المؤلفون: Poggio, E., Barazzuol, L., Salmaso, A., Milani, C., Deligiannopoulou, A., Cazorla Á, G., Jang, S. S., Juliá-Palacios, N., Keren, B., Kopajtich, R., Lynch, S. A., Mignot, C., Moorwood, C., Neuhofer, C., Nigro, V., Oostra, A., Prokisch, H., Saillour, V., Schuermans, N., Torella, A., Verloo, P., Yazbeck, E., Zollino, M., Jech, R., Winkelmann, J., Necpal, J., Calì, T., Brini, M., Zech, M.

مصطلحات موضوعية: Atp2b2, Ataxia, Dystonia, Neurodevelopmental disorder, Plasma membrane Ca(2+) ATPase isoform 2

العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S1098-3600Test(23)00987-5; Poggio E, Barazzuol L, Salmaso A, Milani C, Deligiannopoulou A, Cazorla Á G, et al. ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures. Genetics in medicine : official journal of the American College of Medical Genetics. 2023;25(12):100971.; Genetics in medicine; https://hdl.handle.net/11287/623071Test

الإتاحة: https://doi.org/10.1016/j.gim.2023.100971Test
https://hdl.handle.net/11287/623071Test

المؤلفون: Dias, K. R., Carlston, C. M., Blok, L. E. R., De Hayr, L., Nawaz, U., Evans, C. A., Bayrak-Toydemir, P., Htun, S., Zhu, Y., Ma, A., Lynch, S. A., Moorwood, C., Stals, K., Ellard, S., Bainbridge, M. N., Friedman, J., Pappas, J. G., Rabin, R., Nowak, C. B., Douglas, J., Wilson, T. E., Guillen Sacoto, M. J., Mullegama, S. V., Palculict, T. B., Kirk, E. P., Pinner, J. R., Edwards, M., Montanari, F., Graziano, C., Pippucci, T., Dingmann, B., Glass, I., Mefford, H. C., Shimoji, T., Suzuki, T., Yamakawa, K., Streff, H., Schaaf, C. P., Slavotinek, A. M., Voineagu, I., Carey, J. C., Buckley, M. F., Schenck, A., Harvey, R. J., Roscioli, T.

مصطلحات موضوعية: Brain/metabolism, Gene Expression Regulation, Humans, Intellectual Disability/genetics, Neurodevelopmental Disorders/genetics/metabolism, Protein Domains, Whole Exome Sequencing, Developmental delay, Intellectual disability, Protein hub, Zmynd8

العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S1098-3600Test(22)00803-6; Genet Med. 2022 Sep;24(9):1952-1966. doi:10.1016/j.gim.2022.06.001. Epub 2022 Aug 1.; https://rde.dspace-express.com/handle/11287/622662Test; Genetics in medicine

الإتاحة: https://doi.org/10.1016/j.gim.2022.06.001Test
https://rde.dspace-express.com/handle/11287/622662Test

المؤلفون: Clarke, W, Edwards, B, McCullagh, K, Kemp, M, Moorwood, C, Sherman, D, Burgess, M, Davies, K

العلاقة: https://ora.ox.ac.uk/objects/uuid:177df95f-a441-41cf-9d9f-05e4021b82a4Test; https://doi.org/10.1242/jcs.059113Test

الإتاحة: https://doi.org/10.1242/jcs.059113Test
https://ora.ox.ac.uk/objects/uuid:177df95f-a441-41cf-9d9f-05e4021b82a4Test

المؤلفون: Moorwood, C. Philippou, A. Spinazzola, J. Keyser, B. Macarak, E.J. Barton, E.R.

مصطلحات موضوعية: musculoskeletal system

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______2127::c007657885d83bb56a7fa4973f77f5f6Test
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3088407Test

المؤلفون: Moorwood, C., Soni, N., Patel, G., Wilton, S.D., Khurana, T.S.

المصدر: Moorwood, C., Soni, N., Patel, G., Wilton, S.D. and Khurana, T.S. (2013) A cell-based high-throughput screening assay for posttranscriptional utrophin upregulation. Journal of Biomolecular Screening, 18 (4). pp. 400-406.

العلاقة: https://researchrepository.murdoch.edu.au/id/eprint/21496Test/; full_text_status:none

الإتاحة: https://researchrepository.murdoch.edu.au/id/eprint/21496Test/

المؤلفون: Wilber, A.C., Basu, U., Lozynska, O., Moorwood, C., Patel, G., Wilton, S.D., Khurana, T.S.

المصدر: Wilber, A.C., Basu, U., Lozynska, O., Moorwood, C., Patel, G., Wilton, S.D. and Khurana, T.S. (2011) Translational Regulation of Utrophin by miRNAs. PloS one, 6 (12). e29376.

العلاقة: https://researchrepository.murdoch.edu.au/id/eprint/21525Test/; full_text_status:public

الإتاحة: https://researchrepository.murdoch.edu.au/id/eprint/21525Test/

المؤلفون: Moorwood, C.¹ moorwood@mail.med.upenn.edu

المصدر: Cellular & Molecular Life Sciences. Oct2008, Vol. 65 Issue 19, p2957-2963. 7p. 2 Diagrams.

مصطلحات موضوعية: *MUSCLES, *CYTOPLASMIC filaments, *DYSTROPHIN, *CELL membranes, *MEMBRANE proteins