المؤلفون: Almannai, M, Marafi, D, Abdel-Salam, GMH, Zaki, MS, Duan, R, Calame, D, Herman, I, Levesque, F, Elbendary, HM, Hegazy, I, Chung, WK, Kavus, H, Saeidi, K, Maroofian, R, AlHashim, A, Al-Otaibi, A, Al Madhi, A, Abou Al-Seood, HM, Alasmari, A, Houlden, H, Gleeson, JG, Hunter, JV, Posey, JE, Lupski, JR, El-Hattab, AW

المصدر: Clinical Genetics , 101 (5-6) pp. 530-540. (2022)

مصطلحات موضوعية: autophagy, autosomal recessive (AR) trait, brain atrophy, neurodevelopmental disorders (NDD), WDR45B

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10148521/2/Houlden_El-Hattab-Alkuraya%20syndrome%20caused%20by%20biallelic%20WDR45B%20pathogenic%20variants_AAM.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10148521Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10148521/2/Houlden_El-Hattab-Alkuraya%20syndrome%20caused%20by%20biallelic%20WDR45B%20pathogenic%20variants_AAM.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10148521Test/

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

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10139262/1/awab369.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10139262Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10139262/1/awab369.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10139262Test/

المؤلفون: Dworschak, GC, Punetha, J, Kalanithy, JC, Mingardo, E, Erdem, HB, Akdemir, ZC, Karaca, E, Mitani, T, Marafi, D, Fatih, JM, Jhangiani, SN, Hunter, JV, Dakal, TC, Dhabhai, B, Dabbagh, O, Alsaif, HS, Alkuraya, FS, Maroofian, R, Houlden, H, Efthymiou, S, Dominik, N, Salpietro, V, Sultan, T, Haider, S, Bibi, F, Thiele, H, Hoefele, J, Riedhammer, KM, Wagner, M, Guella, I, Demos, M, Keren, B, Buratti, J, Charles, P, Nava, C, Heron, D, Heide, S, Valkanas, E, Waddell, LB, Jones, KJ, Oates, EC, Cooper, ST, MacArthur, D, Syrbe, S, Ziegler, A, Platzer, K, Okur, V, Chung, WK, O'Shea, SA, Alcalay, R, Fahn, S, Mark, PR, Guerrini, R, Vetro, A, Hudson, B, Schnur, RE, Hoganson, GE, Burton, JE, McEntagart, M, Lindenberg, T, Yilmaz, O, Odermatt, B, Pehlivan, D, Posey, JE, Lupski, JR, Reutter, H

المصدر: Genetics in Medicine (2021)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10129773/1/s41436-021-01196-9.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10129773Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10129773/1/s41436-021-01196-9.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10129773Test/

المؤلفون: Efthymiou, S, Herman, I, Rahman, F, Anwar, N, Maroofian, R, Yip, J, Mitani, T, Calame, DG, Hunter, JV, Sutton, VR, Yilmaz Gulec, E, Duan, R, Fatih, JM, Marafi, D, Pehlivan, D, Jhangiani, SN, Gibbs, RA, Posey, JE, SYNAPS Study Group, Maqbool, S, Lupski, JR, Houlden, H

المصدر: American Journal of Medical Genetics Part A , 185 (7) pp. 2241-2249. (2021)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10127750/1/ajmg.a.62221.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10127750Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10127750/1/ajmg.a.62221.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10127750Test/

المؤلفون: Duan, R, Marafi, D, Xia, ZJ, Ng, BG, Maroofian, R, Sumya, FT, Saad, AK, Du, H, Fatih, JM, Hunter, JV, Elbendary, HM, Baig, SM, Abdullah, U, Ali, Z, Efthymiou, S, Murphy, D, Mitani, T, Withers, MA, Jhangiani, SN, Coban-Akdemir, Z, Calame, DG, Pehlivan, D, Gibbs, RA, Posey, JE, Houlden, H, Lupashin, VV, Zaki, MS, Freeze, HH, Lupski, JR

المصدر: Journal of Inherited Metabolic Disease (2023) (In press).

