CRISPR/Cas9-generated mouse model of Duchenne muscular dystrophy recapitulating a newly identified large 430 kb deletion in the human DMD gene
Egorova, Tatiana V, Zotova, Evgenia D, Reshetov, Denis A, Polikarpova, Anna V, Vassilieva, Svetlana G, Vlodavets, Dmitry V, Gavrilov, Alexey A, Ulianov, Sergey V, Buchman, Vladimir L, Deykin, Alexei V
Published in Disease models & mechanisms (01.04.2019)
Published in Disease models & mechanisms (01.04.2019)
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Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study
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Published in Orphanet journal of rare diseases (29.07.2022)
Published in Orphanet journal of rare diseases (29.07.2022)
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Pilot Program of Newborn Screening for 5q Spinal Muscular Atrophy in the Russian Federation
Mikhalchuk, Kristina, Shchagina, Olga, Chukhrova, Alena, Zabnenkova, Viktoria, Chausova, Polina, Ryadninskaya, Nina, Vlodavets, Dmitry, Kutsev, Sergei I, Polyakov, Alexander
Published in International journal of neonatal screening (16.05.2023)
Published in International journal of neonatal screening (16.05.2023)
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Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls
Darras, Basil T, Masson, Riccardo, Mazurkiewicz-Bełdzińska, Maria, Rose, Kristy, Xiong, Hui, Zanoteli, Edmar, Baranello, Giovanni, Bruno, Claudio, Vlodavets, Dmitry, Wang, Yi, El-Khairi, Muna, Gerber, Marianne, Gorni, Ksenija, Khwaja, Omar, Kletzl, Heidemarie, Scalco, Renata S, Fontoura, Paulo, Servais, Laurent
Published in The New England journal of medicine (29.07.2021)
Published in The New England journal of medicine (29.07.2021)
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Masson, Riccardo, Mazurkiewicz-Bełdzińska, Maria, Xiong, Hui, Bruno, Claudio, Day, John W, Deconinck, Nicolas, Klein, Andrea, Mercuri, Eugenio, Wang, Yi, Dodman, Angela, Gaki, Eleni, Posner, John, Kellner, Ulrich, Quinlivan, Rosaline, Khwaja, Omar, Scalco, Renata S, Seabrook, Timothy, Koch, Armin, Balikova, Irina, Tahon, Valentine, De Vos, Elke, de Holanda Mendonça, Rodrigo, Machado, Cleide, Polido, Graziela, Hu, Chaoping, Qian, Chen, Li, Hui, Zhou, Shuizhen, Zhou, Zhenxuan, Wei, Cuijie, Dong, Hui, Wen, Jing, Qin, Lun, Celovec, Ivan, Galiot Delic, Martina, Ivkic, Petra Kristina, Vukojevic, Nenad, Kern, Ivana, Boespflug-Tanguy, Odile, De Lucia, Silvana, Barreau, Emmanuel, Mnafek, Nabila, Peche, Helene, Pagliano, Emanuela, Bianchi Marzoli, Stefania, Santarsiero, Diletta, Tremolada, Gemma, Vigano, Marta, Dosi, Claudia, Zanin, Riccardo, Schembri, Veronica, Brolatti, Noemi, Rao, Giuseppe, Tassara, Elisa, Sposetti, Lorenza, Govoni, Alessandra, Osnaghi, Silvia Gabriella, Minorini, Valeria, Abbati, Francesca, Fassini, Federica, Foa, Michaela, Lopopolo, Amalia, Pane, Marika, Palermo, Concetta, Barresi, Costanza, Orazi, Lorenzo, Laura, Antonaci, De Sanctis, Roberto, Berti, Beatrice, Kimura, Naoki, Shimomura, Hideki, Lee, Tomoko, Morimatsu, Takanobu, Waskowska, Agnieszka, Kolendo, Jagoda, Sobierajska-Rek, Agnieszka, Modrzejewska, Sandra, Lemska, Anna, Melnik, Evgenia, Leppenen, Natalya, Papina, Yulia, Shidlovsckaia, Olga, Enzmann, Cornelia, Wondrusch Haschke, Christine, Topaloglu, Haluk, Oncel, Ibrahim, Ertugrul, Nesibe Eroglu, Konuskan, Bahadir, Alemdaroglu, Ipek, Sari, Seher, Karaduman, Aynur Ayse, Graham, Robert J, Ghosh, Partha, Levine, Alexis, Engelbrekt, Amanda, Ambrosio, Lucia, Baglieri, Anna Maria, Maczek, Elizabeth, Duong, Tina, Young, Sally
