المؤلفون: Kour, S, Rajan, DS, Fortuna, TR, Anderson, EN, Ward, C, Lee, Y, Lee, S, Shin, YB, Chae, J-H, Choi, M, Siquier, K, Cantagrel, V, Amiel, J, Stolerman, ES, Barnett, SS, Cousin, MA, Castro, D, McDonald, K, Kirmse, B, Nemeth, AH, Rajasundaram, D, Innes, AM, Lynch, D, Frosk, P, Collins, A, Gibbons, M, Yang, M, Desguerre, I, Boddaert, N, Gitiaux, C, Rydning, SL, Selmer, KK, Urreizti, R, Garcia-Oguiza, A, Osorio, AN, Verdura, E, Pujol, A, McCurry, HR, Landers, JE, Agnihotri, S, Andriescu, EC, Moody, SB, Phornphutkul, C, Sacoto, MJG, Begtrup, A, Houlden, H, Kirschner, J, Schorling, D, Rudnik-Schöneborn, S, Strom, TM, Leiz, S, Juliette, K, Richardson, R, Yang, Y, Zhang, Y, Wang, M, Wang, J, Wang, X, Platzer, K, Donkervoort, S, Bönnemann, CG, Wagner, M, Issa, MY, Elbendary, HM, Stanley, V, Maroofian, R, Gleeson, JG, Zaki, MS, Senderek, J, Pandey, UB

المصدر: Nature Communications , 12 , Article 2558. (2021)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10127709/1/s41467-021-22627-w.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10127709Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10127709/1/s41467-021-22627-w.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10127709Test/

المؤلفون: Koo, C. H., Lee, J. S., Kim, M. W., Chang, Y. J., Noh, T. W., Chae, J. H. Jung B. G., Kim, H. -T.

