Associated Papers
Genotype-phenotype correlation of SQSTM1 variants in patients with amyotrophic lateral sclerosis.
Wang S et al.
Journal of Medical Genetics, 2024
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 2024
39044379 (PubMed )
Supplement: ACN3-11-2201-s003.xlsx › ClinGen_VariantClassification
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.
McCann EP et al.
Journal of Neuromuscular Diseases, 2023
37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list
The role of sequestosome 1/p62 protein in amyotrophic lateral sclerosis and frontotemporal dementia pathogenesis.
Foster AD et al.
Neural Regeneration Research, 2020
The driver landscape of sporadic chordoma.
Tarpey PS et al.
Nature Communications, 2017
29026114 (PubMed )
Supplement: 41467_2017_1026_MOESM5_ESM.xlsx › ST2
Clinical and Genetic Advances in Paget's Disease of Bone: a Review.
Alonso N et al.
Clinical Reviews in Bone and Mineral Metabolism, 2017
SQSTM1 mutations--bridging Paget disease of bone and ALS/FTLD.
Rea SL et al.
Experimental Cell Research, 2014
Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB.
Kwok CT et al.
European Journal of Human Genetics : Ejhg, 2014
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