Zobrazeno 51 - 60
of 608
pro vyhledávání: '"Bonne, Gisèle"'
Publikováno v:
Cahiers de Myologie. jui2022, Issue 25, p40-41. 2p.
Akademický článek
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Autor:
Töpf, Ana, Pyle, Angela, Griffin, Helen, Matalonga, Leslie, Schon, Katherine, Sickmann, Albert, Schara–Schmidt, Ulrike, Hentschel, Andreas, Chinnery, Patrick F., Kölbel, Heike, Roos, Andreas, Horvath, Rita, Cohen, Enzo, Cuesta, Isabel, Danis, Daniel, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Gilissen, Christian, Johari, Mridul, Laurie, Steven, Li, Shuang, Nelson, Isabelle, Paramonov, Ida, Peters, Sophia, Prasanth, Sivakumar, Robinson, Peter, Sablauskas, Karolis, Savarese, Marco, Steyaert, Wouter, Van Der Velde, Joeri K., Vitobello, Antonio, Baets, Jonathan, Beijer, Danique, Bonne, Gisèle, Cossins, Judith, Evangelista, Teresinha, Ferlini, Alessandra, Hackman, Peter, Hanna, Michael G., Houlden, Henry, Lau, Jarred, Lochmüller, Hanns, Macken, William L., Musacchia, Francesco, Nascimento, Andres, Natera-De Benito, Daniel, Nigro, Vincenzo, Piluso, Giulio, Pini, Veronica, Pitceathly, Robert D. S., Polavarapu, Kiran, Cruz, Pedro M. Rodriguez, Sarkozy, Anna, Selvatici, Rita, Thompson, Rachel, Torella, Annalaura, Udd, Bjarne, Van De Vondel, Liedewei, Vandrovcova, Jana, Zaharieva, Irina
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2021, 29 (9), pp.1348-1353. ⟨10.1038/s41431-021-00851-8⟩
European Journal of Human Genetics, 29, 9, pp. 1348-1353
European Journal of Human Genetics, 29, 1348-1353
European Journal of Human Genetics, Nature Publishing Group, 2021, 29 (9), pp.1348-1353. ⟨10.1038/s41431-021-00851-8⟩
European Journal of Human Genetics, 29, 9, pp. 1348-1353
European Journal of Human Genetics, 29, 1348-1353
TRIP4 is one of the subunits of the transcriptional coregulator ASC-1, a ribonucleoprotein complex that participates in transcriptional coactivation and RNA processing events. Recessive variants in the TRIP4 gene have been associated with spinal musc
Autor:
Atalaia, Antonio, Thompson, Rachel, Corvo, Alberto, Carmody, Leigh, Piscia, Davide, Matalonga, Leslie, Macaya, Alfons, Lochmuller, Angela, Fontaine, Bertrand, Zurek, Birte, Hernandez-Ferrer, Carles, Rheinard, Carola, Gómez-Andrés, David, Desaphy, Jean-François, Schon, Katherine, Lohmann, Katja, Jennings, Matthew J., Synofzik, Matthis, Riess, Olaf, Yaou, Rabah Ben, Evangelista, Teresinha, Ratnaike, Thiloka, Bros-Facer, Virginie, Gumus, Gulcin, Horvath, Rita, Chinnery, Patrick, Laurie, Steven, Graessner, Holm, Robinson, Peter, Lochmuller, Hanns, Beltran, Sergi, Bonne, Gisèle
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Orphanet Journal of Rare Diseases, BioMed Central, 2020, 15 (1), pp.206. ⟨10.1186/s13023-020-01493-7⟩
Orphanet Journal of Rare Diseases, 2020, 15 (1), pp.206. ⟨10.1186/s13023-020-01493-7⟩
Orphanet journal of rare diseases 15(1), 206 (2020). doi:10.1186/s13023-020-01493-7
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Orphanet Journal of Rare Diseases, BioMed Central, 2020, 15 (1), pp.206. ⟨10.1186/s13023-020-01493-7⟩
Orphanet Journal of Rare Diseases, 2020, 15 (1), pp.206. ⟨10.1186/s13023-020-01493-7⟩
Orphanet journal of rare diseases 15(1), 206 (2020). doi:10.1186/s13023-020-01493-7
International audience; Background: Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis, with 25% of patients waiti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::cc7f00cbbb225328343abe25d10230c8
https://www.repository.cam.ac.uk/handle/1810/326124
https://www.repository.cam.ac.uk/handle/1810/326124
Autor:
Atalaia, A, Thompson, R, Corvo, A, Carmody, L, Piscia, D, Matalonga, L, Macaya, A, Lochmuller, A, Fontaine, B, Zurek, B, Hernandez-Ferrer, C, Rheinard, C, Gómez-Andrés, D, Schon, K, Lohmann, K, Jennings, M, Riess, O, Ben Yaou, R, Evangelista, T, Ratnaike, T, Bros-Facer, V, Gumus, G, Horvath, R, Chinnery, P, Laurie, S, Graessner, H, Robinson, P, Lochmuller, H, Beltran, S, Bonne, Gisèle
Publikováno v:
ESHG 2020.2-European Human Genetics Virtual Conference
ESHG 2020.2-European Human Genetics Virtual Conference, Jun 2020, Virtual conference, United Kingdom. Eur. J. Hum. Genet., 28 (Suppl 1), pp.P18.57.A, 2020
ESHG 2020.2-European Human Genetics Virtual Conference, Jun 2020, Virtual conference, United Kingdom. Eur. J. Hum. Genet., 28 (Suppl 1), pp.P18.57.A, 2020
International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::c774d881266db47712c6ba67ddf3cbda
https://hal.science/hal-03983888
https://hal.science/hal-03983888
Autor:
Bertrand, Anne T, Brull, Astrid, Azibani, Feriel, Benarroch, Louise, Chikhaoui, Khadija, Stewart, Colin L, Medalia, Ohad, Ben Yaou, Rabah, Bonne, Gisèle
Publikováno v:
Cells
Cells, 2020, ⟨10.3390/cells9040844⟩
Volume 9
Issue 4
Cells, Vol 9, Iss 844, p 844 (2020)
Cells, MDPI, 2020, ⟨10.3390/cells9040844⟩
Cells, 2020, ⟨10.3390/cells9040844⟩
Volume 9
Issue 4
Cells, Vol 9, Iss 844, p 844 (2020)
Cells, MDPI, 2020, ⟨10.3390/cells9040844⟩
LMNA encodes for Lamin A/C, type V intermediate filaments that polymerize under the inner nuclear membrane to form the nuclear lamina. A small fraction of Lamin A/C, less polymerized, is also found in the nucleoplasm. Lamin A/C functions include role
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::96c18630340eb1fed8c6e4bdb2924918
https://hal.science/hal-02527633
https://hal.science/hal-02527633
Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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Autor:
Gomez-Garcia de la Banda, M, Dabaj, I, Ben Yaou, R, Clarke, N, Nascimento, A, Benezit, A, Desguerre, I, Wahbi, K, Carlier, RY, Bonne, Gisèle, Quijano-Roy, S, Filière Nationale Des Maladies Rares Neuromusculaires, Filnemus
Publikováno v:
17èmes Journées annuelles de la Société Françasie de Myologie
17èmes Journées annuelles de la Société Françasie de Myologie, Nov 2019, Marseille, France
17èmes Journées annuelles de la Société Françasie de Myologie, Nov 2019, Marseille, France
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3515::12ee7d5a57d7479e0a7e24d43b3f2500
https://hal.science/hal-03986950
https://hal.science/hal-03986950