مصطلحات موضوعية: Condensed Matter - Strongly Correlated Electrons

الوصول الحر: http://arxiv.org/abs/cond-mat/0508212Test

المؤلفون: Salpietro V., Dixon C. L., Guo H., Bello O. D., Vandrovcova J., Efthymiou S., Maroofian R., Heimer G., Burglen L., Valence S., Torti E., Hacke M., Rankin J., Tariq H., Colin E., Procaccio V., Striano P., Mankad K., Lieb A., Chen S., Pisani L., Bettencourt C., Mannikko R., Manole A., Brusco A., Grosso E., Ferrero G. B., Armstrong-Moron J., Gueden S., Bar-Yosef O., Tzadok M., Monaghan K. G., Santiago-Sim T., Person R. E., Cho M. T., Willaert R., Yoo Y., Chae J. -H., Quan Y., Wu H., Wang T., Bernier R. A., Xia K., Blesson A., Jain M., Motazacker M. M., Jaeger B., Schneider A. L., Boysen K., Muir A. M., Myers C. T., Gavrilova R. H., Gunderson L., Schultz-Rogers L., Klee E. W., Dyment D., Osmond M., Parellada M., Llorente C., Gonzalez-Penas J., Carracedo A., Van Haeringen A., Ruivenkamp C., Nava C., Heron D., Nardello R., Iacomino M., Minetti C., Skabar A., Fabretto A., Hanna M. G., Bugiardini E., Hostettler I., O'Callaghan B., Khan A., Cortese A., O'Connor E., Yau W. Y., Bourinaris T., Kaiyrzhanov R., Chelban V., Madej M., Diana M. C., Vari M. S., Pedemonte M., Bruno C., Balagura G., Scala M., Fiorillo C., Nobili L., Malintan N. T., Zanetti M. N., Krishnakumar S. S., Lignani G., Jepson J. E. C., Broda P., Baldassari S., Rossi P., Fruscione F., Madia F., Traverso M., De-Marco P., Perez-Duenas B., Munell F., Kriouile Y., El-Khorassani M., Karashova B., Avdjieva D., Kathom H., Tincheva R., Van-Maldergem L., Nachbauer W., Boesch S., Gagliano A., Amadori E., Goraya J. S., Sultan T., Kirmani S., Ibrahim S., Jan F., Mine J., Banu S., Veggiotti P., Zuccotti G. V., Ferrari M. D., Van Den Maagdenberg A. M. J., Verrotti A., Marseglia G. L., Savasta S., Soler M. A., Scuderi C., Borgione E., Chimenz R., Gitto E., Dipasquale V., Sallemi A., Fusco M., Cuppari C., Cutrupi M. C., Ruggieri M., Cama A., Capra V., Mencacci N. E., Boles R., Gupta N., Kabra M., Papacostas S., Zamba-Papanicolaou E., Dardiotis E., Maqbool S., Rana N., Atawneh O., Lim S. Y., Shaikh F., Koutsis G., Breza M., Coviello D. A., Dauvilliers Y. A., AlKhawaja I., AlKhawaja M., Al-Mutairi F., Stojkovic T., Ferrucci V., Zollo M., Alkuraya F. S., Kinali M., Sherifa H., Benrhouma H., Turki I. B. Y., Tazir M., Obeid M., Bakhtadze S., Saadi N. W., Zaki M. S., Triki C. C., Benfenati F., Gustincich S., Kara M., Belcastro V., Specchio N., Capovilla G., Karimiani E. G., Salih A. M., Okubadejo N. U., Ojo O. O., Oshinaike O. O., Oguntunde O., Wahab K., Bello A. H., Abubakar S., Obiabo Y., Nwazor E., Ekenze O., Williams U., Iyagba A., Taiwo L., Komolafe M., Senkevich K., Shashkin C., Zharkynbekova N., Koneyev K., Manizha G., Isrofilov M., Guliyeva U., Salayev K., Khachatryan S., Rossi S., Silvestri G., Haridy N., Ramenghi L. A., Xiromerisiou G., David E., Aguennouz M., Fidani L., Spanaki C., Tucci A., Raspall-Chaure M., Chez M., Tsai A., Fassi E., Shinawi M., Constantino J. N., De Zorzi R., Fortuna S., Kok F., Keren B., Bonneau D., Choi M., Benzeev B., Zara F., Mefford H. C., Scheffer I. E., Clayton-Smith J., Macaya A., Rothman J. E., Eichler E. E., Kullmann D. M., Houlden H.

المساهمون: Salpietro, V., Dixon, C. L., Guo, H., Bello, O. D., Vandrovcova, J., Efthymiou, S., Maroofian, R., Heimer, G., Burglen, L., Valence, S., Torti, E., Hacke, M., Rankin, J., Tariq, H., Colin, E., Procaccio, V., Striano, P., Mankad, K., Lieb, A., Chen, S., Pisani, L., Bettencourt, C., Mannikko, R., Manole, A., Brusco, A., Grosso, E., Ferrero, G. B., Armstrong-Moron, J., Gueden, S., Bar-Yosef, O., Tzadok, M., Monaghan, K. G., Santiago-Sim, T., Person, R. E., Cho, M. T., Willaert, R., Yoo, Y., Chae, J. -H., Quan, Y., Wu, H., Wang, T., Bernier, R. A., Xia, K., Blesson, A., Jain, M., Motazacker, M. M., Jaeger, B., Schneider, A. L., Boysen, K., Muir, A. M., Myers, C. T., Gavrilova, R. H., Gunderson, L., Schultz-Rogers, L., Klee, E. W., Dyment, D., Osmond, M., Parellada, M., Llorente, C., Gonzalez-Penas, J., Carracedo, A., Van Haeringen, A., Ruivenkamp, C., Nava, C., Heron, D., Nardello, R., Iacomino, M., Minetti, C., Skabar, A., Fabretto, A., Hanna, M. G., Bugiardini, E., Hostettler, I., O'Callaghan, B., Khan, A., Cortese, A., O'Connor, E., Yau, W. Y., Bourinaris, T., Kaiyrzhanov, R., Chelban, V., Madej, M., Diana, M. C., Vari, M. S., Pedemonte, M., Bruno, C., Balagura, G., Scala, M., Fiorillo, C., Nobili, L., Malintan, N. T., Zanetti, M. N., Krishnakumar, S. S., Lignani, G., Jepson, J. E. C., Broda, P., Baldassari, S., Rossi, P., Fruscione, F., Madia, F.

