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1Academic Journal
المؤلفون: Deng, R, Medico-Salsench, E, Nikoncuk, A, Ramakrishnan, R, Lanko, K, Kühn, NA, van der Linde, HC, Lor-Zade, S, Albuainain, F, Shi, Y, Yousefi, S, Capo, I, van den Herik, EM, van Slegtenhorst, M, van Minkelen, R, Geeven, G, Mulder, MT, Ruijter, GJG, Lütjohann, D, Jacobs, EH, Houlden, H, Pagnamenta, AT, Metcalfe, K, Jackson, A, Banka, S, De Simone, L, Schwaede, A, Kuntz, N, Palculict, TB, Abbas, S, Umair, M, AlMuhaizea, M, Colak, D, AlQudairy, H, Alsagob, M, Pereira, C, Trunzo, R, Karageorgou, V, Bertoli-Avella, AM, Bauer, P, Bouman, A, Hoefsloot, LH, van Ham, TJ, Issa, M, Zaki, MS, Gleeson, JG, Willemsen, R, Kaya, N, Arold, ST, Maroofian, R, Sanderson, LE, Barakat, TS
المصدر: Acta Neuropathologica (2023) (In press).
مصطلحات موضوعية: AMFR, Cholesterol metabolism, Genetics, Hereditary spastic paraplegia, Neurology, Precision medicine, Statin, Whole genome sequencing, Zebrafish disease modeling
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10169693/1/s00401-023-02579-9.pdf; https://discovery.ucl.ac.uk/id/eprint/10169693/
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2Academic Journal
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
Relation: https://discovery.ucl.ac.uk/id/eprint/10126143/1/awaa459.pdf; https://discovery.ucl.ac.uk/id/eprint/10126143/
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3Academic Journal
المؤلفون: Wei, Ren, Oeser, Thorsten, Then, Johannes, Kühn, Nancy, Barth, Markus, Schmidt, Juliane, Zimmermann, Wolfgang
Thesis Advisors: Universität Leipzig
المصدر: AMB Express 2014, 4:44 doi:10.1186/s13568-014-0044-9
مصطلحات موضوعية: info:eu-repo/classification/ddc/570, ddc:570, Hydrolase, synthetische Polyester, Polyethylenterephthalat, Thermonospora curvata, Polyester hydrolase, Synthetic polyester, Polyethylene terephthalate (PET), Thermomonospora curvata
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