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01/10/2024
Comparison of assays measuring extracellular vesicle tissue factor in plasma samples: communication from the ISTH SSC Subcommittee on Vascular Biology
Bonifay, A, Mackman, N, Hisada, Y, Sachetto, ATA, Hau, C, Gray, E, Hogwood, J, Aharon, A, Badimon, L, Barile, L, Baudar, J, Beckmann, L, Benedikter, B, Bolis, S, Bouriche, T, Brambilla, M, Burrello, J, Camera, M, Campello, E, Ettelaie, C, Faille, D, Featherby, S, Franco, C, Guldenpfennig, M, Hansen, JB, Judicone, C, Kim, Y, Kristensen, SR, Laakmann, K, Langer, F, Latysheva, N, Lucien, F, Menezes, EMD, Mullier, F, Norris, P, Nybo, J, Orbe, J, Osterud, B, Paramo, JA, Radu, CM, Roncal, C, Samadi, N, Snir, O, Suades, R, Wahlund, C, Chareyre, C, Abdili, E, Martinod, K, Thaler, J, Dignat-George, F, Nieuwland, R, Lacroix, R. Comparison of assays measuring extracellular vesicle tissue factor in plasma samples: communication from the ISTH SSC Subcommittee on Vascular Biology. JOURNAL OF THROMBOSIS AND HAEMOSTASIS. 2024; 22(10)DOI:10.1016/j.jtha.2024.05.037. PMID:38925490. IF:5.000(Q1/2D).
01/10/2024
ROLE OF STARD1 IN HEPATIC MITOCHONDRIAL- DERIVED OXYSTEROLS IN THE DEVELOPMENT OF CARDIOVASCULAR DYSFUNCTION IN MASH
Torres, S, Garcia, E, Nuñez, S, Ribas, V, Goicoechea, L, Jaara, H, Roldan, MA, Alvarez, AG, Cenarro, A, Munoz, E, Rico, N, Dantas, AP, Jimenez-Trinidad, FR, Guasch, E, Lopez, X, Rigoll, M, Casas, J, Llorente-Cortes, V, Garcia-Ruiz, C. ROLE OF STARD1 IN HEPATIC MITOCHONDRIAL- DERIVED OXYSTEROLS IN THE DEVELOPMENT OF CARDIOVASCULAR DYSFUNCTION IN MASH. HEPATOLOGY. 2024; 80DOI:. PMID:. IF:15.800(Q1/1D).
01/10/2024
Increased Platelet Adhesiveness in Patients with Venous Thromboembolic Disease
Martinez-Sanchez, J, Torramade-Moix, S, Moreno-Castaño, AB, Llobet, D, Jerez-Dolz, D, Sanchez, P, Carrasco, M, Mojal, S, Moret, C, Camacho, M, Soria, JM, Palomo, M, Martin-Fernandez, L, Vidal, F, Escolar, G, Diaz-Ricart, M, Souto, JC. Increased Platelet Adhesiveness in Patients with Venous Thromboembolic Disease. TH OPEN. 2024; 08(04)DOI:10.1055/s-0044-1800798. PMID:39619107. IF:(Q/D).
01/10/2024
An integrated transcriptomics and genomics approach to detect an X/autosome translocation in a female with Duchenne muscular dystrophy
Segarra-Casas, A, Yépez, V, Demidov, G, Laurie, S, Esteve, A, Gagneur, J, Parkhurst, Y, Muni-Lofra, R, Harris, E, Marini-Bettolo, C, Straub, V, Töpf, A. An integrated transcriptomics and genomics approach to detect an X/autosome translocation in a female with Duchenne muscular dystrophy. NEUROMUSCULAR DISORDERS. 2024; 43DOI:. PMID:. IF:2.800(Q2/5D).
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).