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000475295700001; volume:10; issue:1; firstpage:3094; journal:NATURE COMMUNICATIONS; https://hdl.handle.net/11390/1243137Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85068965744

الإتاحة: https://doi.org/10.1038/s41467-019-10910-wTest
https://hdl.handle.net/11390/1243137Test

المؤلفون: Salpietro, V, Dixon, CL, Guo, H, Bello, OD, Vandrovcova, J, Efthymiou, S, Maroofian, R, Heimer, G, Burglen, L, Valence, S, Torti, E, Hacke, M, Rankin, J, Tariq, H, Colin, E, Procaccio, V, Striano, P, Mankad, K, Lieb, A, Chen, S, Pisani, L, Bettencourt, C, Mannikko, R, Manole, A, Brusco, A, Grosso, E, Ferrero, GB, Armstrong-Moron, J, Gueden, S, Bar-Yosef, O, Tzadok, M, Monaghan, KG, Santiago-Sim, T, Person, RE, Cho, MT, Willaert, R, Yoo, Y, Chae, J-H, Quan, Y, Wu, H, Wang, T, Bernier, RA, Xia, K, Blesson, A, Jain, M, Motazacker, MM, Jaeger, B, Schneider, AL, Boysen, K, Muir, AM, Myers, CT, Gavrilova, RH, Gunderson, L, Schultz-Rogers, L, Klee, EW, Dyment, D, Osmond, M, Parellada, M, Llorente, C, Gonzalez-Penas, J, Carracedo, A, Van Haeringen, A, Ruivenkamp, C, Nava, C, Heron, D, Nardello, R, Iacomino, M, Minetti, C, Skabar, A, Fabretto, A, Chez, M, Tsai, A, Fassi, E, Shinawi, M, Constantino, JN, De Zorzi, R, Fortuna, S, Kok, F, Keren, B, Bonneau, D, Choi, M, Benzeev, B, Zara, F, Mefford, HC, Scheffer, IE, Clayton-Smith, J, Macaya, A, Rothman, JE, Eichler, EE, Kullmann, DM, Houlden, H, Raspall-Chaure, M, Hanna, MG, Bugiardini, E, Hostettler, I, O'Callaghan, B, Khan, A, Cortese, A, O'Connor, E, Yau, WY, Bourinaris, T, Kaiyrzhanov, R, Chelban, V, Madej, M, Diana, MC, Vari, MS, Pedemonte, M, Bruno, C, Balagura, G, Scala, M, Fiorillo, C, Nobili, L, Malintan, NT, Zanetti, MN, Krishnakumar, SS, Lignani, G, Jepson, JEC, Broda, P, Baldassari, S, Rossi, P, Fruscione, F, Madia, F, Traverso, M, De-Marco, P, Perez-Duenas, B, Munell, F, Kriouile, Y, El-Khorassani, M, Karashova, B, Avdjieva, D, Kathom, H, Tincheva, R, Van-Maldergem, L, Nachbauer, W, Boesch, S, Gagliano, A, Amadori, E, Goraya, JS, Sultan, T, Kirmani, S, Ibrahim, S, Jan, F, Mine, J, Banu, S, Veggiotti, P, Zuccotti, G, Ferrari, MD, Van Den Maagdenberg, AMJ, Verrotti, A, Marseglia, GL, Savasta, S, Soler, MA, Scuderi, C, Borgione, E, Chimenz, R, Gitto, E, Dipasquale, V, Sallemi, A, Fusco, M, Cuppari, C, Cutrupi, MC, Ruggieri, M, Cama, A, Capra, V, Mencacci, NE, Boles, R, Gupta, N, Kabra, M, Papacostas, S, Zamba-Papanicolaou, E, Dardiotis, E, Maqbool, S, Rana, N, Atawneh, O, Lim, SY, Shaikh, F, Koutsis, G, Breza, M, Coviello, DA, Dauvilliers, YA, AlKhawaja, I, AlKhawaja, M, Al-Mutairi, F, Stojkovic, T, Ferrucci, V, Zollo, M, Alkuraya, FS, Kinali, M, Sherifa, H, Benrhouma, H, Turki, IBY, Tazir, M, Obeid, M, Bakhtadze, S, Saadi, NW, Zaki, MS, Triki, CC, Benfenati, F, Gustincich, S, Kara, M, Belcastro, V, Specchio, N, Capovilla, G, Karimiani, EG, Salih, AM, Okubadejo, NU, Ojo, OO, Oshinaike, OO, Oguntunde, O, Wahab, K, Bello, AH, Abubakar, S, Obiabo, Y, Nwazor, E, Ekenze, O, Williams, U, Iyagba, A, Taiwo, L, Komolafe, M, Senkevich, K, Shashkin, C, Zharkynbekova, N, Koneyev, K, Manizha, G, Isrofilov, M, Guliyeva, U, Salayev, K, Khachatryan, S, Rossi, S, Silvestri, G, Haridy, N, Ramenghi, LA, Xiromerisiou, G, David, E, Aguennouz, M, Fidani, L, Spanaki, C, Tucci, A

