المؤلفون: Korayem GB, Alkanhal R, Almass R, Alkhunaizan S, Alharthi G, Bin Sheraim N, Alqahtani S, Alkofide H

المصدر: International Journal of General Medicine, Vol Volume 14, Pp 5079-5089 (2021)

مصطلحات موضوعية: acid suppressive therapy, overuse, hospital practice, medical ward, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://www.dovepress.com/patients-prescribers-and-institutional-factors-associated-with-inappro-peer-reviewed-fulltext-article-IJGMTest; https://doaj.org/toc/1178-7074Test

الوصول الحر: https://doaj.org/article/ca711f4bfed0424c88e1726150955cc0Test

المؤلفون: Scala, M., Wortmann, S.B., Kaya, N., Stellingwerff, M.D., Pistorio, A., Glamuzina, E., van Karnebeek, C.D., Skrypnyk, C., Iwanicka-Pronicka, K., Piekutowska-Abramczuk, D., Ciara, E., Tort, F., Sheidley, B., Poduri, A., Jayakar, P., Jayakar, A., Upadia, J., Walano, N., Haack, T.B., Prokisch, H., Aldhalaan, H., Karimiani, E.G., Yildiz, Y., Ceylan, A.C., Santiago-Sim, T., Dameron, A., Yang, H., Toosi, M.B., Ashrafzadeh, F., Akhondian, J., Imannezhad, S., Mirzadeh, H.S., Maqbool, S., Farid, A., Al-Muhaizea, M.A., Alshwameen, M.O., Aldowsari, L., Alsagob, M., Alyousef, A., AlMass, R., AlHargan, A., Alwadei, A.H., AlRasheed, M.M., Colak, D., Alqudairy, H., Khan, S., Lines, M.A., Cazorla, M.A.G., Ribes, A., Morava, E., Bierau, J., van der Knaap, Marjo S., Maroofian, Reza, Houlden, Henry H.

المصدر: Scala , M , Wortmann , S B , Kaya , N , Stellingwerff , M D , Pistorio , A , Glamuzina , E , van Karnebeek , C D , Skrypnyk , C , Iwanicka-Pronicka , K , Piekutowska-Abramczuk , D , Ciara , E , Tort , F , Sheidley , B , Poduri , A , Jayakar , P , Jayakar , A , Upadia , J , Walano , N , Haack , T B , Prokisch , H , Aldhalaan , H , Karimiani , E G , Yildiz , Y , Ceylan ....

مصطلحات موضوعية: congenital microcephaly, developmental and epileptic encephalopathy 35, heart disease, ITPA, ITPase, white matter abnormalities, NUCLEOTIDE POOLS, MUTATIONS, RETARDATION, ASSOCIATION, GROWTH

الإتاحة: https://doi.org/10.1002/humu.24326Test
https://cris.maastrichtuniversity.nl/en/publications/4a65fa63-9e65-4f68-9186-ac4e7e5c9167Test

المؤلفون: Scala, M, Wortmann, SB, Kaya, N, Stellingwerff, MD, Pistorio, A, Glamuzina, E, van Karnebeek, CD, Skrypnyk, C, Iwanicka-Pronicka, K, Piekutowska-Abramczuk, D, Ciara, E, Tort, F, Sheidley, B, Poduri, A, Jayakar, P, Jayakar, A, Upadia, J, Walano, N, Haack, TB, Prokisch, H, Aldhalaan, H, Karimiani, EG, Yildiz, Y, Ceylan, AC, Santiago-Sim, T, Dameron, A, Yang, H, Toosi, MB, Ashrafzadeh, F, Akhondian, J, Imannezhad, S, Mirzadeh, HS, Maqbool, S, Farid, A, Al-Muhaizea, MA, Alshwameen, MO, Aldowsari, L, Alsagob, M, Alyousef, A, AlMass, R, AlHargan, A, Alwadei, AH, AlRasheed, MM, Colak, D, Alqudairy, H, Khan, S, Lines, MA, Cazorla, MAG, Ribes, A, Morava, E, Bibi, F, Haider, S, Ferla, MP, Taylor, JC, Alsaif, HS, Firdous, A, Hashem, M, Shashkin, C, Koneev, K, Kaiyrzhanov, R, Efthymiou, S, Genomics, QS, Schmitt-Mechelke, T, Ziegler, A, Issa, MY, Elbendary, HM, Striano, P, Alkuraya, FS, Zaki, MS, Gleeson, JG, Barakat, TS, Bierau, J, van der Knaap, MS, Maroofian, R, Houlden, H

المصدر: Human Mutation (2022) (In press).

