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1دورية أكاديمية
المؤلفون: Broadway-Stringer, S, Jiang, H, Wadmore, K, Hooper, C, Douglas, G, Steeples, V, Azad, A, Singer, E, Rayet, J, Galatik, F, Ehler, E, Bennett, P, Kalisch-Smith, J, Sparrow, D, Davies, B, Djinovic-Carugo, K, Gautel, M, Watkins, H, Gehmlich, K
العلاقة: https://ora.ox.ac.uk/objects/uuid:ab2f9b01-bda2-4b41-b85d-a5d2b0d7fc0aTest; https://doi.org/10.3390/cells12050721Test
الإتاحة: https://doi.org/10.3390/cells12050721Test
https://ora.ox.ac.uk/objects/uuid:ab2f9b01-bda2-4b41-b85d-a5d2b0d7fc0aTest -
2دورية أكاديمية
المؤلفون: Weston, TGR, Rees, M, Gautel, M, Fraternali, F
المصدر: WIREs Mechanisms of Disease , Article e1638. (2023) (In press).
مصطلحات موضوعية: disease, missense variant, protein, sarcomere, titin
وصف الملف: application/pdf
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10185788/1/Walking%20with%20giants%20%20The%20challenges%20of%20variant%20impact%20assessment.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10185788Test/
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3دورية أكاديمية
المؤلفون: Klionsky, DJ, Abdalla, FC, Abeliovich, H, Abraham, RT, Acevedo-Arozena, A, Adeli, K, Agholme, L, Agnello, M, Agostinis, P, Aguirre-Ghiso, JA, Ahn, HJ, Ait-Mohamed, O, Ait-Si-Ali, S, Akematsu, T, Akira, S, Al-Younes, HM, Al-Zeer, MA, Albert, ML, Albin, RL, Alegre-Abarrategui, J, Aleo, MF, Alirezaei, M, Almasan, A, Almonte-Becerril, M, Amano, A, Amaravadi, R, Amarnath, S, Amer, AO, Andrieu-Abadie, N, Anantharam, V, Ann, DK, Anoopkumar-Dukie, S, Aoki, H, Apostolova, N, Arancia, G, Aris, JP, Asanuma, K, Asare, NYO, Ashida, H, Askanas, V, Askew, DS, Auberger, P, Baba, M, Backues, SK, Baehrecke, EH, Bahr, BA, Bai, XY, Bailly, Y, Baiocchi, R, Baldini, G, Balduini, W, Ballabio, A, Bamber, BA, Bampton, ETW, Banhegyi, G, Bartholomew, CR, Bassham, DC, Bast, RC, Batoko, H, Bay, BH, Beau, I, Bechet, DM, Begley, TJ, Behl, C, Behrends, C, Bekri, S, Bellaire, B, Bendall, LJ, Benetti, L, Berliocchi, L, Bernardi, H, Bernassola, F, Besteiro, S, Bhatia-Kissova, I, Bi, XN, Biard-Piechaczyk, M, Blum, JS, Boise, LH, Bonaldo, P, Boone, DL, Bornhauser, BC, Bortoluci, KR, Bossis, I, Bost, F, Bourquin, JP, Boya, P, Boyer-Guittaut, M, Bozhkov, PV, Brady, NR, Brancolini, C, Brech, A, Brenman, JE, Brennand, A, Bresnick, EH, Brest, P, Bridges, D, Bristol, ML, Brookes, PS, Brown, EJ, Brumell, JH, Brunetti-Pierri, N, Brunk, UT, Bulman, DE, Bultman, SJ, Bultynck, G, Burbulla, LF, Bursch, W, Butchar, JP, Buzgariu, W, Bydlowski, SP, Cadwell, K, Cahova, M, Cai, DS, Cai, JY, Cai, Q, Calabretta, B, Calvo-Garrido, J, Camougrand, N, Campanella, M, Campos-Salinas, J, Candi, E, Cao, LZ, Caplan, AB, Carding, SR, Cardoso, SM, Carew, JS, Carlin, CR, Carmignac, V, Carneiro, LAM, Carra, S, Caruso, RA, Casari, G, Casas, C, Castino, R, Cebollero, E, Cecconi, F, Celli, J, Chaachouay, H, Chae, HJ, Chai, CY, Chan, DC, Chan, EY, Chang, RCC, Che, CM, Chen, CC, Chen, GC, Chen, GQ, Chen, M, Chen, Q, Chen, SSL, Chen, WL, Chen, X, Chen, XM, Chen, XQ, Chen, YG, Chen, YY, Chen, YQ, Chen, YJ, Chen, ZX, Cheng, A, Cheng, CHK, Cheng, Y, Cheong, H, Cheong, JH, Cherry, S, Chess-Williams, R, Cheung, ZH, Chevet, E, Chiang, HL, Chiarelli, R, Chiba, T, Chin, LS, Chiou, SH, Chisari, FV, Cho, CH, Cho, DH, Choi, AMK, Choi, D, Choi, KS, Choi, ME, Chouaib, S, Choubey, D, Choubey, V, Chu, CT, Chuang, TH, Chueh, SH, Chun, T, Chwae, YJ, Chye, ML, Ciarcia, R, Ciriolo, MR, Clague, MJ, Clark, RSB, Clarke, PGH, Clarke, R, Codogno, P, Coller, HA, Colombo, MI, Comincini, S, Condello, M, Condorelli, F, Cookson, MR, Coppens, GHCI, Corbalan, R, Cossart, P, Costelli, P, Costes, S, Coto-Montes, A, Couve, E, Coxon, FP, Cregg, JM, Crespo, JL, Cronje, MJ, Cuervo, AM, Cullen, JJ, Czaja, MJ, D'Amelio, M, Darfeuille-Michaud, A, Davids, LM, Davies, FE, De Felici, M, de Groot, JF, de Haan, CAM, De Martino, L, De Milito, A, De Tata, V, Debnath, J, Degterev, A, Dehay, B, Delbridge, LMD, Demarchi, F, Deng, YZ, Dengjel, J, Dent, P, Denton, D, Deretic, V, Desai, SD, Devenish, RJ, Di Gioacchino, M, Di Paolo, G, Di Pietro, C, Diaz-Araya, G, Diaz-Laviada, I, Diaz-Meco, MT, Diaz-Nido, J, Dikic, I, Dinesh-Kumar, SP, Ding, WX, Distelhorst, CW, Diwan, A, Djavaheri-Mergny, M, Dokudovskaya, S, Dong, Z, Dorsey, FC, Dosenko, V, Dowling, JJ, Doxsey, S, Dreux, M, Drew, ME, Duan, QH, Duchosal, MA, Duff, K, Dugail, I, Durbeej, M, Duszenko, M, Edelstein, CL, Edinger, AL, Egea, G, Eichinger, L, Eissa, NT, Ekmekcioglu, S, El-Deiry, WS, Elazar, Z, Elgendy, M, Ellerby, LM, Eng, KE, Engelbrecht, AM, Engelender, S, Erenpreisa, J, Escalante, R, Esclatine, A, Eskelinen, EL, Espert, L, Espina, V, Fan, HZ, Fan, J, Fan, QW, Fan, Z, Fang, SY, Fang, YQ, Fanto, M, Fanzani, A, Farkas, T, Farre, JC, Faure, M, Fechheimer, M, Feng, CG, Feng, J, Feng, QL, Feng, YJ, Fesus, L, Feuer, R, Figueiredo-Pereira, ME, Fimia, GM, Fingar, DC, Finkbeiner