Associated Papers
Spinocerebellar ataxia type 11 (SCA11): TTBK2 variants, functions and associated disease mechanisms.
Felício D et al.
Cerebellum (london, England), 2024
Spinocerebellar ataxia type 11 (SCA11): An update.
Gong Z et al.
The European Journal of Neuroscience, 2023
Pan-cancer assessment of mutational landscape in intrinsically disordered hotspots reveals potential driver genes.
Zou H et al.
Nucleic Acids Research, 2022
35061901 (PubMed )
Supplement: gkac028_supplemental_files.zip › Table_S2_new.xlsx › Sheet1
Dysregulated immunity in PID patients with low GARP expression on Tregs due to mutations in LRRC32.
Lehmkuhl P et al.
Cellular & Molecular Immunology, 2021
34059789 (PubMed )
Supplement: 41423_2021_701_MOESM2_ESM.xlsx › 270
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 670.267
Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis.
Benitez BA et al.
Plos One, 2011
Missense exchanges in the TTBK2 gene mutated in SCA11.
Edener U et al.
Journal of Neurology, 2009
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