Associated Papers
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.
Sabeh P et al.
American Journal of Human Genetics, 2025
Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions.
Corbett MA et al.
Epilepsia, 2023
Targeted sequencing reveals the mutational landscape responsible for sorafenib therapy in advanced hepatocellular carcinoma.
Tang J et al.
Theranostics, 2020
32373219 (PubMed )
Supplement: thnov10p5384s2.xlsx › S4-AllCellLineMut
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
Guo H et al.
Nature Communications, 2019
31616000 (PubMed )
Supplement: 41467_2019_12435_MOESM4_ESM.xls › Supp._Data_3
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A et al.
Nature Communications, 2019
31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM8_ESM.xlsx › Supplementary_Data_5
Familial Cortical Myoclonic Tremor and Epilepsy, an Enigmatic Disorder: From Phenotypes to Pathophysiology and Genetics. A Systematic Review.
van den Ende T et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2018
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1
Rational search for genes in familial cortical myoclonic tremor with epilepsy, clues from recent advances.
Cen ZD et al.
Seizure, 2016
UBR5 Gene Mutation Is Associated with Familial Adult Myoclonic Epilepsy in a Japanese Family.
Kato T et al.
Isrn Neurology, 2012
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