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1دورية أكاديمية
المؤلفون: Cikes, D, Elsayad, K, Sezgin, E, Koitai, E, Ferenc, T, Orthofer, M, Yarwood, R, Heinz, LX, Sedlyarov, V, Miranda, ND, Taylor, A, Grapentine, S, al-Murshedi, F, Abot, A, Weidinger, A, Kutchukian, C, Sanchez, C, Cronin, SJF, Novatchkova, M, Kavirayani, A, Schuetz, T, Haubner, B, Haas, L, Hagelkruys, A, Jackowski, S, Kozlov, A, Jacquemond, V, Knauf, C, Superti-Furga, G, Rullman, E, Gustafsson, T, McDermot, J, Lowe, M, Radak, Z, Chamberlain, JS, Bakovic, M, Banka, S, Penninger, JM
المصدر: Nature metabolism. 5(3):495-515
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديميةTMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.
المؤلفون: Tábara, LC, Al-Salmi, F, Maroofian, R, Al-Futaisi, AM, Al-Murshedi, F, Kennedy, J, Day, JO, Courtin, T, Al-Khayat, A, Galedari, H, Mazaheri, N, Protasoni, M, Johnson, M, Leslie, JS, Salter, CG, Rawlins, LE, Fasham, J, Al-Maawali, A, Voutsina, N, Charles, P, Harrold, L, Keren, B, Kunji, ERS, Vona, B, Jelodar, G, Sedaghat, A, Shariati, G, Houlden, H, Crosby, AH, Prudent, J, Baple, EL
وصف الملف: application/pdf
العلاقة: https://openaccess.sgul.ac.uk/id/eprint/114580/1/awac123.pdfTest; Tábara, LC; Al-Salmi, F; Maroofian, R; Al-Futaisi, AM; Al-Murshedi, F; Kennedy, J; Day, JO; Courtin, T; Al-Khayat, A; Galedari, H; et al. Tábara, LC; Al-Salmi, F; Maroofian, R; Al-Futaisi, AM; Al-Murshedi, F; Kennedy, J; Day, JO; Courtin, T; Al-Khayat, A; Galedari, H; Mazaheri, N; Protasoni, M; Johnson, M; Leslie, JS; Salter, CG; Rawlins, LE; Fasham, J; Al-Maawali, A; Voutsina, N; Charles, P; Harrold, L; Keren, B; Kunji, ERS; Vona, B; Jelodar, G; Sedaghat, A; Shariati, G; Houlden, H; Crosby, AH; Prudent, J; Baple, EL (2022) TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia. Brain, 145 (9). pp. 3095-3107. ISSN 1460-2156 https://doi.org/10.1093/brain/awac123Test SGUL Authors: Maroofian, Reza
الإتاحة: https://doi.org/10.1093/brain/awac123Test
https://openaccess.sgul.ac.uk/id/eprint/114580Test/
https://openaccess.sgul.ac.uk/id/eprint/114580/1/awac123.pdfTest -
3دورية أكاديمية
المؤلفون: Broly, M., Polevoda, B. V., Awayda, K. M., Tong, N., Lentini, J., Besnard, T., Deb, W., O'Rourke, D., Baptista, J., Ellard, S., Almannai, M., Hashem, M., Abdulwahab, F., Shamseldin, H., Al-Tala, S., Alkuraya, F. S., Leon, A., van Loon, R. L. E., Ferlini, A., Sanchini, M., Bigoni, S., Ciorba, A., van Bokhoven, H., Iqbal, Z., Al-Maawali, A., Al-Murshedi, F., Ganesh, A., Al-Mamari, W., Lim, S. C., Pais, L. S., Brown, N., Riazuddin, S., Bézieau, S., Fu, D., Isidor, B., Cogné, B., O'Connell, M. R.
