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18 results on '"Le Goff, Laure"'

1. Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment

Author

Desguerre, Isabelle, Barrois, Rémi, Audic, Frédérique, Barnerias, Christine, Chabrol, Brigitte, Davion, Jean Baptiste, Durigneux, Julien, Espil-Taris, Caroline, Gomez-Garcia de la Banda, Marta, Guichard, Marine, Isapof, Arnaud, Nougues, Marie Christine, Laugel, Vincent, Le Goff, Laure, Mercier, Sandra, Pervillé, Anne, Richelme, Christian, Thibaud, Marie, Sarret, Catherine, Schweitzer, Cyril, Testard, Hervé, Trommsdorff, Valérie, Vanhulle, Catherine, Walther-Louvier, Ulrike, Altuzarra, Cécilia, Chouchane, Mondher, Ropars, Juliette, Quijano-Roy, Susana, and Cances, Claude

Published
2024
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3. Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons

Author

Jacquier, Arnaud, Risson, Valérie, Simonet, Thomas, Roussange, Florine, Lacoste, Nicolas, Ribault, Shams, Carras, Julien, Theuriet, Julian, Girard, Emmanuelle, Grosjean, Isabelle, Le Goff, Laure, Kröger, Stephan, Meltoranta, Julia, Bauché, Stéphanie, Sternberg, Damien, Fournier, Emmanuel, Kostera-Pruszczyk, Anna, O’Connor, Emily, Eymard, Bruno, Lochmüller, Hanns, Martinat, Cécile, and Schaeffer, Laurent

Published
2022
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4. Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial

Author

Volpe, Joseph J., Posner, John, Kellner, Ulrich, Quinlivan, Rosaline, Daron, Aurore, Delstanche, Stéphanie, Bruninx, Romain, Dal Farra, Fabian, Schneider, Olivier, Deconinck, Nicolas, Balikova, Irina, Delbeke, Patricia, Joniau, Inge, Tahon, Valentine, Wittevrongel, Sylvia, De Vos, Elke, Goemans, Nathalie, Casteels, Ingele, De Waele, Liesbeth, Cassiman, Catherine, Prové, Lies, Kinoo, David, Vancampenhout, Lisa, Van Den Hauwe, Marleen, Van Impe, Annelies, Prufer de Queiroz Campos Araujo, Alexandra, Chacon Pereira, Aline, Nardes, Flávia, Haefeli, Lorena, Rossetto, Julia, Ferreira Rebel, Marcos, Almeida Pereira, Jaqueline, Campbell, Craig, Sharan, Sapna, McDonald, Wendy, Scholtes, Cheryl, Mah, Jean, Sframeli, Maria, Chiu, Angela, Hagel, Jane, Oskoui, Maryam, Beneish, Raquel, Cariou-Palmer, Gaela, Pham, Connie, Toffoli, Daniela, Arpin, Stephanie, Turgeon Desilets, Sarah, Wang, Yi, Hu, Chaoping, Huan, Jianfeng, Qian, Chen, Shen, Li, Xiao, Ying, Zhou, Zhenxuan, Li, Hui, Wang, Sujuan, Xiong, Hui, Chang, Xingzhi, Dong, Hui, Liu, Ying, Sang, Tian, Wei, Cuijie, Wen, Jing, Cao, Yiwen, Ly, Xingyao, Zhao, Jingjing, Li, Wenzhu, Qin, Lun, Barisic, Nina, Galiot Delic, Martina, Ivkic, Petra Kristina, Vukojevic, Nenad, Kern, Ivana, Najdanovic, Boris, Skugor, Marin, Servais, Laurent, Boespflug-Tanguy, Odile, Gidaro, Teresa, Seferian, Andreea, De Lucia, Silvana, Barreau, Emmanuel, Mnafek, Nabila, Momtchilova, Marta Milkova, Peche, Helene, Valherie, Carole, Grange, Allison, Lilien, Charlotte, Milascevic, Darko, Tachibana, Shotaro, Ravelli, Claudia, Cardas, Ruxandra, Taytard, Jessica, Aubertin, Guillaume, Vanden Brande, Laure, Davion, Jean-Baptiste, Coopman, Stephanie, Bouacha, Ikram, Debruyne, Philippe, Defoort, Sabine, Derlyn, Gilles, Leroy, Florian, Danjoux, Loïc, Guilbaud, Julie, Desguerre, Isabelle, Barnérias, Christine, Semeraro, Michaela, Bremond-Gignac, Dominique, Bruere, Lenaic, Rateaux, Maxence, Deladrière, Élodie, Germa, Virginie, Pereon, Yann, Mercie, Sandra, Billaud, Fanny, Le Goff, Lucie, Letellier, Guy, Vuillerot, Carole, Portefaix, Aurélie, De-Montferrand, Camille, Le-Goff, Laure, Fontaine, Stephanie, Saidi, Manel, Bouzid, Nabil, Barriere, Aurélie, Tinat, Marie, Kirschner, Janbernd, Dreesbach, Michelle, Lagréze, Wolf, Michaelis, Bettina, Molnar, Fanni, Seger, Dorina, Vogt, Sibylle, Bertini, Enrico, D'Amico, Adele, Petroni, Sergio, Bonetti, Anna Maria, Carlesi, Adelina, Mizzoni, Irene, Bruno, Claudio, Priolo, Enrico, Rao, Giuseppe, Morando, Simone, Tacchetti, Paola, Zuffi, Ambra, Comi, Giacomo Pietro, Brusa, Roberta, Corti, Stefania, Daniele, Velardo, Govoni, Alessandra, Magri, Francesca, Minorini, Valeria, Osnaghi, Silvia Gabriella, Abbati, Francesca, Fassini, Federica, Foa, Michaela, Lopopolo, Amaqlia, Meneri, Megi, Zoppas, Francesca, Parente, Valeria, Baranello, Giovanni, Masson, Riccardo, Bianchi Marzoli, Stefania, Santarsiero, Diletta, Garcia Sierra, Myriam, Tremolada, Gemma, Arnoldi, Maria Teresa, Vigano, Marta, Zanin, Riccardo, Mercuri, Eugenio, Antonaci, Laura, de Sanctis, Roberto, Pane, Marika, Pera, Maria Carmela, Amorelli, Giulia Maria, Barresi, Costanza, D'Amico, Gugliemo, Orazi, Lorenzo, Coratti, Giorgia, Haginoya, Kazuhiro, Kato, Atsuko, Morishita, Yuko, Kira, Ryutaro, Akiyama, Kiyomu, Goto, Miwako, Mori, Yujiro, Okamoto, Misato, Tsutsui, Saki, Takatsuji, Yuta, Tanaka, Aya, Komaki, Hirofumi, Omori, Miina, Suzuki, Ippei, Takeuchi, Mizuki, Todoroki, Daisuke, Watanabe, Seji, Matsubayashi, Tomoko, Inakazu, Emi, Nagura, Hiroe, Suzuki, Akira, Usui, Manami, Ishikawa, Nobutsune, Harada, Yousuke, Fudeyasu, Kenishi, Hirata, Kazuhiko, Michiue, Kana, Ueda, Kazuyuki, Saito, Kayoko, Fujitani, Junko, Arakawa, Reiko, Takano, Kozue, Yashiro, Shigeko, Seki, Maiko, Sano, Nozomi, Fukuyama, Koji, Matsumoto, Yuki, Miyazaki, Hirofumi, Shibata, Minoru, Kobayashi, Kyoko, Nakamura, Yukie, Takeshima, Yasuhiro, Kuma, Moe, Kostera-Pruszczyk, Anna, Fraczek, Anna, Jedrzejowska, Maria, Lusakowska, Anna, Czeszyk-Piotrowicz, Agnieszka, Hautz, Wojciech, Rakusiewicz, Klaudia, Burlewicz, Malgorzata, Gierlak-Wojcicka, Zuzanna, Kepa, Malwina, Sikorski, Adam, Sobieraj, Marcin, Mazurkiewicz-Beldzinska, Maria, Lemska, Anna, Modrzejewska, Sandra, Koberda, Mateusz, Stodolska-Koberda, Urszula, Waskowska, Agnieszka, Kolendo, Jagoda, Sobierajska-Rek, Agnieszka, Steinborn, Barbara, Dalz, Magdalena, Grabowska, Julia, Hajduk, Wojciech, Janasiewicz-Karachitos, Justyna, Klimas, Monika, Stopa, Marcin, Gajewska, Ewa, Pusz, Beata, Vlodavets, Dmitry, Melnik, Evgenia, Leppenen, Natalya, Yupatova, Nataliya, Monakhova, Anastasya, Papina, Yulia, Shidlovsckaia, Olga, Milic Rasic, Vedrana, Brankovic, Vesna, Kosac, Ana, Djokic, Olivera, Jakšic, Vesna, Pepic, Ana, Martinovic, Jelena, Munell Casadesus, Francina, Tizzano, Eduardo, Martín Begué, Nieves, Wolley Dod, Charlotte, Subira, Olaia, Planas Pascual, Bernat, Toro Tamargo, Esther, Madruga Garrido, Marcos, Medina Romero, José David, Salinas, Marta Peña, Nascimento Osorio, Andrés, Díaz Cortés, Ana, Jiménez Gañan, Enrique, Suh, Simone Dowon, Medina Cantillo, Julita, Moya, Obdulia, Padros, Nuria, Urraca, Sandra Roca, Valdivia, Hugo Gonzalez, Pascual Pascual, Samuel, de Manuel, Sofía, Martin, Susana Noval, Burnham, Paul, Espinosa, Sandra, Moreno, Mercedes Martinez, Topaloglu, Haluk, Oncel, Ibrahim, Eroglu Ertugru, Nesibe, Konuskan, Bahadir, Eldem, Bora, Kadayifçilar, Sibel, Alemdaroglu, Ipek, Karaduman, Aynur Ayse, Yilmaz, Oznur Tunca, Bilgin, Neslihan, Sari, Seher, Chiriboga, Claudia, Lee, John J., Rome-Martin, Donnielle, Day, John W., Beres, Shannon, Duong, Tina, Gee, Richard, Dunaway Young, Sally, Fuerst-Recktenwald, Sabine, Marquet, Anne, Muelhardt, Nicoletta, Trundell, Dylan, Mazzone, Elena S, Nascimento, Andres, Gerber, Marianne, Gorni, Ksenija, Khwaja, Omar, Kletzl, Heidemarie, Scalco, Renata S, Staunton, Hannah, Yeung, Wai Yin, Martin, Carmen, Fontoura, Paulo, and Day, John W

