المؤلفون: Richard, M., Barrois, R., Desguerre, I., Deladrière, E., Leloup-Germa, V., Barnerias, C., Gitiaux, C.

المصدر: Archives de Pédiatrie ; volume 31, issue 1, page 26-31 ; ISSN 0929-693X

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.arcped.2023.08.011Test
https://api.elsevier.com/content/article/PII:S0929693X23001720?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0929693X23001720?httpAccept=text/plainTest

المؤلفون: Porcher, R., Desguerre, I., Amthor, H., Chabrol, B., Audic, F., Rivier, F., Isapof, A., Tiffreau, Vincent, Campana-Salort, E., Leturcq, F., Tuffery-Giraud, S., Ben Yaou, R., Annane, D., Amédro, P., Barnerias, C., Bécane, H. M., Béhin, A., Bonnet, D., Bassez, G., Cossée, M., De La Villéon, G., Delcourte, C., Fayssoil, A., Fontaine, B., Godart, F., Guillaumont, S., Jaillette, E., Laforêt, P., Leonard-Louis, S., Lofaso, F., Mayer, M., Morales, R. J., Meune, C., Orlikowski, D., Ovaert, C., Prigent, H., Saadi, M., Sochala, M., Tard, Celine, Vaksmann, G., Walther-Louvier, U., Eymard, B., Stojkovic, T., Ravaud, P., Duboc, D., Wahbi, K.

المساهمون: Université de Lille, Univ. Artois, Univ. Littoral Côte d’Opale, Unité de Recherche Pluridisciplinaire Sport, Santé, Société (URePSSS) - ULR 7369 - ULR 4488 URePSSS

مصطلحات موضوعية: Duchenne muscular dystrophy, Cardiomyopathy, Heart failure, Angiotensin-converting enzyme inhibitors

وصف الملف: application/octet-stream

العلاقة: European Heart Journal; Eur Heart J; http://hdl.handle.net/20.500.12210/82213Test

الإتاحة: https://doi.org/20.500.12210/82213Test
https://hdl.handle.net/20.500.12210/82213Test

المؤلفون: Barrois, R., Barnerias, C., Deladrière, E., Leloup-Germa, V., Tervil, B., Audic, F., Boulay, C., Cances, C., Cintas, P., Davion, J.B., Espil-Taris, C., Manel, V., Pereon, Y., Piarroux, J., Quijano Roy, S., Vuillerot, C., Walther-Louvier, U., Desguerre, I., Gitiaux, C.

المصدر: Neuromuscular Disorders ; volume 33, issue 4, page 309-314 ; ISSN 0960-8966

مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.nmd.2023.02.004Test
https://api.elsevier.com/content/article/PII:S096089662300024X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S096089662300024X?httpAccept=text/plainTest

المؤلفون: Prud’homme, L., Gitiaux, C., Barnerias, C., Orssaud, C., Bremond-Gignac, D., Robert, M.P.

المساهمون: Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (CHNO), Sorbonne Université (SU), Service d'ophtalmologie CHU Necker, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de neurologie pédiatrique CHU Necker, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Hôpital Necker - Enfants Malades AP-HP, Centre de référence des Maladies Rares en Ophtalmologie CHU HEGP (OPHTARA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Européen Georges Pompidou APHP (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), École Pratique des Hautes Études (EPHE), Université Paris Sciences et Lettres (PSL)-Université Paris Sciences et Lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université Paris Cité (UPCité)

المصدر: ISSN: 0181-5512.

مصطلحات موضوعية: Myasthenia, Pediatrics, Ptosis, Strabismus, Myasthénie, Pédiatrie, Strabisme, [SDV.MHEP.OS]Life Sciences [q-bio]/Human health and pathology/Sensory Organs

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38723375; hal-04585573; https://u-paris.hal.science/hal-04585573Test; PUBMED: 38723375

الإتاحة: https://doi.org/10.1016/j.jfo.2024.104202Test
https://u-paris.hal.science/hal-04585573Test

المؤلفون: Torelli, S, Scaglioni, D, Sardone, V, Ellis, MJ, Domingos, J, Jones, A, Feng, L, Chambers, D, Eastwood, DM, Leturcq, F, Yaou, RB, Urtizberea, A, Sabouraud, P, Barnerias, C, Stojkovic, T, Ricci, E, Beuvin, M, Bonne, G, Sewry, CA, Willis, T, Kulshrestha, R, Tasca, G, Phadke, R, Morgan, JE, Muntoni, F

المصدر: Journal of Neuropathology & Experimental Neurology , Article nlab088. (2021) (In press).

