Ngā hua rapu - Hully, Marie

Unilateral predominance of abnormal movements: A characteristic feature of the pediatric anti-NMDA receptor encephalitis? mā Benjumea-Cuartas, Vanessa, Eisermann, Monika, Simonnet, Hina, Hully, Marie, Nabbout, Rima, Desguerre, Isabelle, Kaminska, Anna

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Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes mā Hully, Marie, Lo Barco, Tommaso, Kaminska, Anna, Barcia, Giulia, Cances, Claude, Mignot, Cyril, Desguerre, Isabelle, Garcelon, Nicolas, Kabashi, Edor, Nabbout, Rima

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New insights into genotype–phenotype correlations for the doublecortin-related lissencephaly spectrum mā Bahi-Buisson, Nadia, Souville, Isabelle, Fourniol, Franck J., Toussaint, Aurelie, Moores, Carolyn A., Houdusse, Anne, Yves Lemaitre, Jean, Poirier, Karine, Khalaf-Nazzal, Reham, Hully, Marie, Louis Leger, Pierre, Elie, Caroline, Boddaert, Nathalie, Beldjord, Cherif, Chelly, Jamel, Francis, Fiona

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Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports mā Hully, Marie, Barnerias, Christine, Chabalier, Delphine, Le Guen, Sophie, Germa, Virginie, Deladriere, Elodie, Vanhulle, Catherine, Cuisset, Jean-Marie, Chabrol, Brigitte, Cances, Claude, Vuillerot, Carole, Espil, Caroline, Mayer, Michele, Nougues, Marie-Christine, Sabouraud, Pascal, Lefranc, Jeremie, Laugel, Vincent, Rivier, Francois, Louvier, Ulrike Walther, Durigneux, Julien, Napuri, Sylvia, Sarret, Catherine, Renouil, Michel, Masurel, Alice, Viallard, Marcel-Louis, Desguerre, Isabelle

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Neuroinflammatory Disease following Severe Acute Respiratory Syndrome Coronavirus 2 Infection in Children mā Aubart, Melodie, Roux, Charles-Joris, Durrleman, Chloé, Gins, Clarisse, Hully, Marie, Kossorotoff, Manoelle, Gitiaux, Cyril, Levy, Raphaël, Moulin, Florence, Debray, Agathe, Belhadjer, Zahra, Georget, Emilie, Kom, Temi, Blanc, Philippe, Wehbi, Samer, Mazeghrane, Mustapha, Tencer, Jeremie, Gajdos, Vincent, Rouget, Sebastien, De Pontual, Loic, Basmaci, Romain, Yacouben, Karima, Angoulvant, Francois, Leruez-Ville, Marianne, Sterlin, Delphine, Rozenberg, Flore, Robert, Matthieu P., Zhang, Shen-Ying, Boddaert, Nathalie, Desguerre, Isabelle

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Enhanced cGAS-STING–dependent interferon signaling associated with mutations in ATAD3A mā Lepelley, Alice, Della Mina, Erika, Van Nieuwenhove, Erika, Waumans, Lise, Fraitag, Sylvie, Rice, Gillian I., Dhir, Ashish, Frémond, Marie-Louise, Rodero, Mathieu P., Seabra, Luis, Carter, Edwin, Bodemer, Christine, Buhas, Daniela, Callewaert, Bert, de Lonlay, Pascale, De Somer, Lien, Dyment, David A., Faes, Fran, Grove, Lucy, Holden, Simon, Hully, Marie, Kurian, Manju A., McMillan, Hugh J., Suetens, Kristin, Tyynismaa, Henna, Chhun, Stéphanie, Wai, Timothy, Wouters, Carine, Bader-Meunier, Brigitte, Crow, Yanick J.

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Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy mā Vegas, Nancy, Cavallin, Mara, Maillard, Camille, Boddaert, Nathalie, Toulouse, Joseph, Schaefer, Elise, Lerman-Sagie, Tally, Lev, Dorit, Magalie, Barth, Moutton, Sébastien, Haan, Eric, Isidor, Bertrand, Heron, Delphine, Milh, Mathieu, Rondeau, Stéphane, Michot, Caroline, Valence, Stephanie, Wagner, Sabrina, Hully, Marie, Mignot, Cyril, Masurel, Alice, Datta, Alexandre, Odent, Sylvie, Nizon, Mathilde, Lazaro, Leila, Vincent, Marie, Cogné, Benjamin, Guerrot, Anne Marie, Arpin, Stéphanie, Pedespan, Jean Michel, Caubel, Isabelle, Pontier, Benedicte, Troude, Baptiste, Rivier, Francois, Philippe, Christophe, Bienvenu, Thierry, Spitz, Marie-Aude, Bery, Amandine, Bahi-Buisson, Nadia

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Detection of interferon alpha protein reveals differential levels and cellular sources in disease mā Rodero, Mathieu P., Decalf, Jérémie, Bondet, Vincent, Hunt, David, Rice, Gillian I., Werneke, Scott, McGlasson, Sarah L., Alyanakian, Marie-Alexandra, Bader-Meunier, Brigitte, Barnerias, Christine, Bellon, Nathalia, Belot, Alexandre, Bodemer, Christine, Briggs, Tracy A., Desguerre, Isabelle, Frémond, Marie-Louise, Hully, Marie, van den Maagdenberg, Arn M.J.M., Melki, Isabelle, Meyts, Isabelle, Musset, Lucile, Pelzer, Nadine, Quartier, Pierre, Terwindt, Gisela M., Wardlaw, Joanna, Wiseman, Stewart, Rieux-Laucat, Frédéric, Rose, Yoann, Neven, Bénédicte, Hertel, Christina, Hayday, Adrian, Albert, Matthew L., Rozenberg, Flore, Crow, Yanick J., Duffy, Darragh

