Associated Papers
Trio Whole Exome Sequencing in Chinese Childhood-Onset Lupus Reveals Novel Candidate Genes.
Ma J et al.
Arthritis & Rheumatology (hoboken, N.j.), 2025
40386946 (PubMed )
Supplement: EMS206315-supplement-Supplementary_Table_5.xlsx › Sheet1
"Ear of the Lynx" Sign in Hereditary Spastic Paraplegia 76.
Lee MJ et al.
Journal of Clinical Neurology (seoul, Korea), 2025
Spastic paraplegia type 76 due to novel CAPN1 mutations: three case reports with literature review.
Zhu Z et al.
Neurogenetics, 2023
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.
Méreaux JL et al.
Neurogenetics, 2021
Exploring the biological role of postzygotic and germinal de novo mutations in ASD.
Alonso-Gonzalez A et al.
Scientific Reports, 2021
33431980 (PubMed )
Supplement: 41598_2020_79412_MOESM1_ESM.xlsx › supplementary_table_14
Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia.
Lai LL et al.
Annals of Clinical and Translational Neurology, 2020
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