المؤلفون: Fasham, J.

المساهمون: Baple, Emma, Crosby, Andrew, James, Unay

مصطلحات موضوعية: Exome, Genome, GABA, Neuronal migration disorder, Palestinian, Amish, CAMSAP, microtubule, genetically isolated, SCN9A, SLC4A10, epilepsy

الوصول الحر: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.872469Test

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

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

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

المؤلفون: Ma, Y., Wang, X., Shoshany, N., Jiao, X., Lee, A., Ku, G., Baple, E. L., Fasham, J., Nadeem, R., Naeem, M. A., Riazuddin, S., Riazuddin, S. A., Crosby, A. H., Hejtmancik, J. F.

مصطلحات موضوعية: Clcc1, Pakistan, founder mutation, haplotype analysis, mutation age estimate, retinitis pigmenstosa, commercial or financial relationships that could be construed as a potential, conflict of interest

العلاقة: https://doi.org/10.3389/fgene.2022.804924Test; Front Genet. 2022 Mar 22;13:804924. doi:10.3389/fgene.2022.804924. eCollection 2022.; https://rde.dspace-express.com/handle/11287/622654Test; Frontiers in genetics; PMC8980549

الإتاحة: https://doi.org/10.3389/fgene.2022.804924Test
https://rde.dspace-express.com/handle/11287/622654Test

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: Salter, C. G., Cai, Y., Lo, B., Helman, G., Taylor, H., McCartney, A., Leslie, J. S., Accogoli, A., Zara, F., Traverso, M., Fasham, J., Lees, J. A., Ferla, M., Chioza, B. A., Wenger, O., Scott, E., Cross, H. E., Crawford, J., Warshawsky, I., Keisling, M., Agamanolis, D., Melver, C. W., Cox, H., Elawad, M., Marton, T., Wakeling, M., Holzinger, D., Tippelt, S., Munteanu, M., Valcheva, D., Deal, C., Van Meerbeke, S., Vockley, C. W., Butte, M. J., Acar, U., van der Knaap, M. S., Korenke, G. C., Kotzaeridou, U., Balla, T., Simons, C., Uhlig, H. H., Crosby, A. H., De Camilli, P., Wolf, N. I., Baple, E. L.

مصطلحات موضوعية: Fam126a, Pi4ka, Ttc7a, hypomyelinating leukodystrophy, multiple intestinal atresia

العلاقة: Brain. 2021 Aug 20:awab313. doi:10.1093/brain/awab313.; https://rde.dspace-express.com/handle/11287/622145Test; Brain : a journal of neurology

الإتاحة: https://doi.org/10.1093/brain/awab313Test
https://rde.dspace-express.com/handle/11287/622145Test

المؤلفون: Fasham, J, Arno, G, Lin, S, Xu, M, Carss, KJ, Hull, S, Lane, A, Robson, AG, Wenger, O, Self, JE, Harlalka, GV, Salter, CG, Schema, L, Moss, TJ, Cheetham, ME, Moore, AT, Raymond, FL, Chen, R, Baple, EL, Webster, AR, Crosby, AH, NIHR Bioresource Rare Diseases Consortium

المصدر: American Journal of Medical Genetics Part A , 179 (8) pp. 1665-1671. (2019)

مصطلحات موضوعية: Brachydactyly, CCNA2-CDK2, Intellectual disability, Retinitis pigmentosa, SCAPER

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10076182/1/Arno_ajmg.a.61202.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10076182Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10076182/1/Arno_ajmg.a.61202.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10076182Test/