مصطلحات موضوعية: congenital microcephaly, developmental and epileptic encephalopathy 35, heart disease, ITPA, ITPase, white matter abnormalities

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10142352/1/Human%20Mutation%20-%202022%20-%20Scala%20-%20Clinico%E2%80%90radiological%20features%20%20molecular%20spectrum%20%20and%20identification%20of%20prognostic%20factors.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10142352Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10142352/1/Human%20Mutation%20-%202022%20-%20Scala%20-%20Clinico%E2%80%90radiological%20features%20%20molecular%20spectrum%20%20and%20identification%20of%20prognostic%20factors.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10142352Test/

المؤلفون: Sanderson, LE, Lanko, K, Alsagob, M, Almass, R, Al-Ahmadi, N, Najafi, M, Al-Muhaizea, MA, Alzaidan, H, AlDhalaan, H, Perenthaler, E, van der Linde, HC, Nikoncuk, A, Kühn, NA, Antony, D, Owaidah, TM, Raskin, S, Vieira, LGDR, Mombach, R, Ahangari, N, Silveira, TRD, Ameziane, N, Rolfs, A, Alharbi, A, Sabbagh, RM, AlAhmadi, K, Alawam, B, Ghebeh, H, AlHargan, A, Albader, AA, Binhumaid, FS, Goljan, E, Monies, D, Mustafa, OM, Aldosary, M, AlBakheet, A, Alyounes, B, Almutairi, F, Al-Odaib, A, Aksoy, DB, Basak, AN, Palvadeau, R, Trabzuni, D, Rosenfeld, JA, Karimiani, EG, Meyer, BF, Karakas, B, Al-Mohanna, F, Arold, ST, Colak, D, Maroofian, R, Houlden, H, Bertoli-Avella, AM, Schmidts, M, Barakat, TS, van Ham, TJ, Kaya, N

المصدر: Brain , 144 (3) pp. 769-780. (2021)

مصطلحات موضوعية: VPS41, cerebellar ataxia, membrane trafficking, neurodevelopmental disorder, zebrafish disease modelling

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10126143/1/awaa459.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10126143Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10126143/1/awaa459.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10126143Test/

المؤلفون: AlMuhaizea, M. (Mohammed), AlMass, R. (Rawan), AlHargan, A. (Aljouhra), AlBader, A. (Anoud), Medico Salsench, E. (Eva), Howaidi, J. (Jude), Ihinger, J. (Jacie), Karachunski, P. (Peter), Begtrup, A. (Amber), Segura Castell, M. (Monica), Bauer, P. (Peter), Bertoli Avella, A.M. (Aida), Kaya, I.H. (Ibrahim H.), AlSufayan, J. (Jumanah), AlQuait, L. (Laila), Chedrawi, A. (Aziza), Arold, S.T. (Stefan T.), Colak, D. (Dilek), Barakat, T.S. (Tahsin Stefan), Kaya, N. (Namik)

المصدر: Acta Neuropathologica

وصف الملف: application/pdf

العلاقة: http://repub.eur.nl/pub/124560Test; urn:hdl:1765/124560

الإتاحة: https://doi.org/10.1007/s00401-020-02128-8Test
http://repub.eur.nl/pub/124560Test

