المؤلفون: Whitehead, M, Barkovich, M, Sidpra, J, Alves, C, Mirsky, D, Öztekin, Ö, Bhattacharya, D, Lucato, L, Sudhakar, S, Taranath, A, Andronikou, S, Prabhu, S, Aldinger, K, Haldipur, P, Millen, K, Boltshauser, E, Dobyns, W, Mankad, K, Barkovich, Anthony

المصدر: American Journal of Neuroradiology. 43(10)

مصطلحات موضوعية: Humans, Retrospective Studies, Dandy-Walker Syndrome, Cerebellum, Cysts, Neuroimaging, Magnetic Resonance Imaging, Cranial Fossa, Posterior

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7m59x2h2Test

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: Bonthrone, AF, Green, D, Morgan, AT, Mankad, K, Clark, CA, Liegeois, FJ

العلاقة: NHMRC/1105008; Bonthrone, A. F., Green, D., Morgan, A. T., Mankad, K., Clark, C. A. & Liegeois, F. J. (2024). Attention and motor profiles in children with developmental coordination disorder: A neuropsychological and neuroimaging investigation. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 66 (3), pp.362-378. https://doi.org/10.1111/dmcn.15745Test.; http://hdl.handle.net/11343/338997Test

الإتاحة: https://doi.org/10.1111/dmcn.15745Test
http://hdl.handle.net/11343/338997Test

المؤلفون: Silva, AHD, Habermann, S, Craven, CL, Bhagawati, D, O’Hare, P, Jorgensen, M, Dahl, C, Mankad, K, Thompson, DNP, Hargrave, D, Jeelani, NUO, Aquilina, K

المصدر: Child's Nervous System , 39 pp. 1509-1518. (2023)

مصطلحات موضوعية: ATRT, Posterior fossa tumour, Survival analysis

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10165897/2/Hargrave_Atypical%20teratoid%20rhabdoid%20tumours%20%28ATRTs%29%E2%80%94a%2021-year%20institutional%20experience_AAM.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10165897Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10165897Test/

المؤلفون: Cooray, S, Price-Kuehne, F, Hong, Y, Omoyinmi, E, Burleigh, A, Gilmour, KC, Ahmad, B, Choi, S, Bahar, MW, Torpiano, P, Gagunashvili, A, Jensen, B, Bellos, E, Sancho-Shimizu, V, Herberg, JA, Mankad, K, Kumar, A, Kaliakatsos, M, Worth, AJJ, Eleftheriou, D, Whittaker, E, Brogan, PA

المصدر: Frontiers in Immunology , 14 , Article 1231749. (2023)

مصطلحات موضوعية: IRAK-4, NASA, anemia, autoinflammation, neuroinflammation, splenomegaly, toll-like receptor, Humans, Leukocytes, Mononuclear, Interleukin-1 Receptor-Associated Kinases, Interleukin-6, Neuroinflammatory Diseases, Mutation

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10178178/1/Brogan_Neuroinflammation,%20autoinflammation,%20splenomegaly%20and%20anemia%20caused%20by%20bi-allelic%20mutations%20in%20IRAK4_VoR.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10178178Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10178178/1/Brogan_Neuroinflammation,%20autoinflammation,%20splenomegaly%20and%20anemia%20caused%20by%20bi-allelic%20mutations%20in%20IRAK4_VoR.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10178178Test/

المؤلفون: Kim, NN, Abdel-Mannan, O, Davidson, J, Du Pre, P, Kneen, R, Mankad, K, Hacohen, Y

المصدر: Multiple Sclerosis Journal , 29 (7) pp. 889-892. (2023)

مصطلحات موضوعية: Neuromyelitis optica spectrum disorder, mitochondrial diseases, neurogenetics, acquired demyelinating syndromes

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10176061/2/Abdel-Mannan_NMOSD%20mito%20MSJ%20submitted%20final.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10176061Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10176061/2/Abdel-Mannan_NMOSD%20mito%20MSJ%20submitted%20final.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10176061Test/

المؤلفون: Chari, A, Sedlacik, J, Seunarine, K, Piper, RJ, Hales, P, Shmueli, K, Mankad, K, Löbel, U, Eltze, C, Moeller, F, Scott, RC, Tisdall, MM, Cross, JH, Carmichael, DW

المصدر: American Journal of Neuroradiology (2023) (In press).

