المؤلفون: Chelban, V, Aksnes, H, Maroofian, R, LaMonica, LC, Seabra, L, Siggervåg, A, Devic, P, Shamseldin, HE, Vandrovcova, J, Murphy, D, Richard, A-C, Quenez, O, Bonnevalle, A, Zanetti, MN, Kaiyrzhanov, R, Salpietro, V, Efthymiou, S, Schottlaender, LV, Morsy, H, Scardamaglia, A, Tariq, A, Pagnamenta, AT, Pennavaria, A, Krogstad, LS, Bekkelund, ÅK, Caiella, A, Glomnes, N, Brønstad, KM, Tury, S, Moreno De Luca, A, Boland-Auge, A, Olaso, R, Deleuze, J-F, Anheim, M, Cretin, B, Vona, B, Alajlan, F, Abdulwahab, F, Battini, J-L, İpek, R, Bauer, P, Zifarelli, G, Gungor, S, Kurul, SH, Lochmuller, H, Da'as, SI, Fakhro, KA, Gómez-Pascual, A, Botía, JA, Wood, NW, Horvath, R, Ernst, AM, Rothman, JE, McEntagart, M, Crow, YJ, Alkuraya, FS, Nicolas, G, SYNaPS Study Group, Arnesen, T, Houlden, H

وصف الملف: application/pdf; application/vnd.ms-excel; video/mp4; video/x-msvideo

Relation: https://openaccess.sgul.ac.uk/id/eprint/116732/1/s41467-024-46354-0.pdf; https://openaccess.sgul.ac.uk/id/eprint/116732/6/41467_2024_46354_MOESM1_ESM.pdf; https://openaccess.sgul.ac.uk/id/eprint/116732/11/41467_2024_46354_MOESM2_ESM.pdf; https://openaccess.sgul.ac.uk/id/eprint/116732/16/41467_2024_46354_MOESM3_ESM.pdf; https://openaccess.sgul.ac.uk/id/eprint/116732/25/41467_2024_46354_MOESM4_ESM.xlsx; https://openaccess.sgul.ac.uk/id/eprint/116732/26/41467_2024_46354_MOESM5_ESM.mp4; https://openaccess.sgul.ac.uk/id/eprint/116732/27/41467_2024_46354_MOESM6_ESM.avi; https://openaccess.sgul.ac.uk/id/eprint/116732/28/41467_2024_46354_MOESM7_ESM.pdf; https://openaccess.sgul.ac.uk/id/eprint/116732/33/41467_2024_46354_MOESM8_ESM.pdf; Chelban, V; Aksnes, H; Maroofian, R; LaMonica, LC; Seabra, L; Siggervåg, A; Devic, P; Shamseldin, HE; Vandrovcova, J; Murphy, D; et al. Chelban, V; Aksnes, H; Maroofian, R; LaMonica, LC; Seabra, L; Siggervåg, A; Devic, P; Shamseldin, HE; Vandrovcova, J; Murphy, D; Richard, A-C; Quenez, O; Bonnevalle, A; Zanetti, MN; Kaiyrzhanov, R; Salpietro, V; Efthymiou, S; Schottlaender, LV; Morsy, H; Scardamaglia, A; Tariq, A; Pagnamenta, AT; Pennavaria, A; Krogstad, LS; Bekkelund, ÅK; Caiella, A; Glomnes, N; Brønstad, KM; Tury, S; Moreno De Luca, A; Boland-Auge, A; Olaso, R; Deleuze, J-F; Anheim, M; Cretin, B; Vona, B; Alajlan, F; Abdulwahab, F; Battini, J-L; İpek, R; Bauer, P; Zifarelli, G; Gungor, S; Kurul, SH; Lochmuller, H; Da'as, SI; Fakhro, KA; Gómez-Pascual, A; Botía, JA; Wood, NW; Horvath, R; Ernst, AM; Rothman, JE; McEntagart, M; Crow, YJ; Alkuraya, FS; Nicolas, G; SYNaPS Study Group; Arnesen, T; Houlden, H (2024) Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nat Commun, 15 (1). p. 2269. ISSN 2041-1723 https://doi.org/10.1038/s41467-024-46354-0 SGUL Authors: McEntagart, Meriel