Published
2022
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8. Expérience de l’utilisation des corticoïdes dans les laminopathies de l’enfant

Author

García-Uzquiano, Rocio, Gómez-García de la Banda, Marta, Le Goff, Laure, Manel, Véronique, Dabaj, Ivana, Mercier, Sandra, Ben Yaou, Rabah, Bonne, Gisèle, Carlier Y, Robert, Quijano-Roy, Susana, Service de Pédiatrie, CHU Raymond Poincaré, APHP, Université Paris Saclay/UFR Sciences de la santé-Université de Versailles Saint Quentin en Yvelines, Garches, France., Hospices Civils de Lyon (HCL), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hôpital Raymond Poincaré [AP-HP], Cancer and Brain Genomics (CBG), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institute for Research and Innovation in Biomedicine (IRIB), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS), Service de génétique clinique [Rennes], Université de Rennes (UR)-CHU Pontchaillou [Rennes]-hôpital Sud, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Service de Radiologie et Imagerie MeŽdicale, HoÆpital Raymond PoincareŽ (Assistance Publique, Hôpitaux de Paris), Garches, France, parent, Handicap neuromusculaire : Physiopathologie, Biothérapie et Pharmacologies appliquées (END-ICAP), and Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
[SDV]Life Sciences [q-bio]
Abstract

