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
An update on genetic basis of generalized pustular psoriasis (Review).
Zhou J et al.
International Journal of Molecular Medicine, 2021
High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.
Lattante S et al.
Genes, 2020
32987860 (PubMed )
Supplement: genes-11-01123-s001.zip › Supplementary_Table_I.xlsx › Variant_list
Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort.
Scarlino S et al.
International Journal of Molecular Sciences, 2020
32397312 (PubMed )
Supplement: ijms-21-03346-s001.pdf
Identification of mutations in Korean patients with amyotrophic lateral sclerosis using multigene panel testing.
Kim HJ et al.
Neurobiology of Aging, 2016
SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis.
Fecto F et al.
Archives of Neurology, 2011
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