Search Results - "Valachova, Alica"

Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier by Necpál, Ján, Zech, Michael, Valachová, Alica, Sedláček, Zdeněk, Bendová, Šárka, Hančárová, Miroslava, Okáľová, Katarína, Winkelmann, Juliane, Jech, Robert

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Characterisation of Non-Pathogenic Premutation-Range Myotonic Dystrophy Type 2 Alleles by Radvanszky, Jan, Hyblova, Michaela, Radvanska, Eva, Spalek, Peter, Valachova, Alica, Magyarova, Gabriela, Bognar, Csaba, Polak, Emil, Szemes, Tomas, Kadasi, Ludevit

“…Myotonic dystrophy type 2 (DM2) is caused by expansion of a (CCTG)n repeat in the cellular retroviral nucleic acid-binding protein (CNBP) gene. The sequence of…”
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Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment by Fiordaliso, Sarah K., Iwata-Otsubo, Aiko, Ritter, Alyssa L., Quesnel-Vallières, Mathieu, Fujiki, Katsunori, Nishi, Eriko, Hancarova, Miroslava, Miyake, Noriko, Morton, Jenny E.V., Lee, Sangmoon, Hackmann, Karl, Bando, Masashige, Masuda, Koji, Nakato, Ryuichiro, Arakawa, Michiko, Bhoj, Elizabeth, Li, Dong, Hakonarson, Hakon, Takeda, Ryojun, Harr, Margaret, Keena, Beth, Zackai, Elaine H., Okamoto, Nobuhiko, Mizuno, Seiji, Ko, Jung Min, Valachova, Alica, Prchalova, Darina, Vlckova, Marketa, Pippucci, Tommaso, Seiler, Christoph, Choi, Murim, Matsumoto, Naomichi, Di Donato, Nataliya, Barash, Yoseph, Sedlacek, Zdenek, Shirahige, Katsuhiko, Izumi, Kosuke

“…NKAP is a ubiquitously expressed nucleoplasmic protein that is currently known as a transcriptional regulatory molecule via its interaction with HDAC3 and…”
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Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier by Necpál, Ján, Zech, Michael, Valachová, Alica, Sedláček, Zdeněk, Bendová, Šárka, Hančárová, Miroslava, Okáľová, Katarína, Winkelmann, Juliane, Jech, Robert

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