Associated Papers
Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.
Fava VM et al.
Scientific Reports, 2025
41430073 (PubMed )
Supplement: 41598_2025_30734_MOESM2_ESM.xlsx › Variants
Genetic testing of common and rare variants in dementia patients from a memory clinic : Dementia-related genetic testing in memory clinic.
de Rojas I et al.
Alzheimer's Research & Therapy, 2025
41088469 (PubMed )
Supplement: 13195_2025_1854_MOESM2_ESM.xlsx › SuppTable2
Patient with PSEN1 Glu318Gly and Other Possible Disease Risk Mutations, Diagnosed with Early Onset Alzheimer's Disease.
Yang Y et al.
International Journal of Molecular Sciences, 2023
37895139 (PubMed )
Supplement: ijms-24-15461-s001.zip › ijms-2642793-supplementary.pdf
PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer's Disease.
Yang Y et al.
International Journal of Molecular Sciences, 2022
36362122 (PubMed )
Supplement: ijms-23-13331-s001.zip › ijms-1932674-supplementary.pdf
Genomic characterization of lymphomas in patients with inborn errors of immunity.
Ye X et al.
Blood Advances, 2022
35687490 (PubMed )
Supplement: advancesADV2021006654-suppl4.xlsx › PL23
Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.
Bartoletti-Stella A et al.
Frontiers in Aging Neuroscience, 2022
36133075 (PubMed )
Supplement: Table_1.XLSX › AD_006_N
A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family.
Bagyinszky E et al.
Brain Sciences, 2021
34679393 (PubMed )
Supplement: brainsci-11-01328-s001.zip › brainsci-1394263-supplementary.pdf
Genetic Variation in RIN3 in the Belgian Population Supports Its Involvement in the Pathogenesis of Paget's Disease of Bone and Modifies the Age of Onset.
De Ridder R et al.
Calcified Tissue International, 2019
Early-onset Alzheimer's disease patient with prion (PRNP) p.Val180Ile mutation.
Bagyinszky E et al.
Neuropsychiatric Disease and Treatment, 2019
Clinical and Genetic Advances in Paget's Disease of Bone: a Review.
Alonso N et al.
Clinical Reviews in Bone and Mineral Metabolism, 2017
Kinome-wide decoding of network-attacking mutations rewiring cancer signaling.
Creixell P et al.
Cell, 2015
26388441 (PubMed )
Supplement: mmc10.zip › DataFileS2_ReKINectOutputES2.xlsx › ES2.standardfilteringd10_Mut_Re
Targeted sequencing of the Paget's disease associated 14q32 locus identifies several missense coding variants in RIN3 that predispose to Paget's disease of bone.
Vallet M et al.
Human Molecular Genetics, 2015
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