Associated Papers
A novel pathogenic variant in PSTPIP1 highlights the diversity of PSTPIP1-associated disorders.
Farajzadeh N et al.
Rheumatology (oxford, England), 2025
RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy.
Chen HJ et al.
Brain : a Journal of Neurology, 2019
31605140 (PubMed )
Supplement: awz313_supplementary_materials.zip › awz313-suppl_data › Supplementary_materials.pdf
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