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1دورية أكاديمية
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
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10169693/1/s00401-023-02579-9.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10169693Test/
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2دورية أكاديمية
المؤلفون: Alabdulrazzaq, F, Alanzi, T, Al‐Balool, HH, Gardham, A, Wakeling, E, Leitch, HG, AlSayed, M, Abdulrahim, M, Aladwani, A, Romito, A, Kampe, K, Ferdinandusse, S, Aboelanine, AH, Abdullah, A, Alwadani, A, Bastaki, L, Vaz, FM, Bertoli‐Avella, AM, Marafi, D
المصدر: 15 ; 1
العلاقة: Molecular Genetics and Genomic Medicine; http://hdl.handle.net/10044/1/106315Test
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3دورية أكاديمية
المؤلفون: Dafsari, HS, Pemberton, JG, Ferrer, EA, Yammine, T, Farra, C, Mohammadi, MH, Ghayoor Karimiani, E, Hashemi, N, Souaid, M, Sabbagh, S, Najarzadeh Torbati, P, Khan, S, Roze, E, Moreno-De-Luca, A, Bertoli-Avella, AM, Houlden, H, Balla, T, Maroofian, R
المصدر: Annals of Clinical and Translational Neurology (2022) (In press).
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10153127/7/Maroofian_PI4K2A%20deficiency%20causes%20innate%20error%20in%20intracellular%20trafficking%20with%20developmental%20and%20epileptic-dyskinetic%20encephalopathy_AOP.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10153127Test/
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4دورية أكاديمية
المؤلفون: Kraatari-Tiri, M, Soikkonen, L, Myllykoski, M, Jamshidi, Y, Karimiani, EG, Komulainen-Ebrahim, J, Kallankari, H, Mignot, C, Depienne, C, Keren, B, Nougues, M-C, Alsahlawi, Z, Romito, A, Martini, J, Toosi, MB, Carroll, CJ, Tripolszki, K, Bauer, P, Uusimaa, J, Bertoli-Avella, AM, Koivunen, P, Rahikkala, E
وصف الملف: application/pdf
العلاقة: https://openaccess.sgul.ac.uk/id/eprint/114645/6/Clinical%20Genetics%20-%202022%20-%20Kraatari%E2%80%90Tiri%20-%20HIDEA%20syndrome%20is%20caused%20by%20biallelic%20pathogenic%20rare%20or%20founder%20P4HTM.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/114645/1/Clinical%20Genetics%20-%202022%20-%20Kraatari%E2%80%90Tiri%20-%20HIDEA%20syndrome%20is%20caused%20by%20biallelic%20pathogenic%20rare%20or%20founder%20P4HTM.pdfTest; Kraatari-Tiri, M; Soikkonen, L; Myllykoski, M; Jamshidi, Y; Karimiani, EG; Komulainen-Ebrahim, J; Kallankari, H; Mignot, C; Depienne, C; Keren, B; et al. Kraatari-Tiri, M; Soikkonen, L; Myllykoski, M; Jamshidi, Y; Karimiani, EG; Komulainen-Ebrahim, J; Kallankari, H; Mignot, C; Depienne, C; Keren, B; Nougues, M-C; Alsahlawi, Z; Romito, A; Martini, J; Toosi, MB; Carroll, CJ; Tripolszki, K; Bauer, P; Uusimaa, J; Bertoli-Avella, AM; Koivunen, P; Rahikkala, E (2022) HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein. Clin Genet, 102 (5). pp. 444-450. ISSN 1399-0004 https://doi.org/10.1111/cge.14203Test SGUL Authors: Jamshidi, Yalda
الإتاحة: https://doi.org/10.1111/cge.14203Test
https://openaccess.sgul.ac.uk/id/eprint/114645Test/
https://openaccess.sgul.ac.uk/id/eprint/114645/6/Clinical%20Genetics%20-%202022%20-%20Kraatari%E2%80%90Tiri%20-%20HIDEA%20syndrome%20is%20caused%20by%20biallelic%20pathogenic%20rare%20or%20founder%20P4HTM.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/114645/1/Clinical%20Genetics%20-%202022%20-%20Kraatari%E2%80%90Tiri%20-%20HIDEA%20syndrome%20is%20caused%20by%20biallelic%20pathogenic%20rare%20or%20founder%20P4HTM.pdfTest -
