Associated Papers
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Saffari A et al.
Brain : a Journal of Neurology, 2023
Mutant Allele-Specific CRISPR Disruption in DYT1 Dystonia Fibroblasts Restores Cell Function.
Cruz L et al.
Molecular Therapy. Nucleic Acids, 2020
Advances in molecular and cell biology of dystonia: Focus on torsinA.
Gonzalez-Alegre P
Neurobiology of Disease, 2019
Excess LINC complexes impair brain morphogenesis in a mouse model of recessive TOR1A disease.
Dominguez Gonzalez B et al.
Human Molecular Genetics, 2018
TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor.
Kariminejad A et al.
Brain : a Journal of Neurology, 2017
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