نتائج البحث - "Ghazvini M"

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

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4

دورية أكاديمية

Modeling Rett Syndrome With Human Patient-Specific Forebrain Organoids

المؤلفون: Gomes, AR, Fernandes, TG, Vaz, SH, Silva, TP, Bekman, EP, Xapelli, S, Duarte, S, Ghazvini, M, Gribnau, J, Muotri, AR, Trujillo, CA, Sebastião, AM, Cabral, JM, Diogo, MM

مصطلحات موضوعية: Rett syndrome, Disease modeling, Human induced pluripotent stem cells, Neurodevelopmental disorders, HDE NEU PED

العلاقة: Front Cell Dev Biol . 2020 Dec 10;8:61042; http://hdl.handle.net/10400.17/3722Test

الإتاحة: https://doi.org/10.3389/fcell.2020.610427Test
http://hdl.handle.net/10400.17/3722Test

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5

دورية أكاديمية

LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study

المؤلفون: Quadri M, Mandemakers W, Grochowska MM, Masius R, Geut H, Fabrizio E, Breedveld GJ, Kuipers D, Minneboo M, Vergouw LJM, Carreras Mascaro A, Yonova-Doing E, Simons E, Zhao T, Di Fonzo AB, Chang HC, Parchi P, Melis M, Correia Guedes L, CRISCUOLO, TERESA CAROLA, Thomas A, Brouwer RWW, Heijsman D, Ingrassia AMT, Calandra Buonaura G, Rood JP, Capellari S, Rozemuller AJ, Sarchioto M, Fen Chien H, Vanacore N, Olgiati S, Wu-Chou YH, Yeh TH, Boon AJW, Hoogers SE, Ghazvini M, IJpma AS, van IJcken WFJ, Onofrj M, Barone P, Nicholl DJ, Puschmann A, De Mari M, Kievit AJ, Barbosa E, De Michele G, Majoor-Krakauer D, van Swieten JC, de Jong FJ, Ferreira JJ, Cossu G, Lu CS, Meco G, Cortelli P, van de Berg WDJ, Bonifati V, International Parkinsonism Genetics Network.

المساهمون: Quadri, M, Mandemakers, W, Grochowska, Mm, Masius, R, Geut, H, Fabrizio, E, Breedveld, Gj, Kuipers, D, Minneboo, M, Vergouw, Ljm, Carreras Mascaro, A, Yonova-Doing, E, Simons, E, Zhao, T, Di Fonzo, Ab, Chang, Hc, Parchi, P, Melis, M, Correia Guedes, L, Criscuolo, TERESA CAROLA, Thomas, A, Brouwer, Rww, Heijsman, D, Ingrassia, Amt, Calandra Buonaura, G, Rood, Jp, Capellari, S, Rozemuller, Aj, Sarchioto, M, Fen Chien, H, Vanacore, N, Olgiati, S, Wu-Chou, Yh, Yeh, Th, Boon, Ajw, Hoogers, Se, Ghazvini, M, Ijpma, A, van IJcken, Wfj, Onofrj, M, Barone, P, Nicholl, Dj, Puschmann, A, De Mari, M, Kievit, Aj, Barbosa, E, De Michele, G, Majoor-Krakauer, D, van Swieten, Jc, de Jong, Fj, Ferreira, Jj, Cossu, G, Lu, C, Meco, G, Cortelli, P, van de Berg, Wdj, Bonifati, V, International Parkinsonism Genetics, Network.

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29887161; info:eu-repo/semantics/altIdentifier/wos/WOS:000436495200015; volume:17; firstpage:597; lastpage:608; numberofpages:12; journal:LANCET NEUROLOGY; http://hdl.handle.net/11564/695539Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85048008823

الإتاحة: https://doi.org/10.1016/S1474-4422Test(18)30179-0
http://hdl.handle.net/11564/695539Test

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6

دورية أكاديمية

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

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

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7

دورية أكاديمية

Liver and serum lipids in Wistar rats fed a novel structured lipid containing conjugated linoleic acid and conjugated linolenic acid ; Lípidos hepáticos y séricos en ratas Wistar alimentadas con nuevos lípidos estructurados que contienen ácido linoleico conjugado y ácido linolénico conjugado

المؤلفون: Shagholian, M., Goli, S. A.H., Shirvani, A., Agha-Ghazvini, M. R., Asgary, S.

المصدر: Grasas y Aceites; Vol. 70 No. 2 (2019); e307 ; Grasas y Aceites; Vol. 70 Núm. 2 (2019); e307 ; 1988-4214 ; 0017-3495 ; 10.3989/gya.2019.v70.i2

مصطلحات موضوعية: CLA oil, Fatty acids, HDL-C, LDL-C, Pomegranate seed oil, Aceite de CLA, Aceite de semilla de granada, Ácidos grasos

وصف الملف: text/html; application/pdf; application/xml

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Lipids Health and Dis. 24, 1–7.; Fadavi A, Barzegar M, Azizi MH. 2006. Determination of fatty acids and total lipid content in oilseed of 25 pomegranates varieties grown in Iran. J. Food Compos. Anal. 19, 676–680. https://doi.org/10.1016/j.jfca.2004.09.002Test; Farmani J, Hamedi M. 2006. Application of palm olein in the production of zero-trans Iranian vanaspati through enzymatic interesterification. Eur. J. Lipid Sci. Technol. 108, 636–643. https://doi.org/10.1002/ejlt.200600025Test; Folch J, Lees M, Sloane-Stanley GH. 1975. A simple method for the isolation and purification of total lipids from animal tissue. J. Biol. Chem. 226, 497–509.; Franczyk-Zarów M, Czyzynska I, Drahun A, Maslak E, Ch?opicki S, Kostogrys RB. 2015. Margarine supplemented with conjugated linolenic acid (CLnA) has no effect on atherosclerosis but alleviates the liver steatosis and affects the expression of lipid metabolism genes in apoE/LDLR- /- mice. Eur. J. Lipid Sci. 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