المؤلفون: Wiessner, M, Maroofian, R, Ni, MY, Pedroni, A, Muller, JS, Stucka, R, Beetz, C, Efthymiou, S, Santorelli, FM, Alfares, AA, Zhu, CL, Meszarosova, AU, Alehabib, E, Bakhtiari, S, Janecke, AR, Otero, MG, Chen, JYH, Peterson, JT, Strom, TM, De Jonghe, P, Deconinck, T, De Ridder, W, De Winter, J, Pasquariello, R, Ricca, I, Alfadhel, M, van de Warrenburg, BP, Portier, R, Bergmann, C, Firouzabadi, SG, Jin, SC, Bilguvar, K, Hamed, S, Abdelhameed, M, Haridy, NA, Maqbool, S, Rahman, F, Anwar, N, Carmichael, J, Pagnamenta, A, Wood, NW, Mau-Them, FT, Haack, T, Di Rocco, M, Ceccherini, I, Iacomino, M, Zara, F, Salpietro, V, Scala, M, Rusmini, M, Xu, YR, Wang, YH, Suzuki, Y, Koh, K, Nan, HT, Ishiura, H, Tsuji, S, Lambert, L, Schmitt, E, Lacaze, E, Kupper, H, Dredge, D, Skraban, C, Goldstein, A, Willis, MJH, Grand, K, Graham, JM, Lewis, RA, Millan, F, Duman, O, Dundar, N, Uyanik, G, Schols, L, Nurnberg, P, Nurnberg, G, Bordes, AC, Seeman, P, Kuchar, M, Darvish, H, Rebelo, A, Boucanova, F, Medard, JJ, Chrast, R, Auer-Grumbach, M, Alkuraya, FS, Shamseldin, H, Al Tala, S, Varaghchi, JR, Najafi, M, Deschner, S, Glaser, D, Huttel, W, Kruer, MC, Kamsteeg, EJ, Takiyama, Y, Zuchner, S, Baets, J, Synofzik, M, Schule, R, Horvath, R, Houlden, H, Bartesaghi, L, Lee, HJ, Ampatzis, K, Pierson, TM, Senderek, J

