المؤلفون: Fasham, J, Huebner, AK, Liebmann, L, Khalaf-Nazzal, R, Maroofian, R, Kryeziu, N, Wortmann, SB, Leslie, JS, Ubeyratna, N, Mancini, GMS, van Slegtenhorst, M, Wilke, M, Haack, TB, Shamseldin, HE, Gleeson, JG, Almuhaizea, M, Dweikat, I, Abu-Libdeh, B, Daana, M, Zaki, MS, Wakeling, MN, McGavin, L, Turnpenny, PD, Alkuraya, FS, Houlden, H, Schlattmann, P, Kaila, K, Crosby, AH, Baple, EL, Hübner, CA

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/115896/1/awad235.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/115896/6/awad235_supplementary_data.pdfTest; Fasham, J; Huebner, AK; Liebmann, L; Khalaf-Nazzal, R; Maroofian, R; Kryeziu, N; Wortmann, SB; Leslie, JS; Ubeyratna, N; Mancini, GMS; et al. Fasham, J; Huebner, AK; Liebmann, L; Khalaf-Nazzal, R; Maroofian, R; Kryeziu, N; Wortmann, SB; Leslie, JS; Ubeyratna, N; Mancini, GMS; van Slegtenhorst, M; Wilke, M; Haack, TB; Shamseldin, HE; Gleeson, JG; Almuhaizea, M; Dweikat, I; Abu-Libdeh, B; Daana, M; Zaki, MS; Wakeling, MN; McGavin, L; Turnpenny, PD; Alkuraya, FS; Houlden, H; Schlattmann, P; Kaila, K; Crosby, AH; Baple, EL; Hübner, CA (2023) SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission. Brain, 146 (11). pp. 4547-4561. ISSN 1460-2156 https://doi.org/10.1093/brain/awad235Test SGUL Authors: Maroofian, Reza

الإتاحة: https://doi.org/10.1093/brain/awad235Test
https://openaccess.sgul.ac.uk/id/eprint/115896Test/
https://openaccess.sgul.ac.uk/id/eprint/115896/1/awad235.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/115896/6/awad235_supplementary_data.pdfTest

المؤلفون: Khalaf-Nazzal, R., Fasham, J., Inskeep, K. A., Blizzard, L. E., Leslie, J. S., Wakeling, M. N., Ubeyratna, N., Mitani, T., Griffith, J. L., Baker, W., Al-Hijawi, F., Keough, K. C., Gezdirici, A., Pena, L., Spaeth, C. G., Turnpenny, P. D., Walsh, J. R., Ray, R., Neilson, A., Kouranova, E., Cui, X., Curiel, D. T., Pehlivan, D., Akdemir, Z. C., Posey, J. E., Lupski, J. R., Dobyns, W. B., Stottmann, R. W., Crosby, A. H., Baple, E. L.

مصطلحات موضوعية: Humans, Animals, Mice, Lissencephaly/genetics, Alleles, Tubulin/genetics, Phenotype, Nervous System Malformations/genetics, Classical Lissencephalies and Subcortical Band Heterotopias/genetics, Knockout, Microtubule-Associated Proteins/genetics, Mark2, agyria, autosomal recessive, lissencephaly, neurodevelopmental disorder, pachygyria, patronin, tubulinopathy

العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297Test(22)00415-3; Am J Hum Genet. 2022 Nov 3;109(11):2068-2079. doi:10.1016/j.ajhg.2022.09.012. Epub 2022 Oct 24.; https://rde.dspace-express.com/handle/11287/622694Test; American journal of human genetics; PMC9674946

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.09.012Test
https://rde.dspace-express.com/handle/11287/622694Test

المؤلفون: Leslie, J. S., Hjeij, R., Vivante, A., Bearce, E. A., Dyer, L., Wang, J., Rawlins, L., Kennedy, J., Ubeyratna, N., Fasham, J., Irons, Z. H., Craig, S. B., Koenig, J., George, S., Pode-Shakked, B., Bolkier, Y., Barel, O., Mane, S., Frederiksen, K. K., Wenger, O., Scott, E., Cross, H. E., Lorentzen, E., Norris, D. P., Anikster, Y., Omran, H., Grimes, D. T., Crosby, A. H., Baple, E. L.