مصطلحات موضوعية: AOH/ROH analysis, congenital disorders of glycosylation, conserved oligomeric Golgi complex, family-based genomic analysis, retrograde vesicular transport

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10179975Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10179975Test/

المؤلفون: Rehman, AU, Najafi, M, Kambouris, M, Al-Gazali, L, Makrythanasis, P, Rad, A, Maroofian, R, Rajab, A, Stark, Z, Hunter, JV, Bakey, Z, Tokita, MJ, He, W, Vetrini, F, Petersen, A, Santoni, FA, Hamamy, H, Wu, K, Al-Jasmi, F, Helmstaedter, M, Arnold, SJ, Xia, F, Richmond, C, Liu, P, Karimiani, EG, Madani, GK, Lunke, S, El-Shanti, H, Eng, CM, Antonarakis, SE, Hertecant, J, Walkiewicz, M, Yang, Y, Schmidts, M

العلاقة: Rehman, A. U., Najafi, M., Kambouris, M., Al-Gazali, L., Makrythanasis, P., Rad, A., Maroofian, R., Rajab, A., Stark, Z., Hunter, J. V., Bakey, Z., Tokita, M. J., He, W., Vetrini, F., Petersen, A., Santoni, F. A., Hamamy, H., Wu, K., Al-Jasmi, F. ,. Schmidts, M. (2019). Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function. HUMAN MUTATION, 40 (3), pp.267-280. https://doi.org/10.1002/humu.23694Test.; http://hdl.handle.net/11343/250340Test

الإتاحة: https://doi.org/10.1002/humu.23694Test
http://hdl.handle.net/11343/250340Test

المؤلفون: Calame, DG, Herman, I, Maroofian, R, Marshall, AE, Carvalho Donis, K, Fatih, JM, Mitani, T, Du, H, Grochowski, CM, Sousa, S, Gijavanekar, C, Bakhtiari, S, Ito, YA, Rocca, C, Hunter, JV, Sutton, VR, Emrick, LT, Boycott, KM, Lossos, A, Fellig, Y, Prus, E, Kalish, Y, Meiner, V, Suerink, M, Ruivenkamp, C, Muirhead, K, Saadi, NW, Zaki, MS, Bouman, A, Barakat, TS, Skidmore, DL, Osmond, M, Oliveira Silva, T, Murphy, D, Ghayoor Karimiani, E, Jamshidi, Y, Ghanim Jaddoa, A, Tajsharghi, H, Jin, SC, Abbaszadegan, MR, Ebrahimzadeh-Vesal, R, Hosseini, S, Alavi, S, Bahreini, A, Zarean, E, Salehi, MM, Al-Sannaa, NA, Zifarelli, G, Bauer, P, Robson, S, Coban-Akdemir, Z, Travaglini, L, Nicita, F, Jhangiani, SN, Gibbs, RA, Posey, JE, Kruer, MC, Kernohan, KD, Morales Saute, JA, Houlden, H, Vanderver, A, Elsea, SH, Pehlivan, D, Marafi, D, Lupski, JR

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/114315/1/Annals%20of%20Neurology%20-%202022%20-%20Calame%20-%20Biallelic%20variants%20in%20the%20ectonucleotidase%20ENTPD1%20cause%20a%20complex%20neurodevelopmental.pdfTest; Calame, DG; Herman, I; Maroofian, R; Marshall, AE; Carvalho Donis, K; Fatih, JM; Mitani, T; Du, H; Grochowski, CM; Sousa, S; et al. Calame, DG; Herman, I; Maroofian, R; Marshall, AE; Carvalho Donis, K; Fatih, JM; Mitani, T; Du, H; Grochowski, CM; Sousa, S; Gijavanekar, C; Bakhtiari, S; Ito, YA; Rocca, C; Hunter, JV; Sutton, VR; Emrick, LT; Boycott, KM; Lossos, A; Fellig, Y; Prus, E; Kalish, Y; Meiner, V; Suerink, M; Ruivenkamp, C; Muirhead, K; Saadi, NW; Zaki, MS; Bouman, A; Barakat, TS; Skidmore, DL; Osmond, M; Oliveira Silva, T; Murphy, D; Ghayoor Karimiani, E; Jamshidi, Y; Ghanim Jaddoa, A; Tajsharghi, H; Jin, SC; Abbaszadegan, MR; Ebrahimzadeh-Vesal, R; Hosseini, S; Alavi, S; Bahreini, A; Zarean, E; Salehi, MM; Al-Sannaa, NA; Zifarelli, G; Bauer, P; Robson, S; Coban-Akdemir, Z; Travaglini, L; Nicita, F; Jhangiani, SN; Gibbs, RA; Posey, JE; Kruer, MC; Kernohan, KD; Morales Saute, JA; Houlden, H; Vanderver, A; Elsea, SH; Pehlivan, D; Marafi, D; Lupski, JR (2022) Biallelic variants in the ectonucleotidase ENTPD1 cause a complex neurodevelopmental disorder with intellectual disability, distinct white matter abnormalities, and spastic paraplegia. Ann Neurol, 92 (2). pp. 304-321. ISSN 1531-8249 https://doi.org/10.1002/ana.26381Test SGUL Authors: Jamshidi, Yalda