العلاقة: pii: 10.1038/s41467-019-10910-w; Salpietro, V., Dixon, C. L., Guo, H., Bello, O. D., Vandrovcova, J., Efthymiou, S., Maroofian, R., Heimer, G., Burglen, L., Valence, S., Torti, E., Hacke, M., Rankin, J., Tariq, H., Colin, E., Procaccio, V., Striano, P., Mankad, K., Lieb, A. ,. Tucci, A. (2019). AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. NATURE COMMUNICATIONS, 10 (1), https://doi.org/10.1038/s41467-019-10910-wTest.; http://hdl.handle.net/11343/246204Test

الإتاحة: https://doi.org/10.1038/s41467-019-10910-wTest
http://hdl.handle.net/11343/246204Test

المؤلفون: Wu, D. L., Chae, J. H., Lambert, A., Zhang, F. F.

المصدر: eISSN: 1680-7324

وصف الملف: application/pdf

العلاقة: https://acp.copernicus.org/articles/11/2641/2011Test/

الإتاحة: https://doi.org/10.5194/acp-11-2641-2011Test
https://acp.copernicus.org/articles/11/2641/2011Test/

المؤلفون: Chae, J. H., Wu, D. L., Read, W. G., Sherwood, S. C.

المصدر: eISSN: 1680-7324

وصف الملف: application/pdf

العلاقة: https://acp.copernicus.org/articles/11/3811/2011Test/

الإتاحة: https://doi.org/10.5194/acp-11-3811-2011Test
https://acp.copernicus.org/articles/11/3811/2011Test/

المؤلفون: Lambert, A., Santee, M. L., Wu, D. L., Chae, J. H.

المصدر: eISSN: 1680-7324

وصف الملف: application/pdf

العلاقة: https://acp.copernicus.org/articles/12/2899/2012Test/

الإتاحة: https://doi.org/10.5194/acp-12-2899-2012Test
https://acp.copernicus.org/articles/12/2899/2012Test/

