Associated Papers
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Saffari A et al.
Brain : a Journal of Neurology, 2023
Mutational spectrum of GNAL, THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review.
Gómez-Garre P et al.
European Journal of Neurology, 2021
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
Biallelic TOR1A variants in an infant with severe arthrogryposis.
Reichert SC et al.
Neurology. Genetics, 2017
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