Introduction : Les atteintes musculaires par mutation du gène LMNA ont un spectre large, avec des formes congénitales (L-CMD) et des formes plus tardives de type Emery Dreifus (EDMD) et proximales non rétractiles. L’évolution des L-CMD est rapidement progressive, commençant par une faiblesse cervico-axiale (Syndrome, de la tête tombante ou dropped head dyndrome DHS), puis des extrémités et des muscles respiratoires, pouvant associer une atteinte cardiaque. Le traitement par corticoïdes a été suggéré en raison de signes inflammatoires observés sur la biopsie musculaire. Méthodes : Étude rétrospective des enfants atteints de myopathie par mutations de LMNA traités par corticoïdes au moins un an dans trois centres français. Les données génétiques, phénotypiques, d’évolution clinique (motrice respiratoire, cardiologique) et des tests complémentaires (biopsie, imagerie musculaire, biochimiques) ont été recueillies.Résultats : 7 enfants (6 DHS, 1 EDMD) ont été traités avec prednisone à 0.75 mg/Kg jour à un âge moyen de 4 ans (2-8) pendant 3 ans (1-7). Tous portaient une mutation de novo du gène LMNA. Des signes inflammatoires étaient observés chez tous les enfants sur biopsie (2) ou IRM musculaire corps entier (5). Trois patients qui n’avaient jamais marché ont acquis la marche après le traitement, dont un avec appui (2 semaines- 1 an). Un patient qui avait perdu la marche l’a récupéré deux ans après le début des corticoïdes. Les 2 patients DHS ambulatoires avant traitement sont restés stables (1-3 ans). Les corticoïdes étaient arrêtés chez le patient EDMD après trois ans de traitement devant une perte de périmètre de marche et une aggravation cardiaque. Conclusion: Le traitement par corticoïdes pourrait être bénéfique chez les jeunes enfants avec mutations dans le gène LMNA, en particulier ceux avec phénotype DHS traités avant l'âge de quatre ans. L’IRM musculaire pourrait être utile comme méthode non invasive pour évaluer la présence d’inflammation avant traitement et dans l’évolution.

Published
2023

9. Correction to: Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen

Author

Le Goff, Laure, primary, Seferian, Andreea, additional, Phelep, Aurelie, additional, Rippert, Pascal, additional, Mathieu, Marie-Laure, additional, Cances, Claude, additional, de Lattre, Capucine, additional, Durigneux, Julien, additional, Gousse, Gaelle, additional, Vincent-Genod, Dominique, additional, Ribault, Shams, additional, Gómez García de la Banda, Marta, additional, Quijano-Roy, Susana, additional, Sarret, Catherine, additional, Servais, Laurent, additional, and Vuillerot, Carole, additional

Published
2022
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10. Scoring People With Spinal Muscular Atrophy on the Motor Function Measure Using the Microsoft Kinect

Author

Vincent-Genod, Dominique, primary, Rippert, Pascal, additional, Coton, Justine, additional, Le Goff, Laure, additional, Barriere, Aurélie, additional, Berruyer, Anne, additional, Bernard, Marjorie, additional, Garde, Camille, additional, Gutierrez-Garcia, Marta, additional, Gilabert, Stéphanie, additional, Gomes-Lisboade-Souza, Adriana, additional, Daron, Aurore, additional, Servais, Laurent, additional, Thomann, Guillaume, additional, and Vuillerot, Carole, additional

Published
2022
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13. Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial

