Associated Papers
IFNAR2 p.F8S Variant Associates with Severe COVID-19 and Adaptive Immune Cell Activation Modulation.
Malvestiti F et al.
International Journal of Molecular Sciences, 2026
41596638 (PubMed )
Supplement: ijms-27-00992-s001.zip › Malvestiti_et_al.__Supplementary_Table__y.xlsx › Table_S1
Functional Testing of Bone Morphogenetic Protein (BMP) Pathway Variants Identified on Whole-Exome Sequencing in a Patient with Delayed-Onset Fibrodysplasia Ossificans Progressiva (FOP) Using ACVR1R206H -Specific Human Cellular and Zebrafish Models.
Wentworth KL et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022
36153796 (PubMed )
Supplement: JBMR-37-2058-s002.pdf
Mechanism of APTX nicked DNA sensing and pleiotropic inactivation in neurodegenerative disease.
Tumbale P et al.
The Embo Journal, 2018
Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1.
van Minkelen R et al.
Bmc Medical Genetics, 2015
26285866 (PubMed )
Supplement: 12881_2015_213_MOESM2_ESM.pdf
Molecular underpinnings of Aprataxin RNA/DNA deadenylase function and dysfunction in neurological disease.
Schellenberg MJ et al.
Progress in Biophysics and Molecular Biology, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1841.646
Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.
Castellotti B et al.
Neurogenetics, 2011
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