المصدر: Brain : a journal of neurology. 144(5):1422-1434

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:148018494Test

المؤلفون: Salpietro V., Maroofian R., Zaki M. S., Wangen J., Ciolfi A., Barresi S., Efthymiou S., Lamaze A., Aughey G. N., Al Mutairi F., Rad A., Rocca C., Cali E., Accogli A., Zara F., Striano P., Mojarrad M., Tariq H., Giacopuzzi E., Taylor J. C., Oprea G., Skrahina V., Rehman K. U., Abd Elmaksoud M., Bassiony M., El Said H. G., Abdel-Hamid M. S., Al Shalan M., Seo G., Kim S., Lee H., Khang R., Issa M. Y., Elbendary H. M., Rafat K., Marinakis N. M., Traeger-Synodinos J., Ververi A., Sourmpi M., Eslahi A., Khadivi Zand F., Beiraghi Toosi M., Babaei M., Jackson A., Hannah M. G., Bugiardini E., Bertini E., Kriouile Y., El-Khorassani M., Aguennouz M., Groppa S., Karashova B. M., Goraya J. S., Sultan T., Avdjieva D., Kathom H., Tincheva R., Banu S., Veggiotti P., Verrotti A., Lanari M., Savasta S., Macaya A., Garavaglia B., Borgione E., Papacostas S., Vikelis M., Chelban V., Kaiyrzhanov R., Cortese A., Sullivan R., Papanicolaou E. Z., Dardiotis E., Maqbool S., Ibrahim S., Kirmani S., Rana N. N., Atawneh O., Lim S. -Y., Zuccotti G. V., Marseglia G. L., Esposito S., Shaikh F., Cogo P., Corsello G., Mangano S., Nardello R., Mangano D., Scardamaglia A., Koutsis G., Scuderi C., Ferrara P., Morello G., Zollo M., Berni-Canani R., Terracciano L. M., Sisto A., Di Fabio S., Strano F., Scorrano G., Di Bella S., Di Francesco L., Manizha G., Isrofilov M., Guliyeva U., Salayev K., Khachatryan S., Xiromerisiou G., Spanaki C., Fiorillo C., Iacomino M., Gaudio E., Munell F., Gagliano A., Jan F., Chimenz R., Gitto E., Iughetti L., Di Rosa G., Maghnie M., Pettoello-Mantovani M., Gupta N., Kabra M., Benrhouma H., Tazir M., Bottone G., Farello G., Delvecchio M., Di-Donato G., Obeid M., Bakhtadze S., Saadi N. W., Miraglia-Del-Giudice M., Maccarone R., Triki C. C., Kara M., Karimiani E. G., Salih A. M., Ramenghi L. A., Seri M., Di-Falco G., Mandara L., Barrano G., Elisa M., Cherubini E., Operto F. F., Valenzise M., Cattaneo A., Zazzeroni F., Alesse E., Matricardi S., Zafar F., Ullah E., Afzal E., Rahman F., Ahmed M. M., Parisi P., Spalice A., De Filippo M., Licari A., Trebbi E., Romano F., Heimer G., Al-Khawaja I., Al-Mutairi F., Alkuraya F. S., Rizig M., Shashkin C., Zharkynbekova N., Koneyev K., Bertoli-Avella A., Pagnamenta A. T., Niceta M., Battini R., Corsello A., Leoni C., Chiarelli F., Dallapiccola B., Faqeih E. A., Tallur K. K., Alfadhel M., Alobeid E., Maddirevula S., Mankad K., Banka S., Ghayoor-Karimiani E., Tartaglia M., Chung W. K., Green R., Jepson J. E. C., Houlden H.

المساهمون: Salpietro, V., Maroofian, R., Zaki, M. S., Wangen, J., Ciolfi, A., Barresi, S., Efthymiou, S., Lamaze, A., Aughey, G. N., Al Mutairi, F., Rad, A., Rocca, C., Cali, E., Accogli, A., Zara, F., Striano, P., Mojarrad, M., Tariq, H., Giacopuzzi, E., Taylor, J. C., Oprea, G., Skrahina, V., Rehman, K. U., Abd Elmaksoud, M., Bassiony, M., El Said, H. G., Abdel-Hamid, M. S., Al Shalan, M., Seo, G., Kim, S., Lee, H., Khang, R., Issa, M. Y., Elbendary, H. M., Rafat, K., Marinakis, N. M., Traeger-Synodinos, J., Ververi, A., Sourmpi, M., Eslahi, A., Khadivi Zand, F., Beiraghi Toosi, M., Babaei, M., Jackson, A., Hannah, M. G., Bugiardini, E., Bertini, E., Kriouile, Y., El-Khorassani, M., Aguennouz, M., Groppa, S., Karashova, B. M., Goraya, J. S., Sultan, T., Avdjieva, D., Kathom, H., Tincheva, R., Banu, S., Veggiotti, P., Verrotti, A., Lanari, M., Savasta, S., Macaya, A., Garavaglia, B., Borgione, E., Papacostas, S., Vikelis, M., Chelban, V., Kaiyrzhanov, R., Cortese, A., Sullivan, R., Papanicolaou, E. Z., Dardiotis, E., Maqbool, S., Ibrahim, S., Kirmani, S., Rana, N. N., Atawneh, O., Lim, S. -Y., Zuccotti, G. V., Marseglia, G. L., Esposito, S., Shaikh, F., Cogo, P., Corsello, G., Mangano, S., Nardello, R., Mangano, D., Scardamaglia, A., Koutsis, G., Scuderi, C., Ferrara, P., Morello, G., Zollo, M., Berni-Canani, R., Terracciano, L. M., Sisto, A., Di Fabio, S., Strano, F., Scorrano, G.