, S, Finkel, T, Finley, KD, Fiorito, F, Fisher, EA, Fisher, PB, Flajolet, M, Florez-McClure, ML, Florio, S, Fon, EA, Fornai, F, Fortunato, F, Fotedar, R, Fowler, DH, Fox, HS, Franco, R, Frankel, LB, Fransen, M, Fuentes, JM, Fueyo, J, Fujii, J, Fujisaki, K, Fujita, E, Fukuda, M, Furukawa, RH, Gaestel, M, Gailly, P, Gajewska, M, Galliot, B, Galy, V, Ganesh, S, Ganetzky, B, Ganley, IG, Gao, FB, Gao, GF, Gao, JM, Garcia, L, Garcia-Manero, G, Garcia-Marcos, M, Garmyn, M, Gartel, AL, Gatti, E, Gautel, M, Gawriluk, TR, Gegg, ME, Geng, JF, Germain, M, Gestwicki, JE, Gewirtz, DA, Ghavami, S, Ghosh, P, Giammarioli, AM, Giatromanolaki, AN, Gibson, SB, Gilkerson, RW, Ginger, ML, Ginsberg, HN, Golab, J, Goligorsky, MS, Golstein, P, Gomez-Manzano, C, Goncu, E, Gongora, C, Gonzalez, CD, Gonzalez, R, Gonzalez-Estevez, C, Gonzalez-Polo, RA, Gonzalez-Rey, E, Gorbunov, NV, Gorski, S, Goruppi, S, Gottlieb, RA, Gozuacik, D, Granato, GE, Grant, GD, Green, KN, Gregorc, A, Gros, F, Grose, C, Grunt, TW, Gual, P, Guan, JL, Guan, KL, Guichard, SM, Gukovskaya, AS, Gukovsky, I, Gunst, J, Gustafsson, AB, Halayko, AJ, Hale, AN, Halonen, SK, Hamasaki, M, Han, F, Han, T, Hancock, MK, Hansen, M, Harada, H, Harada, M, Hardt, SE, Harper, JW, Harris, AL, Harris, J, Harris, SD, Hashimoto, M, Haspel, JA, Hayashi, S, Hazelhurst, LA, He, CC, He, YW, Hebert, MJ, Heidenreich, KA, Helfrich, MH, Helgason, GV, Henske, EP, Herman, B, Herman, PK, Hetz, C, Hilfiker, S, Hill, JA, Hocking, LJ, Hofman, P, Hofmann, TG, Hohfeld, J, Holyoake, TL, Hong, MH, Hood, DA, Hotamisligil, GS, Houwerzijl, EJ, Hoyer-Hansen, M, Hu, BR, Hu, CAA, Hu, HM, Hua, Y, Huang, CH, Huang, J, Huang, SB, Huang, WP, Huber, TB, Huh, WK, Hung, TH, Hupp, TR, Hur, GM, Hurley, JB, Hussain, SNA, Hussey, PJ, Hwang, JJ, Hwang, SM, Ichihara, A, Ilkhanizadeh, S, Inoki, K, Into, T, Iovane, V, Iovanna, JL, Ip, NY, Isaka, Y, Ishida, H, Isidoro, C, Isobe, K, Iwasaki, A, Izquierdo, M, Izumi, Y, Jaakkola, PM, Jaattela, M, Jackson, GR, Jackson, WT, Janji, B, Jendrach, M, Jeon, JH, Jeung, EB, Jiang, H, Jiang, HC, Jiang, JX, Jiang, M, Jiang, Q, Jiang, XJ, Jimenez, A, Jin, MY, Jin, SK, Joe, CO, Johansen, T, Johnson, DE, Johnson, GVW, Jones, NL, Joseph, B, Joseph, SK, Joubert, AM, Juhasz, G, Juillerat-Jeanneret, L, Jung, CH, Jung, YK, Kaarniranta, K, Kaasik, A, Kabuta, T, Kadowaki, M, Kagedal, K, Kamada, Y, Kaminskyy, VO, Kampinga, HH, Kanamori, H, Kang, C, Kang, KB, Kang, KI, Kang, R, Kang, YA, Kanki, T, Kanneganti, TD, Kanno, H, Kanthasamy, AG, Kanthasamy, A, Karantza, V, Kaushal, GP, Kaushik, S, Kawazoe, Y, Ke, PY, Kehrl, JH, Kelekar, A, Kerkhoff, C, Kessel, DH, Khalil, H, Kiel, JAKW, Kiger, AA, Kihara, A, Kim, DR, Kim, DH, Kim, EK, Kim, HR, Kim, JS, Kim, JH, Kim, JC, Kim, JK, Kim, PK, Kim, SW, Kim, YS, Kim, Y, Kimchi, A, Kimmelman, AC, King, JS, Kinsella, TJ, Kirkin, V, Kirshenbaum, LA, Kitamoto, K, Kitazato, K, Klein, L, Klimecki, WT, Klucken, J, Knecht, E, Ko, BCB, Koch, JC, Koga, H, Koh, JY, Koh, YH, Koike, M, Komatsu, M, Kominami, E, Kong, HJ, Kong, WJ, Korolchuk, VI, Kotake, Y, Koukourakis, MI, Flores, JBK, Kovacs, AL, Kraft, C, Krainc, D, Kraemer, H, Kretz-Remy, C, Krichevsky, AM, Kroemer, G, Krueger, R, Krut, O, Ktistakis, NT, Kuan, CY, Kucharczyk, R, Kumar, A, Kumar, R, Kumar, S, Kundu, M, Kung, HJ, Kurz, T, Kwon, HJ, La Spada, AR, Lafont, F, Lamark, T, Landry, J, Lane, JD, Lapaquette, P, Laporte, JF, Laszlo, L, Lavandero, S, Lavoie, JN, Layfield, R, Lazo, PA, Le, WD, Le Cam, L, Ledbetter, DJ, Lee, AJX, Lee, BW, Lee, GM, Lee, J, Lee, JH, Lee, M, Lee, MS, Lee, SH, Leeuwenburgh, C, Legembre, P, Legouis, R, Lehmann, M, Lei, HY, Lei, QY, Leib, DA, Leiro, J, Lemasters, JJ, Lemoine, A, Lesniak, MS, Lev, D, Levenson, VV, Levine, B, Levy, E, Li, FQ, Li, JL, Li, L, Li, S, Li, WJ, Li, XJ, Li, YB, Li, YP, Liang, CY, Liang, QR, Liao, YF, Liberski, PP, Lieberman, A, Lim, HJ, Lim, KL, Lim, K, Lin, CF, Lin, FC, Lin, J, Lin, JDD, Lin, K, Lin, WW, Lin, WC, Lin, YL, Linden, R, Lingor, P, Lippincott-Schwartz, J, Lisanti, MP, Liton, PB, Liu, B, Liu, CF, Liu, KY, Liu, LY, Liu, QA, Liu, W, Liu, YC, Liu, YL, Lockshin, RA, Lok, CN, Lonial, S, Loos, B, Lopez-Berestein, G, Lopez-Otin, C, Lossi, L, Lotze, MT, Low, P, Lu, BF, Lu, BW, Lu, B, Lu, Z, Luciano, F, Lukacs, NW, Lund, AH, Lynch-Day, MA, Ma, Y, Macian, F, MacKeigan, JP, Macleod, KF, Madeo, F, Maiuri, L, Maiuri, MC, Malagoli, D, Malicdan, MCV, Malorni, W, Man, N, Mandelkow, EM, Manon, S, Manov, I, Mao, K, Mao, X, Mao, ZX, Marambaud, P, Marazziti, D, Marcel, YL, Marchbank, K, Marchetti, P, Marciniak, SJ, Marcondes, M, Mardi, M, Marfe, G, Marino, G, Markaki, M, Marten, MR, Martin, SJ, Martinand-Mari, C, Martinet, W, Martinez-Vicente, M, Masini, M, Matarrese, P, Matsuo, S, Matteoni, R, Mayer, A, Mazure, NM, McConkey, DJ, McConnell, MJ, McDermott, C, McDonald, C, McInerney, GM, McKenna, SL, McLaughlin, B, McLean, PJ, McMaster, CR, McQuibban, GA, Meijer