المؤلفون: Perenthaler, E, Nikoncuk, A, Yousefi, S, Berdowski, WM, Alsagob, M, Capo, I, van der Linde, HC, van den Berg, P, Jacobs, EH, Putar, D, Ghazvini, M, Aronica, E, van IJcken, WFJ, de Valk, WG, Medici-van den Herik, E, van Slegtenhorst, M, Brick, L, Kozenko, M, Kohler, JN, Bernstein, JA, Monaghan, KG, Begtrup, A, Torene, R, Al Futaisi, A, Al Murshedi, F, Mani, R, Al Azri, F, Kamsteeg, E-J, Mojarrad, M, Eslahi, A, Khazaei, Z, Darmiyan, FM, Doosti, M, Karimiani, EG, Vandrovcova, J, Zafar, F, Rana, N, Kandaswamy, KK, Hertecant, J, Bauer, P, AlMuhaizea, MA, Salih, MA, Aldosary, M, Almass, R, Al-Quait, L, Qubbaj, W, Coskun, S, Alahmadi, KO, Hamad, MHA, Alwadaee, S, Awartani, K, Dababo, AM, Almohanna, F, Colak, D, Dehghani, M, Mehrjardi, MYV, Gunel, M, Ercan-Sencicek, AG, Passi, GR, Cheema, HA, Efthymiou, S, Houlden, H, Bertoli-Avella, AM, Brooks, AS, Retterer, K, Maroofian, R, Kaya, N, van Ham, TJ, Barakat, TS

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/111490/1/Perenthaler2019_Article_LossOfUGP2InBrainLeadsToASever.pdfTest; Perenthaler, E; Nikoncuk, A; Yousefi, S; Berdowski, WM; Alsagob, M; Capo, I; van der Linde, HC; van den Berg, P; Jacobs, EH; Putar, D; et al. Perenthaler, E; Nikoncuk, A; Yousefi, S; Berdowski, WM; Alsagob, M; Capo, I; van der Linde, HC; van den Berg, P; Jacobs, EH; Putar, D; Ghazvini, M; Aronica, E; van IJcken, WFJ; de Valk, WG; Medici-van den Herik, E; van Slegtenhorst, M; Brick, L; Kozenko, M; Kohler, JN; Bernstein, JA; Monaghan, KG; Begtrup, A; Torene, R; Al Futaisi, A; Al Murshedi, F; Mani, R; Al Azri, F; Kamsteeg, E-J; Mojarrad, M; Eslahi, A; Khazaei, Z; Darmiyan, FM; Doosti, M; Karimiani, EG; Vandrovcova, J; Zafar, F; Rana, N; Kandaswamy, KK; Hertecant, J; Bauer, P; AlMuhaizea, MA; Salih, MA; Aldosary, M; Almass, R; Al-Quait, L; Qubbaj, W; Coskun, S; Alahmadi, KO; Hamad, MHA; Alwadaee, S; Awartani, K; Dababo, AM; Almohanna, F; Colak, D; Dehghani, M; Mehrjardi, MYV; Gunel, M; Ercan-Sencicek, AG; Passi, GR; Cheema, HA; Efthymiou, S; Houlden, H; Bertoli-Avella, AM; Brooks, AS; Retterer, K; Maroofian, R; Kaya, N; van Ham, TJ; Barakat, TS (2020) Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. Acta Neuropathol, 139 (3). pp. 415-442. ISSN 1432-0533 https://doi.org/10.1007/s00401-019-02109-6Test SGUL Authors: Maroofian, Reza

الإتاحة: https://doi.org/10.1007/s00401-019-02109-6Test
https://openaccess.sgul.ac.uk/id/eprint/111490Test/
https://openaccess.sgul.ac.uk/id/eprint/111490/1/Perenthaler2019_Article_LossOfUGP2InBrainLeadsToASever.pdfTest

المؤلفون: Chelban, V, Alsagob, M, Kloth, K, Chirita-Emandi, A, Vandrovcova, J, Maroofian, R, Davagnanam, I, Bakhtiari, S, AlSayed, MD, Rahbeeni, Z, AlZaidan, H, Malintan, NT, Johannsen, J, Efthymiou, S, Ghayoor Karimiani, E, Mankad, K, Al-Shahrani, SA, Beiraghi Toosi, M, AlShammari, M, Groppa, S, Haridy, NA, AlQuait, L, Qari, A, Huma, R, Salih, MA, Almass, R, Almutairi, FB, Hamad, MH, Alorainy, IA, Ramzan, K, Imtiaz, F, Puiu, M, Kruer, MC, Bierhals, T, Wood, NW, Colak, D, Houlden, H, Kaya, N