مصطلحات موضوعية: GREND syndrome, GTPBP1, GTPBP2, NBIA, animal model, ectodermal disorder, neurodegeneration, neurodevelopmental disorder, ribosome stalling, ribosomopathies

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38118446; volume:111; issue:1; firstpage:200; lastpage:210; numberofpages:11; journal:AMERICAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11573/1700551Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85180561163

الإتاحة: https://doi.org/10.1016/j.ajhg.2023.11.012Test
https://hdl.handle.net/11573/1700551Test

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: Cetica, V., Pisano, T., Lesca, G., Marafi, D., Licchetta, L., Riccardi, F., Mei, D., Chung, H.B., Bayat, A., Balasubramanian, M., Lowenstein, D.H., Endzinienė, M., Alotaibi, M., Villeneuve, N., Jacobs, J., Isidor, B., Solazzi, R., den Hollander, N.S., Marjanovic, D., Rougeot‐Jung, C., Jung, J., Lesieur‐Sebellin, M., Accogli, A., Salpietro, V., Saadi, N.W., Panagiotakaki, E., Foiadelli, T., Redon, S., Tsai, M., Bisulli, F., Hammer, T.B., Lupski, J.R., Parrini, E., Guerrini, R.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/210517/1/Epilepsia%20-%202024%20-%20Cetica%20-%20Clinical%20and%20molecular%20characterization%20of%20patients%20with%20YWHAG%E2%80%90related%20epilepsy.pdfTest; Cetica, V. orcid.org/0000-0001-8549-4158 , Pisano, T. orcid.org/0000-0001-8920-9078 , Lesca, G. orcid.org/0000-0001-7691-9492 et al. (31 more authors) (2024) Clinical and molecular characterization of patients with YWHAG‐related epilepsy. Epilepsia. ISSN 0013-9580

