TOR1A

Publications

Saffari A et.al. The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Brain. 2023;146(8):3273-3288. https://doi.org/10.1093/brain/awad039 PMID: 36757831

Ariana Kariminejad A et. al. TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor. Brain. 2017;140(11):2851-2859. PMID: 29053766.

Ginevrino M. The multiple faces of TOR1A: different inheritance, different phenotype. Brain. 2017 Nov 1;140(11):2764-2767. PMID: 29088347.