مصطلحات موضوعية: N4-acetylcytidine, Nat10, RNA acetylation, Thumpd1, ac4C, developmental disorder, intellectual disability, tRNA biology, tRNA modifications
العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297Test(22)00052-0; Am J Hum Genet. 2022 Feb 11:S0002-9297(22)00052-0. doi:10.1016/j.ajhg.2022.02.001.; https://rde.dspace-express.com/handle/11287/622458Test; American journal of human genetics
الإتاحة: https://doi.org/10.1016/j.ajhg.2022.02.001Test
https://rde.dspace-express.com/handle/11287/622458Test -
4دورية أكاديمية
المؤلفون: Cikes, D, Elsayad, K, Sezgin, E, Koitai, E, Torma, F, Orthofer, M, Yarwood, R, Heinz, LX, Sedlyarov, V, Miranda, ND, Taylor, A, Grapentine, S, Al-Murshedi, F, Abot, A, Weidinger, A, Kutchukian, C, Sanchez, C, Cronin, SJF, Novatchkova, M, Kavirayani, A, Schuetz, T, Haubner, B, Haas, L, Hagelkruys, A, Jackowski, S, Kozlov, AV, Jacquemond, V, Knauf, C, Superti-Furga, G, Rullman, E, Gustafsson, T, McDermot, J, Lowe, M, Radak, Z, Chamberlain, JS, Bakovic, M, Banka, S, Penninger, JM
المصدر: Nature metabolism. 5(4):711
مصطلحات موضوعية: Medicin och hälsovetenskap
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5دورية أكاديمية
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
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6دورية أكاديمية
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
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7
المؤلفون: Yuan, T., Kumar, Surinder, Skinner, Mary, Victor-Joseph, Ryan, Abuaita, Majd, Keijer, J., Zhang, Jessica, Kunkel, T.J., Liu, Yanghan, Petrunak, E.M., Saunders, T.L., Lieberman, A.P., Stuckey, J.A., Neamati, N., Al-Murshedi, F., Alfadhel, M., Spelbrink, J.N., Rodenburg, Richard J., de Boer, V.C.J., Lombard, D.B.
مصطلحات موضوعية: Life Science
وصف الملف: text/html
العلاقة: https://edepot.wur.nl/646326Test; https://research.wur.nl/en/publications/sirt5-variants-from-patients-with-mitochondrial-disease-are-assocTest
الإتاحة: https://doi.org/10.1101/2023.12.06.570371Test
https://research.wur.nl/en/publications/sirt5-variants-from-patients-with-mitochondrial-disease-are-assocTest -
8دورية أكاديمية
المؤلفون: Alfadhel M, Al Mutairi F, Makhseed N, Al Jasmi F, Al-Thihli K, Al-Jishi E, AlSayed M, Al-Hassnan ZN, Al-Murshedi F, Häberle J, Ben-Omran T
المصدر: Therapeutics and Clinical Risk Management, Vol 2016, Iss Issue 1, Pp 479-487 (2016)
مصطلحات موضوعية: Hyperammonemia, Inborn errors of metabolism, Urea cycle, Acute management, Ammonia, Middle East., Therapeutics. Pharmacology, RM1-950
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: Anazi, S, Maddirevula, S, Salpietro, V, Asi, YT, Alsahli, S, Alhashem, A, Shamseldin, HE, AlZahrani, F, Patel, N, Ibrahim, N, Abdulwahab, FM, Hashem, M, Alhashmi, N, Al Murshedi, F, Al Kindy, A, Alshaer, A, Rumayyan, A, Al Tala, S, Kurdi, W, Alsaman, A, Alasmari, A, Banu, S, Sultan, T, Saleh, MM, Alkuraya, H, Salih, MA, Aldhalaan, H, Ben-Omran, T, Al Musafri, F, Ali, R, Suleiman, J, Tabarki, B, El-Hattab, AW, Bupp, C, Alfadhel, M, Al Tassan, N, Monies, D, Arold, ST, Abouelhoda, M, Lashley, T, Houlden, H, Faqeih, E, Alkuraya, FS
المصدر: Human Genetics , 136 (11-12) pp. 1419-1429. (2017)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1576522/3/Lashley_Anazi%20S%20et%20al.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1576522Test/
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10دورية أكاديمية
المؤلفون: Ahmed, MY, Al-Khayat, A, Al-Murshedi, F, Al-Futaisi, A, Chioza, BA, Pedro Fernandez-Murray, J, Self, JE, Salter, CG, Harlalka, GV, Rawlins, LE, Al-Zuhaibi, S, Al-Azri, F, Al-Rashdi, F, Cazenave-Gassiot, A, Wenk, MR, Al-Salmi, F, Patton, MA, Silver, DL, Baple, EL, McMaster, CR, Crosby, AH
وصف الملف: application/pdf
العلاقة: https://openaccess.sgul.ac.uk/id/eprint/108687/1/aww318.pdfTest; Ahmed, MY; Al-Khayat, A; Al-Murshedi, F; Al-Futaisi, A; Chioza, BA; Pedro Fernandez-Murray, J; Self, JE; Salter, CG; Harlalka, GV; Rawlins, LE; et al. Ahmed, MY; Al-Khayat, A; Al-Murshedi, F; Al-Futaisi, A; Chioza, BA; Pedro Fernandez-Murray, J; Self, JE; Salter, CG; Harlalka, GV; Rawlins, LE; Al-Zuhaibi, S; Al-Azri, F; Al-Rashdi, F; Cazenave-Gassiot, A; Wenk, MR; Al-Salmi, F; Patton, MA; Silver, DL; Baple, EL; McMaster, CR; Crosby, AH (2017) A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis. Brain, 140 (3). pp. 547-554. ISSN 1460-2156 https://doi.org/10.1093/brain/aww318Test SGUL Authors: Patton, Michael Alexander
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