الإتاحة: https://doi.org/10.1111/epi.17939Test
https://eprints.whiterose.ac.uk/210517Test/
https://eprints.whiterose.ac.uk/210517/1/Epilepsia%20-%202024%20-%20Cetica%20-%20Clinical%20and%20molecular%20characterization%20of%20patients%20with%20YWHAG%E2%80%90related%20epilepsy.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: Montanucci L., Lewis-Smith D., Collins R. L., Niestroj L. -M., Parthasarathy S., Xian J., Ganesan S., Macnee M., Brunger T., Thomas R. H., Talkowski M., Motelow J. E., Povysil G., Dhindsa R. S., Stanley K. E., Allen A. S., Goldstein D. B., Feng Y. -C. A., Howrigan D. P., Abbott L. E., Tashman K., Cerrato F., Cusick C., Singh T., Heyne H., Byrnes A. E., Churchhouse C., Watts N., Solomonson M., Lal D., Gupta N., Neale B. M., Berkovic S. F., Lerche H., Lowenstein D. H., Cavalleri G. L., Cossette P., Cotsapas C., De Jonghe P., Dixon-Salazar T., Guerrini R., Hakonarson H., Heinzen E. L., Helbig I., Kwan P., Marson A. G., Petrovski S., Kamalakaran S., Sisodiya S. M., Stewart R., Weckhuysen S., Depondt C., Dlugos D. J., Scheffer I. E., Striano P., Freyer C., Krause R., May P., McKenna K., Regan B. M., Bennett C. A., Leech S. L., Leu C., O'Brien T. J., Todaro M., Stamberger H., Depondti C., Andrade D. M., Ali Q. Z., Sadoway T. R., Krestel H., Schaller A., Papacostas S. S., Kousiappa I., Tanteles G. A., Yiolanda C., Sterbova K., Vlckova M., Sedlackova L., Lassuthova P., Klein K. M., Rosenow F., Reif P. S., Knake S., Neubauer B. A., Zimprich F., Feucht M., Reinthaler E., Kunz W. S., Zsurka G., Surges R., Baumgartner T. H., von Wrede R., Pendziwiat M., Muhle H., Rademacher A., van Baalen A., von Spiczak S., Stephani U., Afawi Z., Korczyn A. D., Kanaan M., Canavati C., Kurlemann G., Muller-Schluter K., Kluger G., Hausler M., Blatt I., Lemke J. R., Krey I., Weber Y. G., Wolking S., Becker F., Lauxmann S., Bosselmann C., Kegele J., Hengsbach C., Rau S., Steinhoff B. J., Schulze-Bonhage A., Borggrafe I., Schankin C. J., Schubert-Bast S., Schreiber H., Mayer T., Korinthenberg R., Brockmann K., Wolff M., Dennig D., Madeleyn R., Kalviainen R., Saarela A., Timonen O., Linnankivi T., Lehesjoki A. -E., Rheims S., Lesca G., Ryvlin P., Maillard L., Valton L., Derambure P., Bartolomei F., Hirsch E., Michel V., Chassoux F., Rees M. I., Chung S. -K., Pickrell W. O., Powell R. H. W., Baker M. D., Fonferko-Shadrach B., Lawthom C., Anderson J., Schneider N., Balestrini S., Zagaglia S., Braatz V., Johnson M. R., Auce P., Sills G. J., Baum L. W., Sham P. C., Cherny S. S., Lui C. H. T., Delanty N., Doherty C. P., Shukralla A., El-Naggar H., Widdess-Walsh P., Barisic N., Canafoglia L., Franceschetti S., Castellotti B., Granata T., Ragona F., Zara F., Iacomino M., Riva A., Madia F., Vari M. S., Salpietro V., Scala M., Mancardi M. M., Lino N., Amadori E., Giacomini T., Bisulli F., Pippucci T., Licchetta L., Minardi R., Tinuper P., Muccioli L., Mostacci B., Gambardella A., Labate A., Annesi G., Manna L., Gagliardi M., Parrini E., Mei D., Vetro A., Bianchini C., Montomoli M., Doccini V., Barba C., Hirose S., Ishii A., Suzuki T., Inoue Y., Yamakawa K., Beydoun A., Nasreddine W., Khoueiry-Zgheib N., Tumiene B., Utkus A., Sadleir L. G., King C., Caglayan S. H., Arslan M., Yapici Z., Topaloglu P., Kara B., Yis U., Turkdogan D., Gundogdu-Eken A., Bebek N., Ugur-Iseri S., Baykan B., Salman B., Haryanyan G., Yucesan E., Kesim Y., Ozkara C., Tsai M. -H., Ho C. -J., Lin C. -H., Lin K. -L., Chou I. -J., Poduri A., Shiedley B. R., Shain C., Noebels J. L., Goldman A., Busch R. M., Jehi L., Najm I. M., Ferguson L., Khoury J., Glauser T. A., Clark P. O., Buono R. J., Ferraro T. N., Sperling M. R., Lo W., Privitera M., French J. A., Schachter S., Kuzniecky R. I., Devinsky O., Hegde M., Greenberg D. A., Ellis C. A., Goldberg E., Helbig K. L., Cosico M., Vaidiswaran P., Fitch E., Newton C. R. J. C., Kariuki S. M., Wagner R. G., Owusu-Agyei S., Cole A. J., McGraw C. M., Siena S. A., Davis L., Hucks D., Faucon A., Wu D., Abou-Khalil B. W., Haas K., Taneja R. S., Epi25 Collaborative