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10174242/1/ajnr.A7929.full.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10174242Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10174242/1/ajnr.A7929.full.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10174242Test/

المؤلفون: Ververi, A, Zagaglia, S, Menzies, L, Baptista, J, Caswell, R, Baulac, S, Ellard, S, Lynch, S, Consortium, GER, Jacques, TS, Chawla, MS, Heier, M, Kulseth, MA, Mero, I-L, Våtevik, AK, Kraoua, I, Rhouma, HB, Younes, TB, Miladi, Z, Turki, IBY, Jones, WD, Clement, E, Eltze, C, Mankad, K, Merve, A, Parker, J, Hoskins, B, Pressler, R, Sudhakar, S, DeVile, C, Homfray, T, Kaliakatsos, M, Ponnudas, PP, Robinson, R, Keim, SMB, Habibi, I, Reymond, A, Sisodiya, SM, Hurst, JA

وصف الملف: application/pdf; application/vnd.ms-excel; application/vnd.openxmlformats-officedocument.wordprocessingml.document

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/115070/1/ddac225.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/115070/6/supplemental_table_1_tiered_variants_from_wgs_of_patient_1_ddac225.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/115070/7/supplemental_table_2-shared_rare_variants_patients_6_and_7_ddac225.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/115070/8/supplemental_table_3-roh_comparison_patients_1_2_3_and_4-revised_ddac225.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/115070/9/supplement_1_ddac225.docxTest; https://openaccess.sgul.ac.uk/id/eprint/115070/11/supplement_2_revised_ddac225.docxTest; Ververi, A; Zagaglia, S; Menzies, L; Baptista, J; Caswell, R; Baulac, S; Ellard, S; Lynch, S; Consortium, GER; Jacques, TS; et al. Ververi, A; Zagaglia, S; Menzies, L; Baptista, J; Caswell, R; Baulac, S; Ellard, S; Lynch, S; Consortium, GER; Jacques, TS; Chawla, MS; Heier, M; Kulseth, MA; Mero, I-L; Våtevik, AK; Kraoua, I; Rhouma, HB; Younes, TB; Miladi, Z; Turki, IBY; Jones, WD; Clement, E; Eltze, C; Mankad, K; Merve, A; Parker, J; Hoskins, B; Pressler, R; Sudhakar, S; DeVile, C; Homfray, T; Kaliakatsos, M; Ponnudas, PP; Robinson, R; Keim, SMB; Habibi, I; Reymond, A; Sisodiya, SM; Hurst, JA (2023) Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria. Hum Mol Genet, 32 (4). pp. 580-594. ISSN 1460-2083 https://doi.org/10.1093/hmg/ddac225Test SGUL Authors: Homfray, Tessa

الإتاحة: https://doi.org/10.1093/hmg/ddac225Test
https://openaccess.sgul.ac.uk/id/eprint/115070Test/
https://openaccess.sgul.ac.uk/id/eprint/115070/1/ddac225.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/115070/6/supplemental_table_1_tiered_variants_from_wgs_of_patient_1_ddac225.xlsxTest
https://openaccess.sgul.ac.uk/id/eprint/115070/7/supplemental_table_2-shared_rare_variants_patients_6_and_7_ddac225.xlsxTest
https://openaccess.sgul.ac.uk/id/eprint/115070/8/supplemental_table_3-roh_comparison_patients_1_2_3_and_4-revised_ddac225.xlsxTest
https://openaccess.sgul.ac.uk/id/eprint/115070/9/supplement_1_ddac225.docxTest
https://openaccess.sgul.ac.uk/id/eprint/115070/11/supplement_2_revised_ddac225.docxTest

المؤلفون: Paddock, M., Choudhary, A.K., Jeanes, A., Mankad, K., Mannes, I., Raissaki, M., Adamsbaum, C., Argyropoulou, M.I., van Rijn, R.R., Offiah, A.C.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/197731/1/s00247-023-05618-5.pdfTest; Paddock, M. orcid.org/0000-0003-4508-8803 , Choudhary, A.K. orcid.org/0000-0002-2338-5906 , Jeanes, A. orcid.org/0000-0003-0184-9877 et al. (7 more authors) (2023) Controversial aspects of imaging in child abuse: a second roundtable discussion from the ESPR child abuse taskforce. Pediatric Radiology, 53. pp. 739-751. ISSN 0301-0449

الإتاحة: https://doi.org/10.1007/s00247-023-05618-5Test
https://eprints.whiterose.ac.uk/197731Test/
https://eprints.whiterose.ac.uk/197731/1/s00247-023-05618-5.pdfTest

المؤلفون: Raissaki, M., Adamsbaum, C., Argyropoulou, M.I., Choudhary, A.K., Jeanes, A., Mankad, K., Mannes, I., Van Rijn, R.R., Offiah, A.C.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/197733/1/s00247-023-05611-y.pdfTest; Raissaki, M. orcid.org/0000-0001-5281-475X , Adamsbaum, C. orcid.org/0000-0003-1067-0529 , Argyropoulou, M.I. orcid.org/0000-0001-7236-3706 et al. (6 more authors) (2023) Benign enlargement of the subarachnoid spaces and subdural collections—when to evaluate for abuse. Pediatric Radiology, 53. pp. 752-767. ISSN 0301-0449

الإتاحة: https://doi.org/10.1007/s00247-023-05611-yTest
https://eprints.whiterose.ac.uk/197733Test/
https://eprints.whiterose.ac.uk/197733/1/s00247-023-05611-y.pdfTest