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Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans mā Le, Thuy-Linh, Galmiche, Louise, Levy, Jonathan, Suwannarat, Pim, Hellebrekers, Debby M.E.I., Morarach, Khomgrit, Boismoreau, Franck, Theunissen, Tom E.J., Lefebvre, Mathilde, Pelet, Anna, Martinovic, Jelena, Gelot, Antoinette, Guimiot, Fabien, Calleroz, Amanda, Gitiaux, Cyril, Hully, Marie, Goulet, Olivier, Chardot, Christophe, Drunat, Severine, Capri, Yline, Bole-Feysot, Christine, Nitschké, Patrick, Whalen, Sandra, Mouthon, Linda, Babcock, Holly E., Hofstra, Robert, de Coo, Irenaeus F.M., Tabet, Anne-Claude, Molina, Thierry J., Keren, Boris, Brooks, Alice, Smeets, Hubert J.M., Marklund, Ulrika, Gordon, Christopher T., Lyonnet, Stanislas, Amiel, Jeanne, Bondurand, Nadège

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Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease mā Rice, Gillian I., Kitabayashi, Naoki, Barth, Magalie, Briggs, Tracy A., Burton, Annabel C.E., Carpanelli, Maria Luisa, Cerisola, Alfredo M., Colson, Cindy, Dale, Russell C., Danti, Federica Rachele, Darin, Niklas, De Azua, Begoña, De Giorgis, Valentina, De Goede, Christian G. L, Desguerre, Isabelle, De Laet, Corinne, Eslahi, Atieh, Fahey, Michael C., Fallon, Penny, Fay, Alex, Fazzi, Elisa, Gorman, Mark P., Gowrinathan, Nirmala Rani, Hully, Marie, Kurian, Manju A., Leboucq, Nicolas, Lin, Jean-Pierre S-M, Lines, Matthew A., Mar, Soe S., Maroofian, Reza, Martí-Sanchez, Laura, McCullagh, Gary, Mojarrad, Majid, Narayanan, Vinodh, Orcesi, Simona, Ortigoza-Escobar, Juan Dario, Pérez-Dueñas, Belén, Petit, Florence, Ramsey, Keri M., Rasmussen, Magnhild, Rivier, François, Rodríguez-Pombo, Pilar, Roubertie, Agathe, Stödberg, Tommy I., Toosi, Mehran Beiraghi, Toutain, Annick, Uettwiller, Florence, Ulrick, Nicole, Vanderver, Adeline, Waldman, Amy, Livingston, John H., Crow, Yanick J.

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KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation mā Cif, Laura, Demailly, Diane, Lin, Jean-Pierre, Barwick, Katy E, Sa, Mario, Abela, Lucia, Malhotra, Sony, Chong, Wui K, Steel, Dora, Sanchis-Juan, Alba, Ngoh, Adeline, Trump, Natalie, Meyer, Esther, Vasques, Xavier, Rankin, Julia, Allain, Meredith W, Applegate, Carolyn D, Attaripour Isfahani, Sanaz, Baleine, Julien, Balint, Bettina, Bassetti, Jennifer A, Baple, Emma L, Bhatia, Kailash P, Blanchet, Catherine, Burglen, Lydie, Cambonie, Gilles, Seng, Emilie Chan, Bastaraud, Sandra Chantot, Cyprien, Fabienne, Coubes, Christine, d’Hardemare, Vincent, Doja, Asif, Dorison, Nathalie, Doummar, Diane, Dy-Hollins, Marisela E, Farrelly, Ellyn, Fitzpatrick, David R, Fearon, Conor, Fieg, Elizabeth L, Fogel, Brent L, Forman, Eva B, Fox, Rachel G, Gahl, William A, Galosi, Serena, Gonzalez, Victoria, Graves, Tracey D, Gregory, Allison, Hallett, Mark, Hasegawa, Harutomo, Hayflick, Susan J, Hamosh, Ada, Hully, Marie, Jansen, Sandra, Jeong, Suh Young, Krier, Joel B, Krystal, Sidney, Kumar, Kishore R, Laurencin, Chloé, Lee, Hane, Lesca, Gaetan, François, Laurence Lion, Lynch, Timothy, Mahant, Neil, Martinez-Agosto, Julian A, Milesi, Christophe, Mills, Kelly A, Mondain, Michel, Morales-Briceno, Hugo, Ostergaard, John R, Pal, Swasti, Pallais, Juan C, Pavillard, Frédérique, Perrigault, Pierre-Francois, Petersen, Andrea K, Polo, Gustavo, Poulen, Gaetan, Rinne, Tuula, Roujeau, Thomas, Rogers, Caleb, Roubertie, Agathe, Sahagian, Michelle, Schaefer, Elise, Selim, Laila, Selway, Richard, Sharma, Nutan, Signer, Rebecca, Soldatos, Ariane G, Stevenson, David A, Stewart, Fiona, Tchan, Michel, Verma, Ishwar C, de Vries, Bert B A, Wilson, Jenny L, Wong, Derek A, Zaitoun, Raghda, Zhen, Dolly, Znaczko, Anna, Dale, Russell C, de Gusmão, Claudio M, Friedman, Jennifer, Fung, Victor S C, King, Mary D, Mohammad, Shekeeb S, Rohena, Luis, Waugh, Jeff L, Toro, Camilo, Raymond, F Lucy, Topf, Maya, Coubes, Philippe, Gorman, Kathleen M, Kurian, Manju A

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