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Paper Details

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.
Am J Hum Genet
11
2019
ATN1, Atrophin-1, CHEDDA, DRPLA, DRPLA neurodegeneration, HX, HX Repeat Motif, HX motif, HX repeat motif, HX repeat sequences, Non-Progressive Neurocognitive Syndrome, Polyglutamine, RERE, amino-acid, cognitive impairment, congenital anomalies, congenital hypotonia, dentatorubral-pallidoluysian atrophy, developmental delay, digit abnormalities, epilepsy, human, hypotonia, neurocognitive and congenital anomalies, neurodegenerative condition, non-homologous human genes
Author NameAffiliation
Mark J CowleyThe Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Australia St. Vincent's Clinical School, University of New South Wales
Megan T Cho
Tony RoscioliSydney Children's Hospital, Prince of Wales Hospital, University of New South Wales 1
Fowzan S AlkurayaKing Faisal Specialist Hospital and Research Center
Stefan T AroldKing Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC)
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