Associated Papers
A Novel Rare PSEN2 Val226Ala in PSEN2 in a Korean Patient with Atypical Alzheimer's Disease, and the Importance of PSEN2 5th Transmembrane Domain (TM5) in AD Pathogenesis.
Yang Y et al.
International Journal of Molecular Sciences, 2024
39273625 (PubMed )
Supplement: ijms-25-09678-s001.zip › ijms-3093212-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
TREM2 Gene Compound Heterozygosity in Neurodegenerative Disorders.
Berdyński M et al.
Journal of Alzheimer's Disease : Jad, 2022
36031890 (PubMed )
Supplement: sj-xlsx-2-alz-10.3233_jad-220210.xlsx › Robocza
Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation.
Saveri P et al.
Cells, 2020
32326241 (PubMed )
Supplement: cells-09-01028-s001.zip › Table_S3.xlsx › 2449_S14_L001_annot_extract.tab
ALS and CHARGE syndrome: a clinical and genetic study.
Ungaro C et al.
Acta Neurologica Belgica, 2018
30317490 (PubMed )
Supplement: 13760_2018_1029_MOESM3_ESM.pdf
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.
Soukupova J et al.
Plos One, 2018
29649263 (PubMed )
Supplement: pone.0195761.s003.xlsx › S3
Somatic Variations in Cervical Cancers in Indian Patients.
Das P et al.
Plos One, 2016
27829003 (PubMed )
Supplement: pone.0165878.s001.xlsx › somatic_cosmic_hit.list
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
Kenna KP et al.
Journal of Medical Genetics, 2013
23881933 (PubMed )
Supplement: jmedgenet-2013-101795-s1.pdf
Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia.
Bohlega SA et al.
Bmc Medical Genetics, 2011
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