De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome

Elizabeth E. Palmer, Seungbeom Hong, Fatema Al Zahrani, Mais O. Hashem, Fajr A. Aleisa, Heba M.Jalal Ahmed, Tejaswi Kandula, Rebecca Macintosh, Andre E. Minoche, Clare Puttick, Velimir Gayevskiy, Alexander P. Drew, Mark J. Cowley, Marcel Dinger, Jill A. Rosenfeld, Rui Xiao, Megan T. Cho, Suliat F. Yakubu, Lindsay B. Henderson, Maria J. Guillen SacotoAmber Begtrup, Muddathir Hamad, Marwan Shinawi, Marisa V. Andrews, Marilyn C. Jones, Kristin Lindstrom, Ruth E. Bristol, Saima Kayani, Molly Snyder, María Mercedes Villanueva, Angeles Schteinschnaider, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Tony Roscioli, Edwin P. Kirk, Ann Bye, Jasmeen Merzaban, Łukas Jaremko, Mariusz Jaremko, Rani K. Sachdev, Fowzan S. Alkuraya*, Stefan T. Arold

*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

20 Scopus citations

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Biochemistry, Genetics and Molecular Biology