مصطلحات موضوعية: Daw1, Heterotaxy, Left-right asymmetry, Motile cilia, Primary ciliary dyskinesia

العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S1098-3600Test(22)00870-X; Genet Med. 2022 Sep 7:S1098-3600(22)00870-X. doi:10.1016/j.gim.2022.07.019.; https://rde.dspace-express.com/handle/11287/622663Test; Genetics in medicine

الإتاحة: https://doi.org/10.1016/j.gim.2022.07.019Test
https://rde.dspace-express.com/handle/11287/622663Test

المؤلفون: Khalaf-Nazzal, R., Dweikat, I., Ubeyratna, N., Fasham, J., Alawneh, M., Leslie, J., Maree, M., Gunning, A., Zayed, D. Z., Voutsina, N., McGavin, L., Sawafta, R., Owens, M., Baker, W., Turnpenny, P., Al-Hijawi, F., Baple, E. L., Crosby, A. H., Rawlins, L. E.

مصطلحات موضوعية: Palestinian, Tecpr2, autonomic neuropathy, autophagy, encephalopathy

العلاقة: https://doi.org/10.1002/ajmg.a.63579Test; Khalaf-Nazzal R, Dweikat I, Ubeyratna N, Fasham J, Alawneh M, Leslie J, et al. TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from Palestine. Am J Med Genet A. 2024:e63579.; American journal of medical genetics. Part A; https://hdl.handle.net/11287/623162Test

الإتاحة: https://doi.org/10.1002/ajmg.a.63579Test
https://hdl.handle.net/11287/623162Test

المؤلفون: Khalaf-Nazzal, R, Fasham, J, Ubeyratna, N, Evans, DJ, Leslie, JS, Warner, TT, Al-Hijawi, F, Alshaer, S, Baker, W, Turnpenny, PD, Baple, EL, Crosby, AH

المصدر: Brain Sciences , 11 (5) , Article 614. (2021)

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Neurosciences, Neurosciences & Neurology, HSP, hereditary spastic paraplegia, PTPN23, protein tyrosine phosphatase, ESCRT, PROTEIN-TYROSINE PHOSPHATASES, TROYER-SYNDROME, MUTATIONS, HD-PTP/PTPN23, SPARTIN, DOMAIN, SPG20

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10139089/1/brainsci-11-00614.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10139089Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10139089/1/brainsci-11-00614.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10139089Test/

المؤلفون: Fasham, J., Huebner, A. K., Liebmann, L., Khalaf-Nazzal, R., Maroofian, R., Kryeziu, N., Wortmann, S. B., Leslie, J. S., Ubeyratna, N., Mancini, G. M. S., van Slegtenhorst, M., Wilke, M., Haack, T. B., Shamseldin, H., Gleeson, J. G., Almuhaizea, M., Dweikat, I., Abu-Libdeh, B., Daana, M., Zaki, M. S., Wakeling, M. N., McGavin, L., Turnpenny, P. D., Alkuraya, F. S., Houlden, H., Schlattmann, P., Kaila, K., Crosby, A. H., Baple, E. L., Hübner, C. A.

مصطلحات موضوعية: Nbcn2, Ncbe, acid-base, gamma aminobutyric acid, intellectual disability

العلاقة: Fasham J, Huebner AK, Liebmann L, Khalaf-Nazzal R, Maroofian R, Kryeziu N, et al. SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission. Brain : a journal of neurology. 2023.; Brain : a journal of neurology; https://hdl.handle.net/11287/622913Test

الإتاحة: https://doi.org/10.1093/brain/awad235Test
https://hdl.handle.net/11287/622913Test