المساهمون: Montanucci L., Lewis-Smith D., Collins R.L., Niestroj L.-M., Parthasarathy S., Xian J., Ganesan S., Macnee M., Brunger T., Thomas R.H., Talkowski M., Motelow J.E., Povysil G., Dhindsa R.S., Stanley K.E., Allen A.S., Goldstein D.B., Feng Y.-C.A., Howrigan D.P., Abbott L.E., Tashman K., Cerrato F., Cusick C., Singh T., Heyne H., Byrnes A.E., Churchhouse C., Watts N., Solomonson M., Lal D., Gupta N., Neale B.M., Berkovic S.F., Lerche H., Lowenstein D.H., Cavalleri G.L., Cossette P., Cotsapas C., De Jonghe P., Dixon-Salazar T., Guerrini R., Hakonarson H., Heinzen E.L., Helbig I., Kwan P., Marson A.G., Petrovski S., Kamalakaran S., Sisodiya S.M., Stewart R., Weckhuysen S., Depondt C., Dlugos D.J., Scheffer I.E., Striano P., Freyer C., Krause R., May P., McKenna K., Regan B.M., Bennett C.A., Leech S.L., Leu C., O'Brien T.J., Todaro M., Stamberger H., Depondti C., Andrade D.M., Ali Q.Z., Sadoway T.R., Krestel H., Schaller A., Papacostas S.S., Kousiappa I., Tanteles G.A., Yiolanda C., Sterbova K., Vlckova M., Sedlackova L., Lassuthova P., Klein K.M., Rosenow F., Reif P.S., Knake S., Neubauer B.A., Zimprich F., Feucht M., Reinthaler E., Kunz W.S., Zsurka G., Surges R., Baumgartner T.H., von Wrede R., Pendziwiat M., Muhle H., Rademacher A., van Baalen A., von Spiczak S.

مصطلحات موضوعية: copy number variant, seizure, genome wide

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37474567; info:eu-repo/semantics/altIdentifier/wos/WOS:001040020600007; volume:14; issue:1; firstpage:1; lastpage:19; numberofpages:19; journal:NATURE COMMUNICATIONS; https://hdl.handle.net/11585/957673Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85165735871; https://www.nature.com/articles/s41467-023-39539-6Test

الإتاحة: https://doi.org/10.1038/s41467-023-39539-6Test
https://hdl.handle.net/11585/957673Test
https://www.nature.com/articles/s41467-023-39539-6Test

المؤلفون: Bosch, E, Popp, B, Güse, E, Skinner, C, van der Sluijs, PJ, Maystadt, I, Pinto, AM, Renieri, A, Bruno, LP, Granata, S, Marcelis, C, Baysal, Ö, Hartwich, D, Holthöfer, L, Isidor, B, Cogne, B, Wieczorek, D, Capra, V, Scala, M, De Marco, P, Ognibene, M, Jamra, RA, Platzer, K, Carter, LB, Kuismin, O, van Haeringen, A, Maroofian, R, Valenzuela, I, Cuscó, I, Martinez-Agosto, JA, Rabani, AM, Mefford, HC, Pereira, EM, Close, C, Anyane-Yeboa, K, Wagner, M, Hannibal, MC, Zacher, P, Thiffault, I, Beunders, G, Umair, M, Bhola, PT, McGinnis, E, Millichap, J, van de Kamp, JM, Prijoles, EJ, Dobson, A, Shillington, A, Graham, BH, Garcia, EJ, Galindo, MK, Ropers, FG, Nibbeling, EAR, Hubbard, G, Karimov, C, Goj, G, Bend, R, Rath, J, Morrow, MM, Millan, F, Salpietro, V, Torella, A, Nigro, V, Kurki, M, Stevenson, RE, Santen, GWE, Zweier, M, Campeau, PM, Severino, M, Reis, A, Accogli, A, Vasileiou, G

المصدر: Genetics in Medicine , 25 (11) , Article 100950. (2023) (In press).

مصطلحات موضوعية: BAF, BAFopathy, Coffin-Siris syndrome, NDD, Nicolaides-Baraitser syndrome, SMARCC2, neurodevelopmental disorder

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10181019/1/1-s2.0-S1098360023009632-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10181019Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10181019/1/1-s2.0-S1098360023009632-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10181019Test/