مصطلحات موضوعية: Becker muscular dystrophy, Duchenne muscular dystrophy, Dystrophin, High–throughput digital analysis, Muscle biopsy, Skeletal muscle

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10135860/7/Torelli_nlab088.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10135860Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10135860/7/Torelli_nlab088.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10135860Test/

المؤلفون: Quijano-Roy, S., Gaume, M., Saudeau, E., de la Banda, M. Gomez-Garcia, Azzi-Salameh, V., Mbieleu, B., Verollet, D., Barnerias, C., Benezit, A., Dabaj, I., Essid, A., Doehring, I., Amthor, H., Oulhissane, A., Carlier, R., Desguerre, I., Bergounioux, J., Glorion, C., Miladi, L.

المصدر: Neuromuscular Disorders ; volume 31, page S126 ; ISSN 0960-8966

مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.nmd.2021.07.277Test
https://api.elsevier.com/content/article/PII:S0960896621004648?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896621004648?httpAccept=text/plainTest

المؤلفون: Metay, C., Jobic, V., Isapof, A., Cuisset, J., Barnerias, C., Whalen, S., Demurger, F., Melki, J., Jobic, F., Afenjar, A., Desguerre, I., Benistan, K., Elaribi, Y., Ferreiro, A., Laugel, V., Nougues, M., Benezit, A., Davion, J., Quijano, S., Richard, P.

المصدر: Neuromuscular Disorders ; volume 31, page S67 ; ISSN 0960-8966

مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.nmd.2021.07.084Test
https://api.elsevier.com/content/article/PII:S0960896621002716?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896621002716?httpAccept=text/plainTest

المؤلفون: de la Banda, M. Gomez Garcia, Grimaldi-Bensouda, L., Urtizberea, J., Behin, A., Vuillerot, C., Saugier-Veber, P., Audic, F., Barnerias, C., Cances, C., Campana-Salort, E., Espil, C., Laforet, P., Laugel, V., Pereon, Y., Sacconi, S., Stojkovic, T., Tard, C., Chabrol, B., Desguerre, I., Quijano-Roy, S.

المصدر: Neuromuscular Disorders ; volume 31, page S130-S131 ; ISSN 0960-8966

مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.nmd.2021.07.292Test
https://api.elsevier.com/content/article/PII:S096089662100479X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S096089662100479X?httpAccept=text/plainTest

المؤلفون: Dangles, M.-T., Malan, V., Dumas, G., Romana, S., Raoul, O., Coste-Zeitoun, D., Soufflet, C., Vignolo-Diard, P., Bahi-Buisson, N., Barnérias, C., Chemaly, N., Desguerre, I., Gitiaux, C., Hully, M., Bourgeois, M., Guimier, A., Rio, M., Munnich, A., Nabbout, R., Kaminska, A., Eisermann, M.

المصدر: Clinical Neurophysiology ; volume 132, issue 5, page 1126-1137 ; ISSN 1388-2457

مصطلحات موضوعية: Physiology (medical), Neurology (clinical), Neurology, Sensory Systems

الإتاحة: https://doi.org/10.1016/j.clinph.2021.02.010Test
https://api.elsevier.com/content/article/PII:S1388245721000742?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1388245721000742?httpAccept=text/plainTest