Author

Mercuri, Eugenio, primary, Deconinck, Nicolas, additional, Mazzone, Elena S, additional, Nascimento, Andres, additional, Oskoui, Maryam, additional, Saito, Kayoko, additional, Vuillerot, Carole, additional, Baranello, Giovanni, additional, Boespflug-Tanguy, Odile, additional, Goemans, Nathalie, additional, Kirschner, Janbernd, additional, Kostera-Pruszczyk, Anna, additional, Servais, Laurent, additional, Gerber, Marianne, additional, Gorni, Ksenija, additional, Khwaja, Omar, additional, Kletzl, Heidemarie, additional, Scalco, Renata S, additional, Staunton, Hannah, additional, Yeung, Wai Yin, additional, Martin, Carmen, additional, Fontoura, Paulo, additional, Day, John W, additional, Volpe, Joseph J., additional, Posner, John, additional, Kellner, Ulrich, additional, Quinlivan, Rosaline, additional, Daron, Aurore, additional, Delstanche, Stéphanie, additional, Bruninx, Romain, additional, Dal Farra, Fabian, additional, Schneider, Olivier, additional, Balikova, Irina, additional, Delbeke, Patricia, additional, Joniau, Inge, additional, Tahon, Valentine, additional, Wittevrongel, Sylvia, additional, De Vos, Elke, additional, Casteels, Ingele, additional, De Waele, Liesbeth, additional, Cassiman, Catherine, additional, Prové, Lies, additional, Kinoo, David, additional, Vancampenhout, Lisa, additional, Van Den Hauwe, Marleen, additional, Van Impe, Annelies, additional, Prufer de Queiroz Campos Araujo, Alexandra, additional, Chacon Pereira, Aline, additional, Nardes, Flávia, additional, Haefeli, Lorena, additional, Rossetto, Julia, additional, Ferreira Rebel, Marcos, additional, Almeida Pereira, Jaqueline, additional, Campbell, Craig, additional, Sharan, Sapna, additional, McDonald, Wendy, additional, Scholtes, Cheryl, additional, Mah, Jean, additional, Sframeli, Maria, additional, Chiu, Angela, additional, Hagel, Jane, additional, Beneish, Raquel, additional, Cariou-Palmer, Gaela, additional, Pham, Connie, additional, Toffoli, Daniela, additional, Arpin, Stephanie, additional, Turgeon Desilets, Sarah, additional, Wang, Yi, additional, Hu, Chaoping, additional, Huan, Jianfeng, additional, Qian, Chen, additional, Shen, Li, additional, Xiao, Ying, additional, Zhou, Zhenxuan, additional, Li, Hui, additional, Wang, Sujuan, additional, Xiong, Hui, additional, Chang, Xingzhi, additional, Dong, Hui, additional, Liu, Ying, additional, Sang, Tian, additional, Wei, Cuijie, additional, Wen, Jing, additional, Cao, Yiwen, additional, Ly, Xingyao, additional, Zhao, Jingjing, additional, Li, Wenzhu, additional, Qin, Lun, additional, Barisic, Nina, additional, Galiot Delic, Martina, additional, Ivkic, Petra Kristina, additional, Vukojevic, Nenad, additional, Kern, Ivana, additional, Najdanovic, Boris, additional, Skugor, Marin, additional, Gidaro, Teresa, additional, Seferian, Andreea, additional, De Lucia, Silvana, additional, Barreau, Emmanuel, additional, Mnafek, Nabila, additional, Momtchilova, Marta Milkova, additional, Peche, Helene, additional, Valherie, Carole, additional, Grange, Allison, additional, Lilien, Charlotte, additional, Milascevic, Darko, additional, Tachibana, Shotaro, additional, Ravelli, Claudia, additional, Cardas, Ruxandra, additional, Taytard, Jessica, additional, Aubertin, Guillaume, additional, Vanden Brande, Laure, additional, Davion, Jean-Baptiste, additional, Coopman, Stephanie, additional, Bouacha, Ikram, additional, Debruyne, Philippe, additional, Defoort, Sabine, additional, Derlyn, Gilles, additional, Leroy, Florian, additional, Danjoux, Loïc, additional, Guilbaud, Julie, additional, Desguerre, Isabelle, additional, Barnérias, Christine, additional, Semeraro, Michaela, additional, Bremond-Gignac, Dominique, additional, Bruere, Lenaic, additional, Rateaux, Maxence, additional, Deladrière, Élodie, additional, Germa, Virginie, additional, Pereon, Yann, additional, Mercie, Sandra, additional, Billaud, Fanny, additional, Le Goff, Lucie, additional, Letellier, Guy, additional, Portefaix, Aurélie, additional, De-Montferrand, Camille, additional, Le-Goff, Laure, additional, Fontaine, Stephanie, additional, Saidi, Manel, additional, Bouzid, Nabil, additional, Barriere, Aurélie, additional, Tinat, Marie, additional, Dreesbach, Michelle, additional, Lagréze, Wolf, additional, Michaelis, Bettina, additional, Molnar, Fanni, additional, Seger, Dorina, additional, Vogt, Sibylle, additional, Bertini, Enrico, additional, D'Amico, Adele, additional, Petroni, Sergio, additional, Bonetti, Anna Maria, additional, Carlesi, Adelina, additional, Mizzoni, Irene, additional, Bruno, Claudio, additional, Priolo, Enrico, additional, Rao, Giuseppe, additional, Morando, Simone, additional, Tacchetti, Paola, additional, Zuffi, Ambra, additional, Comi, Giacomo Pietro, additional, Brusa, Roberta, additional, Corti, Stefania, additional, Daniele, Velardo, additional, Govoni, Alessandra, additional, Magri, Francesca, additional, Minorini, Valeria, additional, Osnaghi, Silvia