المؤلفون: D’Onofrio, G, Accogli, A, Severino, M, Caliskan, H, Kokotović, T, Blazekovic, A, Jercic, KG, Markovic, S, Zigman, T, Goran, K, Barišić, N, Duranovic, V, Ban, A, Borovecki, F, Ramadža, DP, Barić, I, Fazeli, W, Herkenrath, P, Marini, C, Vittorini, R, Gowda, V, Bouman, A, Rocca, C, Alkhawaja, IA, Murtaza, BN, Rehman, MMU, Al Alam, C, Nader, G, Mancardi, MM, Giacomini, T, Srivastava, S, Alvi, JR, Tomoum, H, Matricardi, S, Iacomino, M, Riva, A, Scala, M, Madia, F, Pistorio, A, Salpietro, V, Minetti, C, Rivière, JB, Srour, M, Efthymiou, S, Maroofian, R, Houlden, H, Vernes, SC, Zara, F, Striano, P, Nagy, V

المصدر: Human Genetics (2023) (In press).

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10170801/1/s00439-023-02552-2.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10170801Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10170801/1/s00439-023-02552-2.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10170801Test/

المؤلفون: Maroofian, R, Kaiyrzhanov, R, Cali, E, Zamani, M, Zaki, MS, Ferla, M, Tortora, D, Sadeghian, S, Saadi, SM, Abdullah, U, Karimiani, EG, Efthymiou, S, Yeşil, G, Alavi, S, Al Shamsi, AM, Tajsharghi, H, Abdel-Hamid, MS, Saadi, NW, Al Mutairi, F, Alabdi, L, Beetz, C, Ali, Z, Toosi, MB, Rudnik-Schöneborn, S, Babaei, M, Isohanni, P, Muhammad, J, Khan, S, Al Shalan, M, Hickey, SE, Marom, D, Elhanan, E, Kurian, MA, Marafi, D, Saberi, A, Hamid, M, Spaull, R, Meng, L, Lalani, S, Maqbool, S, Rahman, F, Seeger, J, Palculict, TB, Lau, T, Murphy, D, Mencacci, NE, Steindl, K, Begemann, A, Rauch, A, Akbas, S, Aslanger, AD, Salpietro, V, Yousaf, H, Ben-Shachar, S, Ejeskär, K, Al Aqeel, AI, High, FA, Armstrong-Javors, AE, Zahraei, SM, Seifi, T, Zeighami, J, Shariati, G, Sedaghat, A, Asl, SN, Shahrooei, M, Zifarelli, G, Burglen, L, Ravelli, C, Zschocke, J, Schatz, UA, Ghavideldarestani, M, Kamel, WA, Van Esch, H, Hackenberg, A, Taylor, JC, Al-Gazali, L, Bauer, P, Gleeson, JJ, Alkuraya, FS, Lupski, JR, Galehdari, H, Azizimalamiri, R, Chung, WK, Baig, SM, Houlden, H, Severino, M

وصف الملف: application/pdf; application/zip

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/116030/1/awad257.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/116030/6/awad257_supplementary_data.zipTest; Maroofian, R; Kaiyrzhanov, R; Cali, E; Zamani, M; Zaki, MS; Ferla, M; Tortora, D; Sadeghian, S; Saadi, SM; Abdullah, U; et al. Maroofian, R; Kaiyrzhanov, R; Cali, E; Zamani, M; Zaki, MS; Ferla, M; Tortora, D; Sadeghian, S; Saadi, SM; Abdullah, U; Karimiani, EG; Efthymiou, S; Yeşil, G; Alavi, S; Al Shamsi, AM; Tajsharghi, H; Abdel-Hamid, MS; Saadi, NW; Al Mutairi, F; Alabdi, L; Beetz, C; Ali, Z; Toosi, MB; Rudnik-Schöneborn, S; Babaei, M; Isohanni, P; Muhammad, J; Khan, S; Al Shalan, M; Hickey, SE; Marom, D; Elhanan, E; Kurian, MA; Marafi, D; Saberi, A; Hamid, M; Spaull, R; Meng, L; Lalani, S; Maqbool, S; Rahman, F; Seeger, J; Palculict, TB; Lau, T; Murphy, D; Mencacci, NE; Steindl, K; Begemann, A; Rauch, A; Akbas, S; Aslanger, AD; Salpietro, V; Yousaf, H; Ben-Shachar, S; Ejeskär, K; Al Aqeel, AI; High, FA; Armstrong-Javors, AE; Zahraei, SM; Seifi, T; Zeighami, J; Shariati, G; Sedaghat, A; Asl, SN; Shahrooei, M; Zifarelli, G; Burglen, L; Ravelli, C; Zschocke, J; Schatz, UA; Ghavideldarestani, M; Kamel, WA; Van Esch, H; Hackenberg, A; Taylor, JC; Al-Gazali, L; Bauer, P; Gleeson, JJ; Alkuraya, FS; Lupski, JR; Galehdari, H; Azizimalamiri, R; Chung, WK; Baig, SM; Houlden, H; Severino, M (2023) Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. Brain, 146 (12). pp. 5031-5043. ISSN 1460-2156 https://doi.org/10.1093/brain/awad257Test SGUL Authors: Maroofian, Reza