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/116732/
https://openaccess.sgul.ac.uk/id/eprint/116732/1/s41467-024-46354-0.pdf
https://openaccess.sgul.ac.uk/id/eprint/116732/6/41467_2024_46354_MOESM1_ESM.pdf
https://openaccess.sgul.ac.uk/id/eprint/116732/11/41467_2024_46354_MOESM2_ESM.pdf
https://openaccess.sgul.ac.uk/id/eprint/116732/16/41467_2024_46354_MOESM3_ESM.pdf
https://openaccess.sgul.ac.uk/id/eprint/116732/25/41467_2024_46354_MOESM4_ESM.xlsx
https://openaccess.sgul.ac.uk/id/eprint/116732/26/41467_2024_46354_MOESM5_ESM.mp4
https://openaccess.sgul.ac.uk/id/eprint/116732/27/41467_2024_46354_MOESM6_ESM.avi
https://openaccess.sgul.ac.uk/id/eprint/116732/28/41467_2024_46354_MOESM7_ESM.pdf
https://openaccess.sgul.ac.uk/id/eprint/116732/33/41467_2024_46354_MOESM8_ESM.pdf

المؤلفون: Chelban V, Aksnes H, Maroofian R, LaMonica LC, Seabra L, Siggervåg A, Devic P, Shamseldin HE, Vandrovcova J, Murphy D, Richard AC, Quenez O, Bonnevalle A, Zanetti MN, Kaiyrzhanov R, Salpietro V, Efthymiou S, Schottlaender LV, Morsy H, Scardamaglia A, Tariq A, Pagnamenta AT, Pennavaria A, Krogstad LS, Bekkelund ÅK, Caiella A, Glomnes N, Brønstad KM, Tury S, Moreno De Luca A, Boland-Auge A, Olaso R, Deleuze JF, Anheim M, Cretin B, Vona B, Alajlan F, Abdulwahab F, Battini JL, İpek R, Bauer P, Zifarelli G, Gungor S, Kurul SH, Lochmuller H, Da'as SI, Fakhro KA, Gómez-Pascual A, Botía JA, Wood NW, Horvath R, Ernst AM, Rothman JE, McEntagart M, Crow YJ, Alkuraya FS, Nicolas G, SYNaPS Study Group, Aguennouz M, Di Rosa G, Arnesen T, Houlden H.

المساهمون: Chelban, V, Aksnes, H, Maroofian, R, Lamonica, Lc, Seabra, L, Siggervåg, A, Devic, P, Shamseldin, He, Vandrovcova, J, Murphy, D, Richard, Ac, Quenez, O, Bonnevalle, A, Zanetti, Mn, Kaiyrzhanov, R, Salpietro, V, Efthymiou, S, Schottlaender, Lv, Morsy, H, Scardamaglia, A, Tariq, A, Pagnamenta, At, Pennavaria, A, Krogstad, L, Bekkelund, Åk, Caiella, A, Glomnes, N, Brønstad, Km, Tury, S, Moreno De Luca, A, Boland-Auge, A, Olaso, R, Deleuze, Jf, Anheim, M, Cretin, B, Vona, B, Alajlan, F, Abdulwahab, F, Battini, Jl, İpek, R, Bauer, P, Zifarelli, G, Gungor, S, Kurul, Sh, Lochmuller, H, Da'As, Si, Fakhro, Ka, Gómez-Pascual, A, Botía, Ja, Wood, Nw, Horvath, R, Ernst, Am, Rothman, Je, Mcentagart, M, Crow, Yj, Alkuraya, F, Nicolas, G, SYNaPS Study, Group, Aguennouz, M, Di Rosa, G, Arnesen T, Houlden H.

وصف الملف: ELETTRONICO

Relation: firstpage:1; lastpage:20; numberofpages:20; journal:NATURE COMPUTATIONAL SCIENCE; https://hdl.handle.net/11570/3294390

الاتاحة: https://hdl.handle.net/11570/3294390

المؤلفون: Marafi, D, Fatih, JM, Kaiyrzhanov, R, Ferla, MP, Gijavanekar, C, Al-Maraghi, A, Liu, N, Sites, E, Alsaif, HS, Al-Owain, M, Zakkariah, M, El-Anany, E, Guliyeva, U, Guliyeva, S, Gaba, C, Haseeb, A, Alhashem, AM, Danish, E, Karageorgou, V, Beetz, C, Subhi, AA, Mullegama, SV, Torti, E, Sebastin, M, Breilyn, MS, Duberstein, S, Abdel-Hamid, MS, Mitani, T, Du, H, Rosenfeld, JA, Jhangiani, SN, Coban Akdemir, Z, Gibbs, RA, Taylor, JC, Fakhro, KA, Hunter, JV, Pehlivan, D, Zaki, MS, Gleeson, JG, Maroofian, R, Houlden, H, Posey, JE, Sutton, VR, Alkuraya, FS, Elsea, SH, Lupski, JR