Published in Lancet neurology (01.12.2022)
Published in Lancet neurology (01.12.2022)
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Skeletal Muscle Quantitative Nuclear Magnetic Resonance Imaging and Spectroscopy as an Outcome Measure for Clinical Trials
Carlier, Pierre G, Marty, Benjamin, Scheidegger, Olivier, Loureiro de Sousa, Paulo, Baudin, Pierre-Yves, Snezhko, Eduard, Vlodavets, Dmitry
Published in Journal of neuromuscular diseases (03.03.2016)
Published in Journal of neuromuscular diseases (03.03.2016)
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Tasca, Giorgio, Monforte, Mauro, Díaz-Manera, Jordi, Brisca, Giacomo, Semplicini, Claudio, D’Amico, Adele, Fattori, Fabiana, Pichiecchio, Anna, Berardinelli, Angela, Maggi, Lorenzo, Maccagnano, Elio, Løkken, Nicoline, Marini-Bettolo, Chiara, Munell, Francina, Sanchez, Angel, Alshaikh, Nahla, Voermans, Nicol C, Dastgir, Jahannaz, Vlodavets, Dmitry, Haberlová, Jana, Magnano, Gianmichele, Walter, Maggie C, Quijano-Roy, Susana, Carlier, Robert-Yves, van Engelen, Baziel G M, Vissing, John, Straub, Volker, Bönnemann, Carsten G, Mercuri, Eugenio, Muntoni, Francesco, Pegoraro, Elena, Bertini, Enrico, Udd, Bjarne, Ricci, Enzo, Bruno, Claudio
Published in Journal of neurology, neurosurgery and psychiatry (01.01.2018)
Published in Journal of neurology, neurosurgery and psychiatry (01.01.2018)
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Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
Selvatici, Rita, Rossi, Rachele, Fortunato, Fernanda, Trabanelli, Cecilia, Sifi, Yamina, Margutti, Alice, Neri, Marcella, Gualandi, Francesca, Szabò, Lena, Fekete, Balint, Angelova, Lyudmilla, Litvinenko, Ivan, Ivanov, Ivan, Vildan, Yurtsever, Iuhas, Oana Alexandra, Vintan, Mihaela, Burloiu, Carmen, Lacramioara, Butnariu, Visa, Gabriela, Epure, Diana, Rusu, Cristina, Vasile, Daniela, Sandu, Magdalena, Vlodavets, Dmitry, Mager, Monica, Kyriakides, Theodore, Delin, Sanja, Lehman, Ivan, Fureš, Jadranka Sekelj, Bojinova, Veneta, Militaru, Mariela, Guergueltcheva, Velina, Burnyte, Birute, Molnar, Maria Judith, Butoianu, Niculina, Bensemmane, Selma Dounia, Makri-Mokrane, Samira, Herczegfalvi, Agnes, Panzaru, Monica, Emandi, Adela Chirita, Lusakowska, Anna, Potulska-Chromik, Anna, Kostera-Pruszczyk, Anna, Shatillo, Andriy, Khelladi, Djawed Bouchenak, Dendane, Oussama, Fang, Mingyan, Lu, Zhiyuan, Ferlini, Alessandra
Published in Neurology. Genetics (01.02.2021)
Published in Neurology. Genetics (01.02.2021)
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Imagerie et spectroscopie par résonance magnétique nucléaire du muscle strié squelettique: Utilisation comme outil d’évaluation pour les essais cliniques
Carlier, Pierre G., Marty, Benjamin, Scheidegger, Olivier, Loureiro de Sousa, Paulo, Baudin, Pierre-Yves, Snezhko, Eduard, Vlodavets, Dmitry
Published in Les Cahiers de Myologie (01.06.2016)
Published in Les Cahiers de Myologie (01.06.2016)
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Роль количественной магнитно-резонансной томографии и спектроскопии скелетных мышц в оценке результатов клинических исследований (часть II)
Carlier, P G, Marty, B, Scheidegger, O, Loureiro de Sousa, P, Baudin, P Y, Snezhko, E, Vlodavets, D, Baudin, P Y
Published in Nervno-myshechnye bolezni (01.01.2017)
Published in Nervno-myshechnye bolezni (01.01.2017)
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