thomas, Mochel, Fanny, Ollagnon-Roman, Elisabeth, D'Hooghe, Marc, Kamm, Christoph, Kurzwelly, Delia, Papin, Melanie, Davoine, Claire-Sophie, Banneau, Guillaume, Tezenas du Montcel, Sophie, Seilhean, Danielle, Brice, Alexis, Duyckaerts, Charles, Stevanin, Giovanni, Durr, Alexandra

lấy văn bản lấy văn bản lấy văn bản

Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1 Bằng Renaud, Mathilde, Moreira, Maria-Céu, Ben Monga, Bondo, Rodriguez, Diana, Debs, Rabab, Charles, Perrine, Chaouch, Malika, Ferrat, Farida, Laurencin, Chloé, Vercueil, Laurent, Mallaret, Martial, M’Zahem, Abderrahim, Pacha, Lamia Ali, Tazir, Meriem, Tilikete, Caroline, Ollagnon, Elisabeth, Ochsner, François, Kuntzer, Thierry, Jung, Hans H., Beis, Jean-Marie, Netter, Jean-Claude, Djamshidian, Atbin, Bower, Mattew, Bottani, Armand, Walsh, Richard, Murphy, Sinead, Reiley, Thomas, Bieth, Éric, Roelens, Filip, Poll-The, Bwee Tien, Lourenço, Charles Marques, Jardim, Laura Bannach, Straussberg, Rachel, Landrieu, Pierre, Roze, Emmanuel, Thobois, Stéphane, Pouget, Jean, Guissart, Claire, Goizet, Cyril, Dürr, Alexandra, Tranchant, Christine, Koenig, Michel, Anheim, Mathieu

lấy văn bản lấy văn bản lấy văn bản