الإتاحة: https://doi.org/10.1093/brain/awad257Test
https://openaccess.sgul.ac.uk/id/eprint/116030Test/
https://openaccess.sgul.ac.uk/id/eprint/116030/1/awad257.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/116030/6/awad257_supplementary_data.zipTest

المؤلفون: Accogli, A, Zaki, MS, Al-Owain, M, Otaif, MY, Jackson, A, Argilli, E, Chandler, KE, De Goede, CGEL, Cora, T, Alvi, JR, Eslahi, A, Asl Mohajeri, MS, Ashtiani, S, Au, PYB, Scocchia, A, Alakurtti, K, Pagnamenta, AT, Toosi, MB, Karimiani, EG, Mojarrad, M, Arab, F, Duymuş, F, Scantlebury, MH, Yeşil, G, Rosenfeld, JA, Türkyılmaz, A, Sağer, SG, Sultan, T, Ashrafzadeh, F, Zahra, T, Rahman, F, Maqbool, S, Abdel-Hamid, MS, Issa, MY, Efthymiou, S, Bauer, P, Zifarelli, G, Salpietro, V, Al-Hassnan, Z, Banka, S, Sherr, EH, Gleeson, JG, Striano, P, Houlden, H, Severino, M, Maroofian, R

وصف الملف: application/pdf; application/zip

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/115885/1/fcad222.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/115885/6/fcad222_supplementary_data.zipTest; Accogli, A; Zaki, MS; Al-Owain, M; Otaif, MY; Jackson, A; Argilli, E; Chandler, KE; De Goede, CGEL; Cora, T; Alvi, JR; et al. Accogli, A; Zaki, MS; Al-Owain, M; Otaif, MY; Jackson, A; Argilli, E; Chandler, KE; De Goede, CGEL; Cora, T; Alvi, JR; Eslahi, A; Asl Mohajeri, MS; Ashtiani, S; Au, PYB; Scocchia, A; Alakurtti, K; Pagnamenta, AT; Toosi, MB; Karimiani, EG; Mojarrad, M; Arab, F; Duymuş, F; Scantlebury, MH; Yeşil, G; Rosenfeld, JA; Türkyılmaz, A; Sağer, SG; Sultan, T; Ashrafzadeh, F; Zahra, T; Rahman, F; Maqbool, S; Abdel-Hamid, MS; Issa, MY; Efthymiou, S; Bauer, P; Zifarelli, G; Salpietro, V; Al-Hassnan, Z; Banka, S; Sherr, EH; Gleeson, JG; Striano, P; Houlden, H; Severino, M; Maroofian, R (2023) Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies. Brain Commun, 5 (5). fcad222. ISSN 2632-1297 https://doi.org/10.1093/braincomms/fcad222Test SGUL Authors: Karimiani, Ehsan Ghayoor

الإتاحة: https://doi.org/10.1093/braincomms/fcad222Test
https://openaccess.sgul.ac.uk/id/eprint/115885Test/
https://openaccess.sgul.ac.uk/id/eprint/115885/1/fcad222.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/115885/6/fcad222_supplementary_data.zipTest