Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Regina Kubica"'
Autor:
Rahel T. Florian, Florian Kraft, Elsa Leitão, Sabine Kaya, Stephan Klebe, Eloi Magnin, Anne-Fleur van Rootselaar, Julien Buratti, Theresa Kühnel, Christopher Schröder, Sebastian Giesselmann, Nikolai Tschernoster, Janine Altmueller, Anaide Lamiral, Boris Keren, Caroline Nava, Delphine Bouteiller, Sylvie Forlani, Ludmila Jornea, Regina Kubica, Tao Ye, Damien Plassard, Bernard Jost, Vincent Meyer, Jean-François Deleuze, Yannick Delpu, Mario D. M. Avarello, Lisanne S. Vijfhuizen, Gabrielle Rudolf, Edouard Hirsch, Thessa Kroes, Philipp S. Reif, Felix Rosenow, Christos Ganos, Marie Vidailhet, Lionel Thivard, Alexandre Mathieu, Thomas Bourgeron, Ingo Kurth, Haloom Rafehi, Laura Steenpass, Bernhard Horsthemke, FAME consortium, Eric LeGuern, Karl Martin Klein, Pierre Labauge, Mark F. Bennett, Melanie Bahlo, Jozef Gecz, Mark A. Corbett, Marina A. J. Tijssen, Arn M. J. M. van den Maagdenberg, Christel Depienne
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
Familial cortical myoclonic tremor with epilepsy (FAME) is a slowly progressing cortical tremor mapping to various genomic loci, including intronic expansions in SAMD12 for FAME1. Here, Florian et al. describe mixed intronic TTTTA/TTTCA expansions of
Externí odkaz:
https://doaj.org/article/2f5cdb4c14f6434cb404877f2fe7a12e
Autor:
Florian R. T., Kraft F., Leitao E., Kaya S., Klebe S., Magnin E., van Rootselaar A. -F., Buratti J., Kuhnel T., Schroder C., Giesselmann S., Tschernoster N., Altmueller J., Lamiral A., Keren B., Nava C., Bouteiller D., Forlani S., Jornea L., Kubica R., Ye T., Plassard D., Jost B., Meyer V., Deleuze J. -F., Delpu Y., Avarello M. D. M., Vijfhuizen L. S., Rudolf G., Hirsch E., Kroes T., Reif P. S., Rosenow F., Ganos C., Vidailhet M., Thivard L., Mathieu A., Bourgeron T., Kurth I., Rafehi H., Steenpass L., Horsthemke B., Berkovic S. F., Bisulli F., Brancati F., Canafoglia L., Casari G., Guerrini R., Ishiura H., Licchetta L., Mei D., Pippucci T., Sadleir L., Scheffer I. E., Striano P., Tinuper P., Tsuji S., Zara F., LeGuern E., Klein K. M., Labauge P., Bennett M. F., Bahlo M., Gecz J., Corbett M. A., Tijssen M. A. J., van den Maagdenberg A. M. J. M., Depienne C.
Publikováno v:
Nature Communications
Nature Communications, 2019, 10 (1), pp.4919. ⟨10.1038/s41467-019-12763-9⟩
Nature Communications, Nature Publishing Group, 2019, 10 (1), pp.4919. ⟨10.1038/s41467-019-12763-9⟩
Nature Communications 10, 4919 (2019). doi:10.1038/s41467-019-12763-9
Nature Communications, 2019, 10 (1), pp.4919. ⟨10.1038/s41467-019-12763-9⟩
Nature Communications, Nature Publishing Group, 2019, 10 (1), pp.4919. ⟨10.1038/s41467-019-12763-9⟩
Nature Communications 10, 4919 (2019). doi:10.1038/s41467-019-12763-9
Familial Adult Myoclonic Epilepsy (FAME) is a genetically heterogeneous disorder characterized by cortical tremor and seizures. Intronic TTTTA/TTTCA repeat expansions in SAMD12 (FAME1) are the main cause of FAME in Asia. Using genome sequencing and r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ec2c892a3045ae0244d68ba44823587a
http://edoc.mdc-berlin.de/20584/2/20584suppl.zip
http://edoc.mdc-berlin.de/20584/2/20584suppl.zip