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/111215/6/Chelban_et_al-2019-European_Journal_of_Neurology.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/111215/1/Chelban_et_al-2019-European_Journal_of_Neurology.pdfTest; Chelban, V; Alsagob, M; Kloth, K; Chirita-Emandi, A; Vandrovcova, J; Maroofian, R; Davagnanam, I; Bakhtiari, S; AlSayed, MD; Rahbeeni, Z; et al. Chelban, V; Alsagob, M; Kloth, K; Chirita-Emandi, A; Vandrovcova, J; Maroofian, R; Davagnanam, I; Bakhtiari, S; AlSayed, MD; Rahbeeni, Z; AlZaidan, H; Malintan, NT; Johannsen, J; Efthymiou, S; Ghayoor Karimiani, E; Mankad, K; Al-Shahrani, SA; Beiraghi Toosi, M; AlShammari, M; Groppa, S; Haridy, NA; AlQuait, L; Qari, A; Huma, R; Salih, MA; Almass, R; Almutairi, FB; Hamad, MH; Alorainy, IA; Ramzan, K; Imtiaz, F; Puiu, M; Kruer, MC; Bierhals, T; Wood, NW; Colak, D; Houlden, H; Kaya, N (2020) Genetic and phenotypic characterization of NKX6‐2‐related spastic ataxia and hypomyelination. Eur J Neurol, 27 (2). pp. 334-342. ISSN 1468-1331 https://doi.org/10.1111/ene.14082Test SGUL Authors: Maroofian, Reza

الإتاحة: https://doi.org/10.1111/ene.14082Test
https://openaccess.sgul.ac.uk/id/eprint/111215Test/
https://openaccess.sgul.ac.uk/id/eprint/111215/6/Chelban_et_al-2019-European_Journal_of_Neurology.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/111215/1/Chelban_et_al-2019-European_Journal_of_Neurology.pdfTest

المؤلفون: Perenthaler, E. (Elena), Nikoncuk, A. (Anita), Yousefi, S. (Soheil), Berdowski, W.M. (Woutje M.), Alsagob, M. (Maysoon), Capo, I. (Ivan), Linde, H.C. (Herma) van der, van den Berg, P. (Paul), Jacobs, E.H. (Edwin H.), Putar, D. (Darija), Ghazvini, M. (Mehrnaz), Aronica, E.M.A. (Eleonora), IJcken, W.F.J. (Wilfred) van, de Valk, W.G. (Walter G.), Medici-van den Herik, E. (Evita), Slegtenhorst, M.A. (Marjon) van, Brick, L. (Lauren), Kozenko, M. (Mariya), Kohler, J.N. (Jennefer N.), Bernstein, J.A. (Jonathan A.), Monaghan, K.G. (Kristin G.), Begtrup, A. (Amber), Torene, R. (Rebecca), Al Futaisi, A. (Amna), Al Murshedi, F. (Fathiya), Mani, R. (Renjith), Al Azri, F. (Faisal), Kamsteeg, E.J. (Erik-Jan), Mojarrad, M. (Majid), Eslahi, A. (Atieh), Khazaei, Z. (Zaynab), Darmiyan, F.M. (Fateme Massinaei), Doosti, M. (Mohammad), Karimiani, E.G. (Ehsan Ghayoor), Vandrovcova, J. (Jana), Zafar, F. (Faisal), Rana, N. (Nuzhat), Kandaswamy, K.K. (Krishna K.), Hertecant, J. (Jozef), Bauer, P. (Peter), AlMuhaizea, M.A. (Mohammed A.), Salih, M.A. (Mustafa A.), Aldosary, M. (Mazhor), Almass, R. (Rawan), Al-Quait, L. (Laila), Qubbaj, W. (Wafa), Coskun, S. (Serdar), Alahmadi, K.O. (Khaled O.), Hamad, M.H.A. (Muddathir H. A.), Alwadaee, S. (Salem), Awartani, K. (Khalid), Dababo, A.M. (Anas M.), Almohanna, F. (Futwan), Colak, D. (Dilek), Dehghani, M. (Mohammadreza), Mehrjardi, M.Y.V. (Mohammad Yahya Vahidi), Günel, M. (Murat), Ercan-Sencicek, A.G. (A. Gulhan), Passi, G.R. (Gouri Rao), Cheema, H.A. (Huma Arshad), Efthymiou, S. (Stephanie), Houlden, H. (Henry), Bertoli Avella, A.M. (Aida), Brooks, A.S. (Alice), Retterer, K. (Kyle), Maroofian, R. (Reza), Kaya, N. (Namik), Ham, T.J. (Tjakko) van, Barakat, T.S. (Tahsin Stefan)

