المؤلفون: Kaiyrzhanov, R, Rad, A, Lin, S-J, Bertoli-Avella, A, Kallemeijn, WW, Godwin, A, Zaki, MS, Huang, K, Lau, T, Petree, C, Efthymiou, S, Karimiani, EG, Hempel, M, Normand, EA, Rudnik-Schöneborn, S, Schatz, UA, Baggelaar, MP, Ilyas, M, Sultan, T, Alvi, JR, Ganieva, M, Fowler, B, Aanicai, R, Tayfun, GA, Al Saman, A, Alswaid, A, Amiri, N, Asilova, N, Shotelersuk, V, Yeetong, P, Azam, M, Babaei, M, Monajemi, GB, Mohammadi, P, Samie, S, Banu, SH, Pinto Basto, J, Kortüm, F, Bauer, M, Bauer, P, Beetz, C, Garshasbi, M, Issa, AH, Eyaid, W, Ahmed, H, Hashemi, N, Hassanpour, K, Herman, I, Ibrohimov, S, Abdul-Majeed, BA, Imdad, M, Isrofilov, M, Kaiyal, Q, Khan, S, Kirmse, B, Koster, J, Lourenço, CM, Mitani, T, Moldovan, O, Murphy, D, Najafi, M, Pehlivan, D, Rocha, ME, Salpietro, V, Schmidts, M, Shalata, A, Mahroum, M, Talbeya, JK, Taylor, RW, Vazquez, D, Vetro, A, Waterham, HR, Zaman, M, Schrader, TA, Chung, WK, Guerrini, R, Lupski, JR, Gleeson, J, Suri, M, Jamshidi, Y, Bhatia, KP, Vona, B, Schrader, M, Severino, M, Guille, M, Tate, EW, Varshney, GK, Houlden, H, Maroofian, R

وصف الملف: application/pdf; application/zip

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/115881/6/awad380.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/115881/14/awad380_supplementary_data.zipTest; https://openaccess.sgul.ac.uk/id/eprint/115881/1/awad380.pdfTest; Kaiyrzhanov, R; Rad, A; Lin, S-J; Bertoli-Avella, A; Kallemeijn, WW; Godwin, A; Zaki, MS; Huang, K; Lau, T; Petree, C; et al. Kaiyrzhanov, R; Rad, A; Lin, S-J; Bertoli-Avella, A; Kallemeijn, WW; Godwin, A; Zaki, MS; Huang, K; Lau, T; Petree, C; Efthymiou, S; Karimiani, EG; Hempel, M; Normand, EA; Rudnik-Schöneborn, S; Schatz, UA; Baggelaar, MP; Ilyas, M; Sultan, T; Alvi, JR; Ganieva, M; Fowler, B; Aanicai, R; Tayfun, GA; Al Saman, A; Alswaid, A; Amiri, N; Asilova, N; Shotelersuk, V; Yeetong, P; Azam, M; Babaei, M; Monajemi, GB; Mohammadi, P; Samie, S; Banu, SH; Pinto Basto, J; Kortüm, F; Bauer, M; Bauer, P; Beetz, C; Garshasbi, M; Issa, AH; Eyaid, W; Ahmed, H; Hashemi, N; Hassanpour, K; Herman, I; Ibrohimov, S; Abdul-Majeed, BA; Imdad, M; Isrofilov, M; Kaiyal, Q; Khan, S; Kirmse, B; Koster, J; Lourenço, CM; Mitani, T; Moldovan, O; Murphy, D; Najafi, M; Pehlivan, D; Rocha, ME; Salpietro, V; Schmidts, M; Shalata, A; Mahroum, M; Talbeya, JK; Taylor, RW; Vazquez, D; Vetro, A; Waterham, HR; Zaman, M; Schrader, TA; Chung, WK; Guerrini, R; Lupski, JR; Gleeson, J; Suri, M; Jamshidi, Y; Bhatia, KP; Vona, B; Schrader, M; Severino, M; Guille, M; Tate, EW; Varshney, GK; Houlden, H; Maroofian, R (2024) Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain, 147 (4). pp. 1436-1456. ISSN 1460-2156 https://doi.org/10.1093/brain/awad380Test SGUL Authors: Jamshidi, Yalda