Gabriella, additional, Abbati, Francesca, additional, Fassini, Federica, additional, Foa, Michaela, additional, Lopopolo, Amaqlia, additional, Meneri, Megi, additional, Zoppas, Francesca, additional, Parente, Valeria, additional, Masson, Riccardo, additional, Bianchi Marzoli, Stefania, additional, Santarsiero, Diletta, additional, Garcia Sierra, Myriam, additional, Tremolada, Gemma, additional, Arnoldi, Maria Teresa, additional, Vigano, Marta, additional, Zanin, Riccardo, additional, Mercuri, Eugenio, additional, Antonaci, Laura, additional, de Sanctis, Roberto, additional, Pane, Marika, additional, Pera, Maria Carmela, additional, Amorelli, Giulia Maria, additional, Barresi, Costanza, additional, D'Amico, Gugliemo, additional, Orazi, Lorenzo, additional, Coratti, Giorgia, additional, Haginoya, Kazuhiro, additional, Kato, Atsuko, additional, Morishita, Yuko, additional, Kira, Ryutaro, additional, Akiyama, Kiyomu, additional, Goto, Miwako, additional, Mori, Yujiro, additional, Okamoto, Misato, additional, Tsutsui, Saki, additional, Takatsuji, Yuta, additional, Tanaka, Aya, additional, Komaki, Hirofumi, additional, Omori, Miina, additional, Suzuki, Ippei, additional, Takeuchi, Mizuki, additional, Todoroki, Daisuke, additional, Watanabe, Seji, additional, Matsubayashi, Tomoko, additional, Inakazu, Emi, additional, Nagura, Hiroe, additional, Suzuki, Akira, additional, Usui, Manami, additional, Ishikawa, Nobutsune, additional, Harada, Yousuke, additional, Fudeyasu, Kenishi, additional, Hirata, Kazuhiko, additional, Michiue, Kana, additional, Ueda, Kazuyuki, additional, Fujitani, Junko, additional, Arakawa, Reiko, additional, Takano, Kozue, additional, Yashiro, Shigeko, additional, Seki, Maiko, additional, Sano, Nozomi, additional, Fukuyama, Koji, additional, Matsumoto, Yuki, additional, Miyazaki, Hirofumi, additional, Shibata, Minoru, additional, Kobayashi, Kyoko, additional, Nakamura, Yukie, additional, Takeshima, Yasuhiro, additional, Kuma, Moe, additional, Fraczek, Anna, additional, Jedrzejowska, Maria, additional, Lusakowska, Anna, additional, Czeszyk-Piotrowicz, Agnieszka, additional, Hautz, Wojciech, additional, Rakusiewicz, Klaudia, additional, Burlewicz, Malgorzata, additional, Gierlak-Wojcicka, Zuzanna, additional, Kepa, Malwina, additional, Sikorski, Adam, additional, Sobieraj, Marcin, additional, Mazurkiewicz-Beldzinska, Maria, additional, Lemska, Anna, additional, Modrzejewska, Sandra, additional, Koberda, Mateusz, additional, Stodolska-Koberda, Urszula, additional, Waskowska, Agnieszka, additional, Kolendo, Jagoda, additional, Sobierajska-Rek, Agnieszka, additional, Steinborn, Barbara, additional, Dalz, Magdalena, additional, Grabowska, Julia, additional, Hajduk, Wojciech, additional, Janasiewicz-Karachitos, Justyna, additional, Klimas, Monika, additional, Stopa, Marcin, additional, Gajewska, Ewa, additional, Pusz, Beata, additional, Vlodavets, Dmitry, additional, Melnik, Evgenia, additional, Leppenen, Natalya, additional, Yupatova, Nataliya, additional, Monakhova, Anastasya, additional, Papina, Yulia, additional, Shidlovsckaia, Olga, additional, Milic Rasic, Vedrana, additional, Brankovic, Vesna, additional, Kosac, Ana, additional, Djokic, Olivera, additional, Jakšic, Vesna, additional, Pepic, Ana, additional, Martinovic, Jelena, additional, Munell Casadesus, Francina, additional, Tizzano, Eduardo, additional, Martín Begué, Nieves, additional, Wolley Dod, Charlotte, additional, Subira, Olaia, additional, Planas Pascual, Bernat, additional, Toro Tamargo, Esther, additional, Madruga Garrido, Marcos, additional, Medina Romero, José David, additional, Salinas, Marta Peña, additional, Nascimento Osorio, Andrés, additional, Díaz Cortés, Ana, additional, Jiménez Gañan, Enrique, additional, Suh, Simone Dowon, additional, Medina Cantillo, Julita, additional, Moya, Obdulia, additional, Padros, Nuria, additional, Urraca, Sandra Roca, additional, Valdivia, Hugo Gonzalez, additional, Pascual Pascual, Samuel, additional, de Manuel, Sofía, additional, Martin, Susana Noval, additional, Burnham, Paul, additional, Espinosa, Sandra, additional, Moreno, Mercedes Martinez, additional, Topaloglu, Haluk, additional, Oncel, Ibrahim, additional, Eroglu Ertugru, Nesibe, additional, Konuskan, Bahadir, additional, Eldem, Bora, additional, Kadayifçilar, Sibel, additional, Alemdaroglu, Ipek, additional, Karaduman, Aynur Ayse, additional, Yilmaz, Oznur Tunca, additional, Bilgin, Neslihan, additional, Sari, Seher, additional, Chiriboga, Claudia, additional, Lee, John J., additional, Rome-Martin, Donnielle, additional, Day, John W., additional, Beres, Shannon, additional, Duong, Tina, additional, Gee, Richard, additional, Dunaway Young, Sally, additional, Fuerst-Recktenwald, Sabine, additional, Marquet, Anne, additional, Muelhardt, Nicoletta, additional, and Trundell, Dylan, additional