المؤلفون: Goemans, Nathalie, Mercuri, Eugenio, Belousova, Elena, Komaki, Hirofumi, Dubrovsky, Alberto, McDonald, Craig M., Kraus, John E., Lourbakos, Afrodite, Lin, Zhengning, Campion, Giles, Wang, Susanne X., Campbell, Craig, Araujo, A., Bertini, E., Born, P., Cances, C., Chabrol, B., Chae, J.-H., Colomer Oferil, J., Comi, G.P., Cuisset, J.-M., D'Anjou, G., Desguerre, I., Erazo Torricelli, R., Escobar, R., Feder, D., Ferlini, A., Giugliani, R., Henricson, E., Herczegfalvi, A., Jong, Y.-J., Kimura, S., Kirschner, J.-B., Kleinsteuber, K., Kostera-Pruszczyk, A., Kudr, M., Mueller-Felber, W., Niks, E.H., Ogata, K., Palermo, C., Pane, M., Pascual, I., Pereon, Y., Raskin, S., Rasmussen, M., Reed, U., Schara, U., Selby, K., Sobreira, C., Takeshima, Y.

المساهمون: BioMarin Pharmaceutical

المصدر: Neuromuscular Disorders ; volume 28, issue 1, page 4-15 ; ISSN 0960-8966

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

الإتاحة: https://doi.org/10.1016Test/j.nmd.2017.10.004
https://api.elsevier.com/content/article/PII:S0960896617302006?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896617302006?httpAccept=text/plainTest

المؤلفون: Conrado D. J., Larkindale J., Berg A., Hill M., Burton J., Abrams K. R., Abresch R. T., Bronson A., Chapman D., Crowther M., Duong T., Gordish-Dressman H., Harnisch L., Henricson E., Kim S., McDonald C. M., Schmidt S., Vong C., Wang X., Wong B. L., Yong F., Romero K., Vishwanathan V., Chidambaranathan S., Douglas Biggar W., McAdam L. C., Mah J. K., Tulinius M., Cnaan A., Morgenroth L. P., Leshner R., Tesi-Rocha C., Thangarajh M., Kornberg A., Ryan M., Nevo Y., Dubrovsky A., Clemens P. R., Abdel-Hamid H., Connolly A. M., Pestronk A., Teasley J., Bertorini T. E., Webster R., Kolski H., Kuntz N., Driscoll S., Bodensteiner J. B., Gorni K., Lotze T., Day J. W., Karachunski P., Henricson E. K., Joyce N. C., Campbell C., Torricelli R. E., Finkel R. S., Flanigan K. M., Goemans N., Heydemann P., Kaminska A., Kirschner J., Muntoni F., Osorio A. N., Schara U., Sejersen T., Shieh P. B., Sweeney H. L., Topaloglu H., Vilchez J. J., Voit T., Wong B., Alfano L. N., Eagle M., James M. K., Lowes L., Mayhew A., Mazzone E. S., Nelson L., Rose K. J., Abdel-Hamid H. Z., Apkon S. D., Barohn R. J., Bertini E., Bloetzer C., deVaud L. C., Butterfield R. J., Chabrol B., Chae J. H., Comi G. P., Darras B. T., Dastgir J., Desguerre I., Escobar R. G., Finanger E., Guglieri M., Hughes I., Iannaccone S. T., Jones K. J., Kudr M., Mathews K., Parsons J., Pereon Y., de Queiroz Campos Araujo A. P., Renfroe J. B., de Resende M. B. D., Selby K., Tennekoon G., Vita G., Apkon S., Barohn R., Belousova E., Brandsema J., Bruno C., Burnette W., Butterfield R., Byrne B., Carlo J., Chandratre S., Comi G., Connolly A., De Groot I I., Deconinck N., Dooley J., Durigneux J., Finkel R., Frank L. M., Harper A., Hattori A., Herguner O., Iannaccone S., Janas J., Jong Y. J., Komaki H., Lee W. T., Leung E., Mah J., Mercuri E., McMillan H., Mueller-Felber W., de Munain A L., Nakamura A., Niks E., Ogata K., Pascual S., Pegoraro E., Renfroe B., Sanka R. B., Schallner J., Sendra I. I., Servais L., Smith E., Sparks S., Victor R., Wicklund M., Wilichoswki E., Carter G. T.