, AJ, Meisler, MH, Melendez, A, Melia, TJ, Melino, G, Mena, MA, Menendez, JA, Menna-Barreto, RFS, Menon, MB, Menzies, FM, Mercer, CA, Merighi, A, Merry, DE, Meschini, S, Meyer, CG, Meyer, TF, Miao, CY, Miao, JY, Michels, PAM, Michiels, C, Mijaljica, D, Milojkovic, A, Minucci, S, Miracco, C, Miranti, CK, Mitroulis, I, Miyazawa, K, Mizushima, N, Mograbi, B, Mohseni, S, Molero, X, Mollereau, B, Mollinedo, F, Momoi, T, Monastyrska, I, Monick, MM, Monteiro, MJ, Moore, MN, Mora, R, Moreau, K, Moreira, PI, Moriyasu, Y, Moscat, J, Mostowy, S, Mottram, JC, Motyl, T, Moussa, CEH, Muller, S, Munger, K, Munz, C, Murphy, LO, Murphy, ME, Musaro, A, Mysorekar, I, Nagata, E, Nagata, K, Nahimana, A, Nair, U, Nakagawa, T, Nakahira, K, Nakano, H, Nakataogawa, H, Nanjundan, M, Naqvi, NI, Narendra, DP, Narita, M, Navarro, M, Nawrocki, ST, Nazarko, TY, Nemchenko, A, Netea, MG, Neufeld, TP, Ney, PA, Nezis, IP, Nguyen, HP, Nie, DT, Nishino, I, Nislow, C, Nixon, RA, Noda, T, Noegel, AA, Nogalska, A, Noguchi, S, Notterpek, L, Novak, I, Nozaki, T, Nukina, N, Nuurnberger, T, Nyfeler, B, Obara, K, Oberley, TD, Oddo, S, Ogawa, M, Ohashi, T, Okamoto, K, Oleinick, NL, Oliver, FJ, Olsen, LJ, Olsson, S, Opota, O, Osborne, TF, Ostrander, GK, Otsu, K, Ou, JHJ, Ouimet, M, Overholtzer, M, Ozpolat, B, Paganetti, P, Pagnini, U, 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E, Robbins, J, Roberge, M, Roca, H, Roccheri, MC, Rocchi, S, Rodemann, HP, de Cordoba, SR, Rohrer, B, Roninson, IB, Rosen, K, Rost-Roszkowska, MM, Rouis, M, Rouschop, KMA, Rovetta, F, Rubin, BP, Rubinsztein, DC, Ruckdeschel, K, Rucker, EB, Rudich, A, Rudolf, E, Ruiz-Opazo, N, Russo, R, Rusten, TE, Ryan, KM, Ryter, SW, Sabatini, DM, Sadoshima, J, Saha, T, Saitoh, T, Sakagami, H, Sakai, Y, Salekdeh, GH, Salomoni, P, Salvaterra, PM, Salvesen, G, Salvioli, R, Sanchez, AMJ, Sanchez-Alcazar, JA, Sanchez-Prieto, R, Sandri, M, Sankar, U, Sansanwal, P, Santambrogio, L, Saran, S, Sarkar, S, Sarwal, M, Sasakawa, C, Sasnauskiene, A, Sass, M, Sato, K, Sato, M, Schapira, AHV, Scharl, M, Schatzl, HM, Scheper, W, Schiaffino, S, Schneider, C, Schneider, ME, Schneider-Stock, R, Schoenlein, PV, Schorderet, DF, Schuller, C, Schwartz, GK, Scorrano, L, Sealy, L, Seglen, PO, Segura-Aguilar, J, Seiliez, I, Seleverstov, O, Sell, C, Seo, JB, Separovic, D, Setaluri, V, Setoguchi, T, Settembre, C, Shacka, JJ, Shanmugam, M, Shapiro, IM, Shaulian, E, Shaw, RJ, Shelhamer, JH, Shen, HM, Shen, WC, Sheng, ZH, Shi, Y, Shibuya, K, Shidoji, Y, Shieh, JJ, Shih, CM, Shimada, Y, Shimizu, S, Shintani, T, Shirihai, OS, Shore, GC, Sibirny, AA, Sidhu, SB, Sikorska, B, Silva-Zacarin, ECM, Simmons, A, Simon, AK, Simon, HU, Simone, C, Simonsen, A, Sinclair, DA, Singh, R, Sinha, D, Sinicrope, FA, Sirko, A, Siu, PM, Sivridis, E, Skop, V, Skulachev, VP, Slack, RS, Smaili, SS, Smith, DR, Soengas, MS, Soldati, T, Song, XQ, Sood, AK, Soong, TW, Sotgia, F, Spector, SA, Spies, CD, Springer, W, Srinivasula, SM, Stefanis, L, Steffan, JS, Stendel, R, Stenmark, H, Stephanou, A, Stern, ST, Sternberg, C, Stork, B, Stralfors, P, Subauste, CS, Sui, XB, Sulzer, D, Sun, JR, Sun, SY, Sun, ZJ, Sung, JJY, Suzuki, K, Suzuki, T, Swanson, MS, Swanton, C, Sweeney, ST, Sy, LK, Szabadkai, G, Tabas, I, Taegtmeyer, H, Tafani, M, Takacs-Vellai, K, Takano, Y, Takegawa, K, Takemura, G, Takeshita, F, Talbot, NJ, Tan, KSW, Tanaka, K, Tang, DL, Tang, DZ, Tanida, I, Tannous, BA, Tavernarakis, N, Taylor, GS, Taylor, GA, Taylor, JP, Terada, LS, Terman, A, Tettamanti, G, Thevissen, K, Thompson, CB, Thorburn, A, Thumm, M, Tian, FF, Tian, Y, Tocchini-Valentini, G, Tolkovsky, AM, Tomino, Y, Toenges, L, Tooze, SA, Tournier, C, Tower, J, Towns, R, Trajkovic, V, Travassos, LH, Tsai, TF, Tschan, MP, Tsubata, T, Tsung, A, Turk, B, Turner, LS, Tyagi, SC, Uchiyama, Y, Ueno, T, Umekawa, M, Umemiya-Shirafuji, R, Unni, VK, Vaccaro, MI, Valente, EM, Van den Berghe, G, van der Klei, IJ, van Doorn, WG, van Dyk, LF, van Egmond, M, van Grunsven, LA, Vandenabeele, P, Vandenberghe, WP, Vanhorebeek, I, Vaquero, EC, Velasco, G, Vellai, T, Vicencio, JM, Vierstra, RD, Vila, M, Vindis, C, Viola, G, Viscomi, MT, Voitsekhovskaja, OV, von Haefen, C, Votruba, M, Wada, K, Wade-Martins, R, Walker, CL, Walsh, CM, Walter, J, Wan, XB, Wang, AM, Wang, CG, Wang, DW, Wang, F, Wang, GH, Wang, HC, Wang, HG, Wang, HD, Wang, J, Wang, K, Wang, M, Wang, RC, Wang, XL, Wang, XJ, Wang, YJ, Wang, YP, Wang, Z, Wang, ZC, Wang, ZN, Wansink, DG, Ward, DM, Watada, H, Waters, SL, Webster, P, Wei, LX, Weihl, CC, Weiss, WA, Welford, SM, Wen, LP, Whitehouse, CA, Whitton, JL, Whitworth, AJ, Wileman, T, Wiley, JW, Wilkinson, S, Willbold, D, Williams, RL, Williamson, PR, Wouters, BG, Wu, CH, Wu, DC, Wu, WKK, Wyttenbach, A, Xavier, RJ, Xi, ZJ, Xia, P, Xiao, GF, Xie, ZP, Xie, ZL, Xu, DZ, Xu, JZ, Xu, L, Xu, XL, Yamamoto, A, Yamashina, S, Yamashita, M, Yan, XH, Yanagida, M, Yang, DS, Yang, E, Yang, JM, Yang, SY, Yang, WN, Yang, WY, Yang, ZF, Yao, MC, Yao, TP, Yeganeh, B, Yen, WL, Yin, JJ, Yin, XM, Yoo, OJ, Yoon, G, Yoon, SY, Yorimitsu, T, Yoshikawa, Y, Yoshimori, T, Yoshimoto, K, You, HJ, Youle, RJ, Younes, A, Yu, L, Yu, SW, Yu, WH, Yuan, ZM, Yue, ZY, Yun, CH, Yuzaki, M, Zabirnyk, O, Silva-Zacarin, E, Zacks, D, Zacksenhaus, E, Zaffaroni, N, Zakeri, Z, Zeh, HJ, Zeitlin, SO, Zhang, H, Zhang, HL, Zhang, JH, Zhang, JP, Zhang, L, Zhang, MY, Zhang, XD, Zhao, MT, Zhao, YF, Zhao, Y, Zhao, ZZJ, Zheng, XX, Zhivotovsky, B, Zhong, Q, Zhou, CZ, Zhu, CL, Zhu, WG, Zhu, XF, Zhu, XW, Zhu, YG, Zoladek, T, Zong, WX, Zorzano, A, Zschocke, J, Zuckerbraun, B
المصدر: Autophagy. 8(4):445-544
مصطلحات موضوعية: Medicin och hälsovetenskap
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4دورية أكاديمية
المؤلفون: Deneubourg, C, Ramm, M, Smith, LJ, Baron, O, Singh, K, Byrne, SC, Duchen, MR, Gautel, M, Eskelinen, E-L, Fanto, M, Jungbluth, H
المصدر: Autophagy (2021) (In press).
مصطلحات موضوعية: autophagy, congenital disorders of autophagy, cellular trafficking, neurodegenerative disorders, neurodevelopmental disorders
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10136152/7/Duchen_The%20spectrum%20of%20neurodevelopmental,%20neuromuscular%20and%20neurodegenerative%20disorders%20due%20to%20defective%20autophagy.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10136152Test/
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5دورية أكاديمية
المؤلفون: Rees, M, Nikoopour, R, Fukuzawa, A, Kho, AL, Fernandez-Garcia, MA, Wraige, E, Bodi, I, Deshpande, C, Özdemir, Ö, Daimagüler, H-S, Pfuhl, M, Holt, M, Brandmeier, B, Grover, S, Fluss, J, Longman, C, Farrugia, ME, Matthews, E, Hanna, M, Muntoni, F, Sarkozy, A, Phadke, R, Quinlivan, R, Oates, EC, Schröder, R, Thiel, C, Reimann, J, Voermans, N, Erasmus, C, Kamsteeg, E-J, Konersman, C, Grosmann, C, McKee, S, Tirupathi, S, Moore, SA, Wilichowski, E, Hobbiebrunken, E, Dekomien, G, Richard, I, Van den Bergh, P, Domínguez-González, C, Cirak, S, Ferreiro, A, Jungbluth, H, Gautel, M
المصدر: Acta Neuropathologia (2021) (In press).
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10119547/1/Rees2021_Article_MakingSenseOfMissenseVariantsI.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10119547Test/
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6دورية أكاديمية
المؤلفون: Wacker, J., Di Bernardo, S., Lobrinus, J.A., Jungbluth, H., Gautel, M., Beghetti, M., Fluss, J.