المصدر: Acta Neuropathologica

مصطلحات موضوعية: ATG mutations, Epileptic encephalopathy, Essential gene, Founder mutation, Genetics, Microcephaly, Recurrent mutation, Start-loss mutation, UGP2, Whole exome sequencing

وصف الملف: application/pdf

العلاقة: http://repub.eur.nl/pub/122932Test; urn:hdl:1765/122932

الإتاحة: https://doi.org/10.1007/s00401-019-02109-6Test
http://repub.eur.nl/pub/122932Test

المؤلفون: Chelban, V, Alsagob, M, Kloth, K, Chirita-Emandi, A, Vandrovcova, J, Maroofian, R, Davagnanam, I, Bakhtiari, S, AlSayed, MD, Rahbeeni, Z, AlZaidan, H, Malintan, NT, Johannsen, J, Efthymiou, S, Ghayoor Karimiani, E, Mankad, K, Al-Shahrani, SA, Beiraghi Toosi, M, AlShammari, M, Groppa, S, Haridy, NA, AlQuait, L, Qari, A, Huma, R, Salih, MA, Almass, R, Almutairi, FB, Hamad, MH, Alorainy, IA, Ramzan, K, Imtiaz, F, Puiu, M, Kruer, MC, Bierhals, T, Wood, NW, Colak, D, Houlden, H, Kaya, N

المصدر: European Journal of Neurology (2019) (In press).

مصطلحات موضوعية: hypomyelination, leukodystrophy, NKX6‐2, spastic ataxia 8, SPAX8

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10085115/1/Wood_Genetic%20and%20phenotypic%20characterization%20of%20NKX6-2-related%20spastic%20ataxia%20and%20hypomyelination_AOP.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10085115Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10085115/1/Wood_Genetic%20and%20phenotypic%20characterization%20of%20NKX6-2-related%20spastic%20ataxia%20and%20hypomyelination_AOP.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10085115Test/

المؤلفون: Chelban, V., Alsagob, M., Kloth, K., Chirita‐Emandi, A., Vandrovcova, J., Maroofian, R., Davagnanam, I., Bakhtiari, S., AlSayed, M. D., Rahbeeni, Z., AlZaidan, H., Malintan, N. T., Johannsen, J., Efthymiou, S., Ghayoor Karimiani, E., Mankad, K., Al‐Shahrani, S. A., Beiraghi Toosi, M., AlShammari, M., Groppa, S., Haridy, N. A., AlQuait, L., Qari, A., Huma, R., Salih, M. A., Almass, R., Almutairi, F. B., Hamad, M. H., Alorainy, I. A., Ramzan, K., Imtiaz, F., Puiu, M., Kruer, M. C., Bierhals, T., Wood, N. W., Colak, D., Houlden, H., Kaya, N.

المساهمون: National Institute for Health Research, National Institutes of Health, Medical Research Council, Wellcome Trust, Ataxia UK

المصدر: European Journal of Neurology ; volume 27, issue 2, page 334-342 ; ISSN 1351-5101 1468-1331

الإتاحة: https://doi.org/10.1111/ene.14082Test