المصدر: Brain , 145 (3) pp. 909-924. (2022)

مصطلحات موضوعية: SLC38A3, biallelic, glutamate transporter, glutamate/GABA-glutamine cycle

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10139262/1/awab369.pdf; https://discovery.ucl.ac.uk/id/eprint/10139262/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10139262/1/awab369.pdf
https://discovery.ucl.ac.uk/id/eprint/10139262/

المؤلفون: Rehm, HL, Page, AJH, Smith, L, Adams, JB, Alterovitz, G, Babb, LJ, Barkley, MP, Baudis, M, Beauvais, MJS, Beck, T, Beckmann, JS, Beltran, S, Bernick, D, Bernier, A, Bonfield, JK, Boughtwood, TF, Bourque, G, Bowers, SR, Brookes, AJ, Brudno, M, Brush, MH, Bujold, D, Burdett, T, Buske, OJ, Cabili, MN, Cameron, DL, Carroll, RJ, Casas-Silva, E, Chakravarty, D, Chaudhari, BP, Chen, SH, Cherry, JM, Chung, J, Cline, M, Clissold, HL, Cook-Deegan, RM, Courtot, M, Cunningham, F, Cupak, M, Davies, RM, Denisko, D, Doerr, MJ, Dolman, LI, Dove, ES, Dursi, LJ, Dyke, SOM, Eddy, JA, Eilbeck, K, Ellrott, KP, Fairley, S, Fakhro, KA, Firth, HV, Fitzsimons, MS, Fiume, M, Flicek, P, Fore, IM, Freeberg, MA, Freimuth, RR, Fromont, LA, Fuerth, J, Gaff, CL, Gan, W, Ghanaim, EM, Glazer, D, Green, RC, Griffith, M, Griffith, OL, Grossman, RL, Groza, T, Auvil, JMG, Guigó, R, Gupta, D, Haendel, MA, Hamosh, A, Hansen, DP, Hart, RK, Hartley, DM, Haussler, D, Hendricks-Sturrup, RM, Ho, CWL, Hobb, AE, Hoffman, MM, Hofmann, OM, Holub, P, Hsu, JS, Hubaux, J-P, Hunt, SE, Husami, A, Jacobsen, JO, Jamuar, SS, Janes, EL, Jeanson, F, Jené, A, Johns, AL, Joly, Y, Jones, SJM, Kanitz, A, Kato, K, Keane, TM, Kekesi-Lafrance, K, Kelleher, J, Kerry, G, Khor, S-S, Knoppers, BM, Konopko, MA, Kosaki, K, Kuba, M, Lawson, J, Leinonen, R, Li, S, Lin, MF, Linden, M, Liu, X, Udara Liyanage, I, Lopez, J, Lucassen, AM, Lukowski, M, Mann, AL, Marshall, J, Mattioni, M, Metke-Jimenez, A, Middleton, A, Milne, RJ, Molnár-Gábor, F, Mulder, N, Munoz-Torres, MC, Nag, R, Nakagawa, H, Nasir, J, Navarro, A, Nelson, TH, Niewielska, A, Nisselle, A, Niu, J, Nyrönen, TH, O'Connor, BD, Oesterle, S, Ogishima, S, Wang, VO, Paglione, LAD, Palumbo, E, Parkinson, HE, Philippakis, AA, Pizarro, AD, Prlic, A, Rambla, J, Rendon, A, Rider, RA, Robinson, PN, Rodarmer, KW, Rodriguez, LL, Rubin, AF, Rueda, M, Rushton, GA, Ryan, RS, Saunders, GI, Schuilenburg, H, Schwede, T, Scollen, S, Senf, A, Sheffield, NC, Skantharajah, N, Smith, AV, Sofia, HJ, Spalding, D, Spurdle, AB, Stark, Z, Stein, LD, Suematsu, M, Tan, P, Tedds, JA, Thomson, AA, Thorogood, A, Tickle, TL, Tokunaga, K, Törnroos, J, Torrents, D, Upchurch, S, Valencia, A, Guimera, RV, Vamathevan, J, Varma, S, Vears, DF, Viner, C, Voisin, C, Wagner, AH, Wallace, SE, Walsh, BP, Williams, MS, Winkler, EC, Wold, BJ, Wood, GM, Woolley, JP, Yamasaki, C, Yates, AD, Yung, CK, Zass, LJ, Zaytseva, K, Zhang, J, Goodhand, P, North, K, Birney, E