المؤلفون: Mercuri, E, Muntoni, F, Osorio, AN, Tulinius, M, Buccella, F, Morgenroth, LP, Gordish-Dressman, H, Jiang, J, Trifillis, P, Zhu, L, Kristensen, A, Santos, CL, Henricson, EK, McDonald, CM, Desguerre, I, Bernert, G, Gosk-Tomek, M, Ille, A, Kellersmann, A, Weiss, S, Pilshofer, V, Balintova, Z, Danhofer, P, Fabulova, P, Jurikova, L, Fuchsova, P, Haberlova, J, Laffargue, F, Sarret, C, Pontier, B, Bellance, R, Sarrazin, E, Sabouraud, P, Magot, A, Mercier, S, Pereon, Y, Cuisset, JM, Coopman-Degryse, S, Enaud, E, Jacquemont, ML, Perville, A, Renouil, M, Trommsdorff, V, Verheulpen, D, Fontaine-Carbonnel, S, Vuillerot, C, Peudenier, S, Ropars, J, Audic, F, Chabrol, B, Chabrier, S, Gousse, G, Lagrue, E, Aragon, K, Barnerias, C, Brande, LV, De Lucia, S, Gidaro, T, Seferian, A, Servais, L, Laugel, V, Espil-Taris, C, Mecili, H, Raffo, E, Ragot-Mandry, S, Borrell, S, Kirschner, J, Gangfuss, A, Henrich, M, Kolbel, H, Schara, U, Sponemann, N, Temme, E, Seeger, J, Hirsch, A, Denecke, J, Johannsen, J, Neu, A, Osinski, D, Rugner, S, Schussler, S, Trollmann, R, Kaindl, A, Schneider, JB, Stoltenburg, C, Weiss, C, Schreiber, G, Hahn, A, Grzybowski, M, Pavlidou, E, Pavlou, E, Dobner, S, Liptai, Z, Dor, T, Brogna, C, Catteruccia, M, D'Amico, A, Pane, M, Bello, L, Pegoraro, E, Semplicini, C, Albamonte, E, Baranello, G, Comi, G, Govoni, A, Lerario, A, Magri, F, Masson, R, Mauri, E, Sansone, V, Brusa, C, Mongini, T, Ricci, F, Vacchetti, M, Bruno, C, Paniucci, C, Pedemonte, M, Giannotta, M, Pini, A, Messina, S, Sframeli, M, Vita, G, Ruggiero, L, Santoro, L, Craiu, D, Motoescu, C, Sandu, C, Teleanu, R, Vasile, D, Hughes, I, Childs, AM, Alhaswani, Z, Roper, H, Parasuraman, D, DeGoede, C, Gowda, V, Manzur, A, Munot, P, Sarkokzy, A, Charlesworth, C, Lemon, J, Turner, L, Spinty, S, Dubrovsky, A, Kornberg, A, Ryan, M, Webster, R, Biggar, WD, McAdam, LC, Mah, JK, Kolski, H, Vishwanathan, V, Chidambaranathan, S, Nevo, Y, Gorni, K, Carlo, J, Abresch, RT, Joyce, NC, Cnaan, A, Leshner, R, Tesi-Rocha, C, Thangarajh, M, Duong, T, Clemens, PR, Abdel-Hamid, H, Connolly, AM, Pestronk, A, Teasley, J, Harper, A, Bertorini, TE, Kuntz, N, Driscoll, S, Day, JW, Karachunski, P, Lotze, T

المساهمون: E. Mercuri, F. Muntoni, A. Osorio, M. Tuliniu, F. Buccella, L. Morgenroth, H. Gordish-Dressman, J. Jiang, P. Trifilli, L. Zhu, A. Kristensen, C. Santo, E. Henricson, C. Mcdonald, I. Desguerre, G. Bernert, M. Gosk-Tomek, A. Ille, A. Kellersmann, S. Wei, V. Pilshofer, Z. Balintova, P. Danhofer, P. Fabulova, L. Jurikova, P. Fuchsova, J. Haberlova, F. Laffargue, C. Sarret, B. Pontier, R. Bellance, E. Sarrazin, P. Sabouraud, A. Magot, S. Mercier, Y. Pereon, J. Cuisset, S. Coopman-Degryse, E. Enaud, M. Jacquemont, A. Perville, M. Renouil, V. Trommsdorff, D. Verheulpen, S. Fontaine-Carbonnel, C. Vuillerot, S. Peudenier, J. Ropar, F. Audic, B. Chabrol, S. Chabrier, G. Gousse, E. Lagrue, K. Aragon, C. Barneria, L. Brande, S. De Lucia, T. Gidaro, A. Seferian, L. Servai, V. Laugel, C. Espil-Tari, H. Mecili, E. Raffo, S. Ragot-Mandry, S. Borrell, J. Kirschner, A. Gangfu, M. Henrich, H. Kolbel, U. Schara, N. Sponemann, E. Temme, J. Seeger, A. Hirsch, J. Denecke, J. Johannsen, A. Neu, D. Osinski, S. Rugner, S. Schussler, R. Trollmann, A. Kaindl, J. Schneider, C. Stoltenburg, C. Wei, G. Schreiber, A. Hahn, M. Grzybowski, E. Pavlidou, E. Pavlou, S. Dobner, Z. Liptai, T. Dor, C. Brogna, M. Catteruccia, A. D'Amico, M. Pane

مصطلحات موضوعية: ataluren, dystrophin, effectivene, nonsense mutation Duchenne muscular dystrophy, safety, STRIDE Registry, Settore MED/26 - Neurologia

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000533276600004; volume:9; issue:5; firstpage:341; lastpage:360; numberofpages:20; journal:JOURNAL OF COMPARATIVE EFFECTIVENESS RESEARCH; http://hdl.handle.net/2434/853343Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85081222196

الإتاحة: https://doi.org/10.2217/cer-2019-0171Test
http://hdl.handle.net/2434/853343Test