الإتاحة: https://doi.org/10.1002/ana.26381Test
https://openaccess.sgul.ac.uk/id/eprint/114315Test/
https://openaccess.sgul.ac.uk/id/eprint/114315/1/Annals%20of%20Neurology%20-%202022%20-%20Calame%20-%20Biallelic%20variants%20in%20the%20ectonucleotidase%20ENTPD1%20cause%20a%20complex%20neurodevelopmental.pdfTest

المؤلفون: Zufferey, F, Sherr, EH, Beckmann, ND, Hanson, E, Maillard, AM, Hippolyte, L, Mace, A, Ferrari, C, Kutalik, Z, Andrieux, J, Aylward, E, Barker, M, Bernier, R, Bouquillon, S, Conus, P, Delobel, B, Faucett, W, Goin-Kochel, RP, Grant, E, Harewood, L, Hunter, JV, Lebon, S, Ledbetter, DH, Martin, CL, Maennik, K, Martinet, D, Mukherjee, P, Ramocki, MB, Spence, SJ, Steinman, KJ, Tjernagel, J, Spiro, JE, Reymond, A, Beckmann, JS, Chung, WK, Jacquemont, S

العلاقة: pii: jmedgenet-2012-101203; Zufferey, F., Sherr, E. H., Beckmann, N. D., Hanson, E., Maillard, A. M., Hippolyte, L., Mace, A., Ferrari, C., Kutalik, Z., Andrieux, J., Aylward, E., Barker, M., Bernier, R., Bouquillon, S., Conus, P., Delobel, B., Faucett, W., Goin-Kochel, R. P., Grant, E. ,. Jacquemont, S. (2012). A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. JOURNAL OF MEDICAL GENETICS, 49 (10), pp.660-668. https://doi.org/10.1136/jmedgenet-2012-101203Test.; http://hdl.handle.net/11343/256240Test

الإتاحة: https://doi.org/10.1136/jmedgenet-2012-101203Test
http://hdl.handle.net/11343/256240Test

المؤلفون: BRUNETTI PIERRI, NICOLA, Bhattacharjee MB, Wang ZJ, Chu Z, DA Wenger, Potocki L, Hunter JV, Scaglia F.

المساهمون: BRUNETTI PIERRI, Nicola, Bhattacharjee, Mb, Wang, Zj, Chu, Z, Da, Wenger, Potocki, L, Hunter, Jv, Scaglia, F.

وصف الملف: STAMPA

العلاقة: volume:23; issue:1; firstpage:73; lastpage:78; numberofpages:6; journal:JOURNAL OF CHILD NEUROLOGY; http://hdl.handle.net/11588/363090Test

الإتاحة: http://hdl.handle.net/11588/363090Test

المؤلفون: BRUNETTI PIERRI, NICOLA, Wilfong A, Hunter JV, Craigen W.J.

المساهمون: BRUNETTI PIERRI, Nicola, Wilfong, A, Hunter, Jv, Craigen, W. J.

وصف الملف: STAMPA

العلاقة: volume:37; issue:5; firstpage:308; lastpage:311; numberofpages:4; journal:NEUROPEDIATRICS; http://hdl.handle.net/11588/363072Test

الإتاحة: http://hdl.handle.net/11588/363072Test