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01/10/2024
Genetic mosaicism, an underestimated event in genetically unsolved neuromuscular patients: study of two families
Estévez-Arias, B, Segarra-Casas, A, Ortez, C, Matalonga, L, Carrera-García, L, Expósito-Escudero, J, Jou, C, Codina, A, Jiménez-Mallebrera, C, Martorell, L, Lochmüller, H, Töpf, A, Beltran, S, Hoenicka, J, Palau, F, Martí, I, Gallano, P, Nascimento, A, Natera-de Benito, D, González-Quereda, L. Genetic mosaicism, an underestimated event in genetically unsolved neuromuscular patients: study of two families. NEUROMUSCULAR DISORDERS. 2024; 43DOI:. PMID:. IF:2.800(Q2/5D).
01/10/2024
Familial case of Bethlem myopathy caused by an ALU insertion in COL6A2
Luce, L, Demidov, G, Duff, J, McFarlane, A, Segarra-Casas, A, Laurie, S, de Visser, M, van der Kooi, A, Straub, V, Töpf, A. Familial case of Bethlem myopathy caused by an ALU insertion in COL6A2. NEUROMUSCULAR DISORDERS. 2024; 43DOI:. PMID:. IF:2.800(Q2/5D).
01/10/2024
Monoallelic DAG1 truncating variants in patients with hyperCKemia
Segarra-Casas, A, Trainor, C, Polavarapu, K, Díaz-Manera, J, Gonzalez-Quereda, L, Kirschner, J, de Munain, AL, Nascimento, A, Roos, A, Dowling, J, Muntoni, F, Töpf, A, Straub, V. Monoallelic DAG1 truncating variants in patients with hyperCKemia. NEUROMUSCULAR DISORDERS. 2024; 43DOI:10.1016/j.nmd.2024.07.257. PMID:. IF:2.800(Q2/5D).
01/10/2024
OUTCOME OF PATIENTS WITH SIGNAL-TRANSDUCER AND ACTIVATOR OF OF TRANSCRIPTION 1 MUTATIONS (STAT1) GAIN-OF-FUNCTION VARIANTS AFTER HAEMATOPOIETIC STEM CELL TRANSPLANTATION - AN IEWP/PIDTC STUDY
Buddingh, EP, Slatter, M, Becerra, JCA, Garcia, LA, von Asmuth, E, Baris, S, de la Calle-Mart n, O, Chan, A, Chan, B, Chandrakasan, S, Chellapandian, D, Dara, J, Landsverk, HCE, Farmand, S, Fasth, A, Forbes, L, Formankova, R, Grunebaum, E, Keogh, S, Kiykim, A, K hl, JS, Laberko, A, Lankester, A, Leahy, TR, Lindemans, C, Martinez, C, Mart nez-Mart nez, L, Mitchell, WG, Morris, E, Neven, B, Oved, J, Prazenicova, M, Riviere, JG, Roifman, C, G ltekin, SSK, Sedlacek, P, Shah, A, Vong, L, Leiding, J, Sch tz, C. OUTCOME OF PATIENTS WITH SIGNAL-TRANSDUCER AND ACTIVATOR OF OF TRANSCRIPTION 1 MUTATIONS (STAT1) GAIN-OF-FUNCTION VARIANTS AFTER HAEMATOPOIETIC STEM CELL TRANSPLANTATION - AN IEWP/PIDTC STUDY. BONE MARROW TRANSPLANTATION. 2024; 59DOI:. PMID:. IF:5.200(Q1/1D).