Zobrazeno 1 - 10
of 206
pro vyhledávání: '"De Sandre Giovannoli, Annachiara"'
Autor:
Santinha, Deolinda, Vilaça, Andreia, Estronca, Luís, Schüler, Svenja C., Bartoli, Catherine, De Sandre-Giovannoli, Annachiara, Figueiredo, Arnaldo, Quaas, Maximillian, Pompe, Tilo, Ori, Alessandro, Ferreira, Lino
Publikováno v:
In Molecular & Cellular Proteomics January 2024 23(1)
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Elouej, Sahar, Beleza-Meireles, Ana, Caswell, Richard, Colclough, Kevin, Ellard, Sian, Desvignes, Jean Pierre, Béroud, Christophe, Lévy, Nicolas, Mohammed, Shehla, De Sandre-Giovannoli, Annachiara
Publikováno v:
In Metabolism June 2017 71:213-225
Autor:
Corvó, A., Matalonga, L., Hernandez-Ferrer, C., Thompson, R., Carmody, L., Piscia, D., Macaya, A., Lochmuller, A., Manta, A., Fontaine, B., Vicart, S., de Sandre-Giovannoli, Annachiara, Desaphy, J., Altamura, C., Wahbi, K., Vigouroux, C., Zurek, B., Rheinard, C., Andrés, D. Gómez, Schon, K., Over, L., Brüggemann, N., Lohmann, K., Jennings, M. J., Synofzik, M., Riess, O., Yaou, R. Ben, Evangelista, T., Ratnaike, T., Bros-Facer, V., Gumus, G., Horvath, R., Chinnery, P., Graessner, H., Robinson, P., Atalaia, A., Lochmuller, H., Beltran, S., Bonne, Gisèle
Publikováno v:
Solve-RD, Solving the unsolved Rare Diseases Final Meeting 2023
Solve-RD, Solving the unsolved Rare Diseases Final Meeting 2023, Apr 2023, Prague, Czech Republic
Solve-RD, Solving the unsolved Rare Diseases Final Meeting 2023, Apr 2023, Prague, Czech Republic
International audience; Although next-generation sequencing (NGS) has drastically improved diagnosis for patients with rare diseases (RDs), access to knowledge of effective treatments is still sparse and often unclear. The large number of RDs (>7,000
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3430::992340584d58ba86da21aa04ca150f23
https://hal.science/hal-04086225
https://hal.science/hal-04086225
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Yaou, Rabah Ben, Anselme, Frédéric, de Sandre-Giovannoli, Annachiara, Campanna-Salort, Emmanuelle, Charron, Philippe, Chikhaoui, Cathy, Jeru, Isabelle, Labombarda, Fabien, Leturcq, France, Quijano-Roy, Susana, Stalens, Caroline, Richard, Pascale, Vigouroux, Corinne, Bonne, Gisèle, Wahbi, Karim, Group, Opale Investigator
Publikováno v:
19èmes Journées de la Société Française de Myologie
19èmes Journées de la Société Française de Myologie, Nov 2022, Toulouse, France
19èmes Journées de la Société Française de Myologie, Nov 2022, Toulouse, France
International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::18512b11f2c416d38ef4b2b5660618d6
https://hal.science/hal-04003074
https://hal.science/hal-04003074
Autor:
Valayer, Simon, Hickman, Geoffroy, Petit, Antoine, Solal, Martine Cohen, De Sandre Giovannoli, Annachiara, Bourrat, Emmanuelle
Publikováno v:
Clinical & Experimental Dermatology; Feb2024, Vol. 49 Issue 2, p206-208, 3p
Autor:
Atalaia, A, Ferrer, C Hernandez, Corvó, A, Matalonga, L, Thompson, R, Carmody, L, Piscia, D, Macaya, A, Lochmuller, A, Manta, A, Fontaine, B, Vicart, S, Desaphy, JF, Altamura, C, Wahbi, K, de Sandre-Giovannoli, Annachiara, Vigouroux, C, Zurek, B, Rheinard, C, Andrés, D Gómez, Schon, K, Over, L, Brüggemann, N, Lohmann, K, Jennings, MJ, Synofzik, M, Riess, O, Yaou, R Ben, Evangelista, T, Ratnaike, T, Facer, V Bros, Gumus, G, Horvath, R, Chinnery, P, Laurie, S, Graessner, H, Robinson, P, Lochmuller, H, Beltran, S, Bonne, Gisèle
Publikováno v:
Solve-RD Annual Meeting 2022
Solve-RD Annual Meeting 2022, Apr 2022, Virtual Conference, Germany
Solve-RD Annual Meeting 2022, Apr 2022, Virtual Conference, Germany
International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::9650f299996da704195d94198efe534e
https://hal.science/hal-03989222
https://hal.science/hal-03989222
Autor:
Frankel, Diane, Delecourt, Valérie, Novoa-Del-Toro, Elva-María, Robin, Jérôme, Airault, Coraline, Bartoli, Catherine, Carabalona, Aurélie, Perrin, Sophie, Mazaleyrat, Kilian, de Sandre-Giovannoli, Annachiara, Magdinier, Frederique, Baudot, Anaïs, Lévy, Nicolas, Kaspi, Elise, Roll, Patrice
Publikováno v:
iScience
iScience, 2022, 25 (2), pp.103757. ⟨10.1016/j.isci.2022.103757⟩
iScience, Elsevier, 2022, 25 (2), pp.103757. ⟨10.1016/j.isci.2022.103757⟩
iScience, Vol 25, Iss 2, Pp 103757-(2022)
iScience, 2022, 25 (2), pp.103757. ⟨10.1016/j.isci.2022.103757⟩
iScience, Elsevier, 2022, 25 (2), pp.103757. ⟨10.1016/j.isci.2022.103757⟩
iScience, Vol 25, Iss 2, Pp 103757-(2022)
Summary Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder, in which an abnormal and toxic protein called progerin, accumulates in cell nuclei, leading to major cellular defects. Among them, chromatin remodeling drives gene expres
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::0e0a6b8f014ecd2caad7545d4dea2778
https://hal-amu.archives-ouvertes.fr/hal-03788582
https://hal-amu.archives-ouvertes.fr/hal-03788582
Autor:
Pitrez, Patricia, Estronca, Luis, Monteiro, Luis, Santinha, Deolinda, Harhouri, Karim, Navarro, Claire, Egesipe, Anne-Laure, Cavalho, Tania, Magalhaes, Joao-Pedro, Ori, Alessandro, Bernardo, Andreia, de Sandre-Giovannoli, Annachiara, Nissan, Xavier, Rosell, Anna, Ferreira, Lino
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______166::8010ab6a860f4d22e74caa27197d1816
https://hal-amu.archives-ouvertes.fr/hal-03780360
https://hal-amu.archives-ouvertes.fr/hal-03780360