Relation: pii: 100029; Rehm, H. L., Page, A. J. H., Smith, L., Adams, J. B., Alterovitz, G., Babb, L. J., Barkley, M. P., Baudis, M., Beauvais, M. J. S., Beck, T., Beckmann, J. S., Beltran, S., Bernick, D., Bernier, A., Bonfield, J. K., Boughtwood, T. F., Bourque, G., Bowers, S. R., Brookes, A. J. ,. Birney, E. (2021). GA4GH: International policies and standards for data sharing across genomic research and healthcare. Cell Genom, 1 (2), pp.100029-. https://doi.org/10.1016/j.xgen.2021.100029.; http://hdl.handle.net/11343/305207

الاتاحة: http://hdl.handle.net/11343/305207

المؤلفون: Pagnamenta, AT, Kaiyrzhanov, R, Zou, Y, Da'as, SI, Maroofian, R, Donkervoort, S, Dominik, N, Lauffer, M, Ferla, MP, Orioli, A, Giess, A, Tucci, A, Beetz, C, Sedghi, M, Ansari, B, Barresi, R, Basiri, K, Cortese, A, Elgar, G, Fernandez-Garcia, MA, Yip, J, Foley, AR, Gutowski, N, Jungbluth, H, Lassche, S, Lavin, T, Marcelis, C, Marks, P, Marini-Bettolo, C, Medne, L, Moslemi, A-R, Sarkozy, A, Reilly, MM, Muntoni, F, Millan, F, Muraresku, CC, Need, AC, Nemeth, AH, Neuhaus, SB, Norwood, F, O'Donnell, M, O'Driscoll, M, Rankin, J, Yum, SW, Zolkipli-Cunningham, Z, Brusius, I, Wunderlich, G, Genomics England Research Consortium, Karakaya, M, Wirth, B, Fakhro, KA, Tajsharghi, H, Bönnemann, CG, Taylor, JC, Houlden, H

وصف الملف: application/pdf

Relation: https://openaccess.sgul.ac.uk/id/eprint/112991/1/awaa420.pdf; Pagnamenta, AT; Kaiyrzhanov, R; Zou, Y; Da'as, SI; Maroofian, R; Donkervoort, S; Dominik, N; Lauffer, M; Ferla, MP; Orioli, A; et al. Pagnamenta, AT; Kaiyrzhanov, R; Zou, Y; Da'as, SI; Maroofian, R; Donkervoort, S; Dominik, N; Lauffer, M; Ferla, MP; Orioli, A; Giess, A; Tucci, A; Beetz, C; Sedghi, M; Ansari, B; Barresi, R; Basiri, K; Cortese, A; Elgar, G; Fernandez-Garcia, MA; Yip, J; Foley, AR; Gutowski, N; Jungbluth, H; Lassche, S; Lavin, T; Marcelis, C; Marks, P; Marini-Bettolo, C; Medne, L; Moslemi, A-R; Sarkozy, A; Reilly, MM; Muntoni, F; Millan, F; Muraresku, CC; Need, AC; Nemeth, AH; Neuhaus, SB; Norwood, F; O'Donnell, M; O'Driscoll, M; Rankin, J; Yum, SW; Zolkipli-Cunningham, Z; Brusius, I; Wunderlich, G; Genomics England Research Consortium; Karakaya, M; Wirth, B; Fakhro, KA; Tajsharghi, H; Bönnemann, CG; Taylor, JC; Houlden, H (2021) An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy. Brain, 144 (2). pp. 584-600. ISSN 1460-2156 https://doi.org/10.1093/brain/awaa420 SGUL Authors: Maroofian, Reza

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/112991/
https://openaccess.sgul.ac.uk/id/eprint/112991/1/awaa420.pdf

المؤلفون: Skantharajah N, Baichoo S, Boughtwood TF, Casas-Silva E, Chandrasekharan S, Dave SM, Fakhro KA, Falcon de Vargas AB, Gayle SS, Gupta VK, Hendricks-Sturrup R, Hobb AE, Li S, Llamas B, Lopez-Correa C, Machirori M, Melendez-Zajgla J, Millner MA, Page AJH, Paglione LD, Raven-Adams MC, Smith L, Thomas EM, Kumuthini J, Corpas M

المصدر: Cell Genomics, 11 October 2023

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/294260; https://eprints.ncl.ac.uk/fulltext.aspx?url=294260/5B3248AE-9060-4C2B-98BC-0CAD10A5B67A.pdf&pub_id=294260

الاتاحة: https://eprints.ncl.ac.uk/294260