المساهمون: Conrado, D. J., Larkindale, J., Berg, A., Hill, M., Burton, J., Abrams, K. R., Abresch, R. T., Bronson, A., Chapman, D., Crowther, M., Duong, T., Gordish-Dressman, H., Harnisch, L., Henricson, E., Kim, S., Mcdonald, C. M., Schmidt, S., Vong, C., Wang, X., Wong, B. L., Yong, F., Romero, K., Vishwanathan, V., Chidambaranathan, S., Douglas Biggar, W., Mcadam, L. C., Mah, J. K., Tulinius, M., Cnaan, A., Morgenroth, L. P., Leshner, R., Tesi-Rocha, C., Thangarajh, M., Kornberg, A., Ryan, M., Nevo, Y., Dubrovsky, A., Clemens, P. R., Abdel-Hamid, H., Connolly, A. M., Pestronk, A., Teasley, J., Bertorini, T. E., Webster, R., Kolski, H., Kuntz, N., Driscoll, S., Bodensteiner, J. B., Gorni, K., Lotze, T., Day, J. W., Karachunski, P., Henricson, E. K., Joyce, N. C., Campbell, C., Torricelli, R. E., Finkel, R. S., Flanigan, K. M., Goemans, N., Heydemann, P., Kaminska, A., Kirschner, J., Muntoni, F., Osorio, A. N., Schara, U., Sejersen, T., Shieh, P. B., Sweeney, H. L., Topaloglu, H., Vilchez, J. J., Voit, T., Wong, B., Alfano, L. N., Eagle, M., James, M. K., Lowes, L., Mayhew, A., Mazzone, E. S., Nelson, L., Rose, K. J., Abdel-Hamid, H. Z., Apkon, S. D., Barohn, R. J., Bertini, E., Bloetzer, C., Devaud, L. C., Butterfield, R. J., Chabrol, B., Chae, J. H., Comi, G. P., Darras, B. T., Dastgir, J., Desguerre, I., Escobar, R. G., Finanger, E., Guglieri, M., Hughes, I., Iannaccone, S. T.

مصطلحات موضوعية: Drug development tool, Duchenne muscular dystrophy consortium (D-RSC), Model-informed drug development, Rare disease, Regulatory endorsement, Clinical Trials as Topic, Computer Simulation, Human, Muscular Dystrophy, Duchenne, Orphan Drug Production, United State, United States Food and Drug Administration, Models, Biological

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31127458; info:eu-repo/semantics/altIdentifier/wos/WOS:000509687600007; volume:46; issue:5; firstpage:441; lastpage:455; numberofpages:15; journal:JOURNAL OF PHARMACOKINETICS AND PHARMACODYNAMICS; http://hdl.handle.net/11577/3395072Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85066886701

الإتاحة: https://doi.org/10.1007/s10928-019-09642-7Test
http://hdl.handle.net/11577/3395072Test

المؤلفون: Lambert, A., Santee, M. L., Wu, D. L., Chae, J. H.

مصطلحات موضوعية: article, Verlagsveröffentlichung

وصف الملف: electronic

العلاقة: Atmospheric Chemistry and Physics -- http://www.atmos-chem-phys.net/volumes_and_issues.htmlTest -- http://www.bibliothek.uni-regensburg.de/ezeit/?2069847Test -- 1680-7324; https://doi.org/10.5194/acp-12-2899-2012Test; https://noa.gwlb.de/receive/cop_mods_00046081Test; https://noa.gwlb.de/servlets/MCRFileNodeServlet/cop_derivate_00045701/acp-12-2899-2012.pdfTest; https://acp.copernicus.org/articles/12/2899/2012/acp-12-2899-2012.pdfTest

الإتاحة: https://doi.org/10.5194/acp-12-2899-2012Test
https://noa.gwlb.de/receive/cop_mods_00046081Test
https://noa.gwlb.de/servlets/MCRFileNodeServlet/cop_derivate_00045701/acp-12-2899-2012.pdfTest
https://acp.copernicus.org/articles/12/2899/2012/acp-12-2899-2012.pdfTest