الإتاحة: https://doi.org/10.1093/brain/awad380Test
https://openaccess.sgul.ac.uk/id/eprint/115881Test/
https://openaccess.sgul.ac.uk/id/eprint/115881/6/awad380.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/115881/14/awad380_supplementary_data.zipTest
https://openaccess.sgul.ac.uk/id/eprint/115881/1/awad380.pdfTest

المؤلفون: Kaiyrzhanov, R, Rad, A, Lin, S-J, Bertoli-Avella, A, Kallemeijn, WW, Godwin, A, Zaki, MS, Huang, K, Lau, T, Petree, C, Efthymiou, S, Ghayoor Karimiani, E, Hempel, M, Normand, EA, Rudnik-Schöneborn, S, Schatz, UA, Baggelaar, MP, Ilyas, M, Sultan, T, Alvi, JR, Ganieva, M, Fowler, B, Aanicai, R, Akay Tayfun, G, Al Saman, A, Alswaid, A, Amiri, N, Asilova, N, Shotelersuk, V, Yeetong, P, Azam, M, Babaei, M, Bahrami Monajemi, G, Mohammadi, P, Samie, S, Banu, SH, Basto, JP, Kortüm, F, Bauer, M, Bauer, P, Beetz, C, Garshasbi, M, Hameed Issa, A, Eyaid, W, Ahmed, H, Hashemi, N, Hassanpour, K, Herman, I, Ibrohimov, S, Abdul-Majeed, BA, Imdad, M, Isrofilov, M, Kaiyal, Q, Khan, S, Kirmse, B, Koster, J, Lourenço, CM, Mitani, T, Moldovan, O, Murphy, D, Najafi, M, Pehlivan, D, Rocha, ME, Salpietro, V, Schmidts, M, Shalata, A, Mahroum, M, Talbeya, JK, Taylor, RW, Vazquez, D, Vetro, A, Waterham, HR, Zaman, M, Schrader, TA, Chung, WK, Guerrini, R, Lupski, JR, Gleeson, J, Suri, M, Jamshidi, Y, Bhatia, KP, Vona, B, Schrader, M, Severino, M, Guille, M, Tate, EW, Varshney, GK, Houlden, H, Maroofian, R

مصطلحات موضوعية: ACBD6, N-myristoylation, ataxia, dystonia, neudegeneration, parkinsonism

وصف الملف: awad380-; Print-Electronic

العلاقة: https://www.ncbi.nlm.nih.gov/pubmed/37951597Test; Brain; orcid:0000-0003-2146-0535 (Schrader, Michael); Article awad380; https://doi.org/10.1093/brain/awad380Test; http://hdl.handle.net/10871/134632Test

الإتاحة: https://doi.org/10.1093/brain/awad380Test
http://hdl.handle.net/10871/134632Test

المؤلفون: Hoang, D. Q., Borisova, E. Ya., Borisova, N. Yu., Asilova, N. Yu., Kaldyrkaeva, O. S., Arzamastsev, E. V., Terekhova, O. A., Afanas’eva, E. Yu., Levitskaya, E. L.

المصدر: Russian Chemical Bulletin ; volume 67, issue 1, page 131-136 ; ISSN 1066-5285 1573-9171

مصطلحات موضوعية: General Chemistry

الإتاحة: https://doi.org/10.1007/s11172-018-2048-0Test

المؤلفون: Peshnev, B. V., Filimonov, A. S., Surovikin, Yu. V., Asilova, N. Yu.

المصدر: Solid Fuel Chemistry; Jul2018, Vol. 52 Issue 4, p269-274, 6p

المؤلفون: Hoang, D. Q., Borisova, E. Ya., Borisova, N. Yu., Asilova, N. Yu., Kaldyrkaeva, O. S., Arzamastsev, E. V., Terekhova, O. A., Afanas'eva, E. Yu., Levitskaya, E. L.

المصدر: Russian Chemical Bulletin; Jan2018, Vol. 67 Issue 1, p131-136, 6p

مصطلحات موضوعية: STYRENE oxide, ETHYLENEDIAMINE, ACYLATION kinetics, ARRHYTHMIA diagnosis, CARBOXAMIDES

المؤلفون: Peshnev, B., Nikolaev, A., Kuz’micheva, G., Asilova, N., Podlesnaya, M.

المصدر: Solid Fuel Chemistry; Aug2007, Vol. 41 Issue 4, p248-251, 4p