5دورية أكاديمية
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/
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6دورية أكاديمية
المؤلفون: Dupont, J, Vieira, JP, Tavares, AL, Conceição, C, Khan, S, Bertoli-Avella, AM, Sousa, AB
مصطلحات موضوعية: NEUROG1, Aplasia/Hypoplasia, Congenital cranial dysinnervation disorder, Oromotor dysfunction, Sensorineural deafness, Vestibulo-cochlear nerve aplasia, HDE NEU PED, HDE NRAD
العلاقة: Clin Genet . 2021 Apr;99(4):588-593; http://hdl.handle.net/10400.17/3715Test
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7دورية أكاديمية
المؤلفون: Massadeh, S, Alhashem, A, De Graaf - van de Laar, Ingrid, Alhabshan, F, Ordonez, N, Alawbathani, S, Khan, S, Kabbani, MS, Chaikhouni, F, Sheereen, A, Almohammed, I, Alghamdi, B, Mulder, Ingrid, Ahmad, S, Beetz, C, Bauer, P, Wessels, Marja, Alaamery, M, Bertoli Avella, AM
المصدر: Massadeh , S , Alhashem , A , De Graaf - van de Laar , I , Alhabshan , F , Ordonez , N , Alawbathani , S , Khan , S , Kabbani , MS , Chaikhouni , F , Sheereen , A , Almohammed , I , Alghamdi , B , Mulder , I , Ahmad , S , Beetz , C , Bauer , P , Wessels , M , Alaamery , M & Bertoli Avella , AM 2020 , ' ADAMTS19-associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype ' , Clinical ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1111/cge.13760Test
https://pure.eur.nl/en/publications/1c7efecf-6b63-49e1-97f0-e55faecb4914Test
https://pure.eur.nl/ws/files/48327987/Repub_127545.pdfTest -
8دورية 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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9دورية 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
المصدر: Acta Neuropathologica (2019) (In press).
مصطلحات موضوعية: ATG mutations, Epileptic encephalopathy, Essential gene, Founder mutation, Genetics, Microcephaly, Recurrent mutation, Start-loss mutation, UGP2, Whole exome sequencing
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10088769/1/Perenthaler2019_Article_LossOfUGP2InBrainLeadsToASever.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10088769Test/
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10دورية أكاديمية
المؤلفون: Meuwissen, Marije, Schot, Rachel, Buta, S, Oudesluijs, Grietje, Tinschert, S, Speer, SD, Li, Z, Unen, Leontine, Heijsman, Daphne, Goldmann, T, Lequin, MH, Kros, J.M., Stam, W (Wendy), Hermann, M, Willemsen, Rob, Brouwer, Rutger, van Ijcken, Wilfred, Martin-Fernandez, M, Coo, IFM, Dudink, J, Vries, Femke, Bertoli Avella, AM, Prinz, M, Crow, YJ, Verheijen, Frans, Pellegrini, S, Bogunovic, D, Verheijen - Mancini, Grazia
المصدر: Meuwissen , M , Schot , R , Buta , S , Oudesluijs , G , Tinschert , S , Speer , SD , Li , Z , Unen , L , Heijsman , D , Goldmann , T , Lequin , MH , Kros , J M , Stam , W , Hermann , M , Willemsen , R , Brouwer , R , van Ijcken , W , Martin-Fernandez , M , Coo , IFM , Dudink , J , Vries , F , Bertoli Avella , AM , Prinz , M , Crow , YJ , ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1084/jem.20151529Test
https://pure.eur.nl/en/publications/d8bd79d6-8afc-4717-b8c7-c9869871f0b5Test
https://pure.eur.nl/ws/files/47670676/REPUB_96411_OA.pdfTest
http://hdl.handle.net/1765/96411Test
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