Zobrazeno 1 - 10
of 514
pro vyhledávání: '"Plecko, B"'
Publikováno v:
In European Journal of Paediatric Neurology November 2021 35:93-99
Autor:
Weiß, C., Becker, L.-L., Friese, J., Blaschek, A., Hahn, A., Illsinger, S., Schwartz, O., Bernert, G., von der Hagen, M., Husain, R. A., Goldhahn, K., Pechmann, A., Kirschner, J., Flotats-Bastardas, M., Schreiber, G., Schara, U., Plecko, B., Trollmann, R., Horber, V., Wilichowski, E.
Publikováno v:
Neuropediatrics; 2023 Supplement 1, Vol. 54, pS1-S32, 32p
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Steel, D., Zech, M., Zhao, C., Barwick, K.E.S., Burke, D., Demailly, D., Kumar, K.R., Zorzi, G., Nardocci, N., Kaiyrzhanov, R., Wagner, M., Iuso, A., Berutti, R., Škorvánek, M., Necpál, J., Davis, R., Wiethoff, S., Mankad, K., Sudhakar, S., Ferrini, A., Sharma, S., Kamsteeg, E.J., Tijssen, Marina A. J., Verschuuren, C., Egmond, M.E. van, Flowers, J.M., McEntagart, M., Tucci, A., Coubes, P., Bustos, B.I., Gonzalez-Latapi, P., Tisch, S., Darveniza, P., Gorman, K.M., Peall, K.J., Bötzel, K., Koch, J.C., Kmieć, T., Plecko, B., Boesch, S., Haslinger, B., Jech, R., Garavaglia, B., Wood, N., Houlden, H., Gissen, P., Lubbe, S.J., Sue, C.M., Cif, L., Mencacci, N.E., Anderson, G., Kurian, M.A., Winkelmann, J.
Publikováno v:
Annals of Neurology, 88, 867-877
Annals of Neurology, 88, 5, pp. 867-877
Annals of Neurology, 88, 5, pp. 867-877
Contains fulltext : 229267.pdf (Publisher’s version ) (Open Access) OBJECTIVES: The majority of people with suspected genetic dystonia remain undiagnosed after maximal investigation, implying that a number of causative genes have not yet been recog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::1e521d000fa972c1be00221ef6d1e696
https://hdl.handle.net/2066/229267
https://hdl.handle.net/2066/229267
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Context: 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::13d65a3f387ee745191f9a1bb18670fb
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3076336
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3076336
Autor:
Gefferie, S. R., Maric, A., Critelli, H., Gueden, S., Kurlemann, G., Kurth, S., Nosadini, M., Plecko, B., Ringli, M., Rostasy, K., Sartori, S., Schmitt, B., Suppiej, A., Van Bogaert, P., Wehrle, F. M., Huber, R., Bolsterli, B. K.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3709::9bcb283fd6923185de04b011bd164a94
http://hdl.handle.net/11392/2475270
http://hdl.handle.net/11392/2475270
Autor:
Steel, D, Zech, M, Zhao, C, Barwick, KES, Burke, D, Demailly, D, Kumar, KR, Zorzi, G, Nardocci, N, Kaiyrzhanov, R, Wagner, M, Iuso, A, Berutti, R, Škorvánek, M, Necpál, J, Davis, R, Wiethoff, S, Mankad, K, Sudhakar, S, Ferrini, A, Sharma, S, Kamsteeg, E-J, Tijssen, MA, Verschuuren, C, van Egmond, ME, Flowers, JM, McEntagart, M, Tucci, A, Coubes, P, Bustos, BI, Gonzalez-Latapi, P, Tisch, S, Darveniza, P, Gorman, KM, Peall, KJ, Bötzel, K, Koch, JC, Kmieć, T, Plecko, B, Boesch, S, Haslinger, B, Jech, R, Garavaglia, B, Wood, N, Houlden, H, Gissen, P, Lubbe, SJ, Sue, CM, Cif, L, Mencacci, NE, Anderson, G, Kurian, MA, Winkelmann, J, Genomics England Research Consortium
OBJECTIVES: The majority of people with suspected genetic dystonia remain undiagnosed after maximal investigation, implying that a number of causative genes have not yet been recognized. We aimed to investigate this paucity of diagnoses. METHODS: We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::e01c3c009fa656fa2127e5a51b7048f4
https://openaccess.sgul.ac.uk/id/eprint/112563/1/ana.25879.pdf
https://openaccess.sgul.ac.uk/id/eprint/112563/1/ana.25879.pdf
Autor:
Zweier, M., Begemann, A., Mcwalter, K., Cho, M. T., Abela, L., Banka, S., Behring, B., Berger, A., Brown, C. W., Carneiro, M., Chen, J., Cooper, G. M., Finnila, C. R., Sacoto, M. J. Guillen, Henderson, A., Hueffmeier, U., Joset, P., Kerr, B., Lesca, G., Leszinski, G. S., Mcdermott, J. H., Meltzer, M. R., Monaghan, K. G., Mostafavi, R., Ounap, K., Plecko, B., Powis, Z., Purcarin, G., Reimand, T., Riedhammer, K. M., Schreiber, J. M., Sirsi, D., Wierenga, K. J., Wojcik, M. H., Papuc, S. M., Steindl, K., Sticht, H., Anita Rauch
Publikováno v:
Deciphering Developmental Disorders (DDD) Study 2019, ' Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures ', European journal of human genetics : EJHG . https://doi.org/10.1038/s41431-018-0331-z
Web of Science
Eur J Hum Genet
Web of Science
Eur J Hum Genet
CYFIP2, encoding the evolutionary highly conserved cytoplasmic FMRP interacting protein 2, has previously been proposed as a candidate gene for intellectual disability and autism because of its important role linking FMRP-dependent transcription regu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d0326f688aa9da100d1da43c2778301
https://www.research.manchester.ac.uk/portal/en/publications/spatially-clustering-de-novo-variants-in-cyfip2-encoding-the-cytoplasmic-fmrp-interacting-protein-2-cause-intellectual-disability-and-seizures(25ed1309-95f9-4ade-81dd-3ae801258bcc).html
https://www.research.manchester.ac.uk/portal/en/publications/spatially-clustering-de-novo-variants-in-cyfip2-encoding-the-cytoplasmic-fmrp-interacting-protein-2-cause-intellectual-disability-and-seizures(25ed1309-95f9-4ade-81dd-3ae801258bcc).html
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.