Published
2022
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15. Responsiveness and Minimal Clinically Important Difference of the Motor Function Measure in Collagen VI-Related Dystrophies and Laminin Alpha2-Related Muscular Dystrophy

Author

Le Goff, Laure, primary, Meilleur, Katherine G., additional, Norato, Gina, additional, Rippert, Pascal, additional, Jain, Minal, additional, Fink, Margaret, additional, Foley, A. Reghan, additional, Waite, Melissa, additional, Donkervoort, Sandra, additional, Bönnemann, Carsten G., additional, and Vuillerot, Carole, additional

Published
2021
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17. [Psychomotor development of infants and children...]

Author

Le Goff L, Mamimoue É, Pelluet A, Des Portes V, and Fourneret P

Subjects
Child, Humans, Infant, Child Development, Developmental Disabilities
Abstract

Competing Interests: L. Le Goff déclare être investigatrice dans des essais cliniques menés par Roche et par Généthon et avoir reçu un financement de Biogen pour mener à bien une étude académique. Je déclare avoir été pris en charge (transport, hôtel, repas), à l’occasion de déplacement pour congrès ou formations, par Biogen, Allergan et Ipsen.É. Mamimoue, A. Pelluet, V. Des Portes et P. Fourneret déclarent n'avoir aucun lien d'intérêts.

Published
2022

18. [Psychomotor development in infants and children. Normal and pathological aspects ( sleep, diet, sphincter controls, psychomotricity)].

Author

Le Goff L, Mamimoue É, Pelluet A, Des portes V, and Fourneret P

Subjects
Child, Diet, Humans, Infant, Child Development, Sleep
Abstract

Competing Interests: L. Le Goff déclare être investigatrice dans des essais cliniques menés par Roche et par Généthon et avoir reçu un financement de Biogen pour mener à bien une étude académique. Je déclare avoir été pris en charge (transport, hôtel, repas), à l’occasion de déplacement pour congrès ou formations, par Biogen, Allergan et Ipsen.É. Mamimoue, A. Pelluet, V. Des Portes et P. Fourneret déclarent n'avoir aucun lien d'intérêts.

Published
2021

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