المصدر: Pediatric transplantation, vol. 27, no. 6, pp. e14561
مصطلحات موضوعية: Male, Humans, Child, Preschool, Connectin/genetics, Cardiomyopathy, Restrictive/complications, Restrictive/genetics, Muscular Diseases/genetics, Mutation, Heart Transplantation, pediatric heart transplant, titin
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37345726; info:eu-repo/semantics/altIdentifier/eissn/1399-3046; https://serval.unil.ch/notice/serval:BIB_520CCFD64BC3Test; urn:issn:1397-3142
الإتاحة: https://doi.org/10.1111/petr.14561Test
https://serval.unil.ch/notice/serval:BIB_520CCFD64BC3Test -
7دورية أكاديمية
المؤلفون: Tamborrini, D., Wang, Z., Wagner, T., Tacke, S., Stabrin, M., Grange, M., Kho , A., Rees , M., Bennett, P., Gautel, M., Raunser, S.
المصدر: Nature
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8دورية أكاديمية
المؤلفون: Koch, D., Kho, A., Fukuzawa, A., Alexandrovich, A., Vanaanen, K., Beavil, A., Pfuhl, M., Rees, M., Gautel, M.
المصدر: PLoS One
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37079638; http://hdl.handle.net/21.11116/0000-000D-A744-ATest
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9دورية أكاديمية
المؤلفون: Jungbluth H, Treves S, Zorzato F, Sarkozy A, Ochala, Sewry C, Phadke R, Gautel M, Muntoni F
المساهمون: Jungbluth, H, Treves, S, Zorzato, F, Sarkozy, A, Ochala, Sewry, C, Phadke, R, Gautel, M, Muntoni, F
مصطلحات موضوعية: congenital myopathies, mutations, ryanodine receptors
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29391587; info:eu-repo/semantics/altIdentifier/wos/WOS:000426190000009; volume:14; issue:3; firstpage:151; lastpage:167; numberofpages:2; journal:NATURE REVIEWS. NEUROLOGY; http://hdl.handle.net/11392/2382654Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85042640386; https://www.nature.com/articles/nrneurol.2017.191Test; https://kclpure.kcl.ac.uk/portal/files/88782166/Congenital_myopathies_disorders_of_JUNGBLUTH_Publishedonline2February2018_GREEN_AAM.pdfTest
الإتاحة: https://doi.org/10.1038/nrneurol.2017.191Test
http://hdl.handle.net/11392/2382654Test
https://www.nature.com/articles/nrneurol.2017.191Test
https://kclpure.kcl.ac.uk/portal/files/88782166/Congenital_myopathies_disorders_of_JUNGBLUTH_Publishedonline2February2018_GREEN_AAM.pdfTest -
10دورية أكاديمية
المؤلفون: Pernigo S., Fukuzawa A., Beedle A. E. M., Holt M., Round A., Pandini A., Garcia-Manyes S., Gautel M., Steiner R.
المساهمون: Pernigo, S., Fukuzawa, A., Beedle, A. E. M., Holt, M., Round, A., Pandini, A., Garcia-Manyes, S., Gautel, M., Steiner, R.
مصطلحات موضوعية: atomic force microscopy, immunoglobulin domain, M-band, muscle, myomesin, obscurin, obscurin-like-1, protein complexe, SAXS, X-ray crystallography, Animal, Binding Site, Cells, Cultured, Connectin, Crystallography, X-Ray, Cytoskeletal Protein, Cytoskeleton, Human, Immunoglobulin, Models, Molecular, Skeletal, Myocytes, Cardiac, Protein Binding, Protein Domain, Protein-Serine-Threonine Kinase, Rat
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27989621; info:eu-repo/semantics/altIdentifier/wos/WOS:000396701400011; volume:25; issue:1; firstpage:107; lastpage:120; numberofpages:14; journal:STRUCTURE; http://hdl.handle.net/11577/3403014Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85008162861
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