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Molecular and Cellular Neurosciences|November 24, 2004
Inhibition of N-linked glycosylation prevents inclusion formation by the dystonia-related mutant form of torsinAD Cristopher Bragg, Caroline A Kaufman, Norman Kock, et al.Disease Models & Mechanisms|January 16, 2016
Decreased N-TAF1 expression in X-linked dystonia-parkinsonism patient-specific neural stem cellsNaoto Ito, William T Hendriks, Jyotsna Dhakal, et al.American Journal of Human Genetics|October 21, 2021
Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelinAloysius Domingo, Rachita Yadav, Shivangi Shah, et al.Neurobiology of Disease|December 20, 2005
Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamicsJeffrey W Hewett, Juan Zeng, Brian P Niland, et al.Otolaryngology--Head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery|June 4, 2011
Consideration of genetic contributions to the risk for spasmodic dysphoniaNutan Sharma, Ramon A FrancoNeurologic Clinics|November 2, 2013
Clinical neurogenetics: dystonia from phenotype to genotypeJeffrey L Waugh, Nutan SharmaThe Lancet. Neurology|June 14, 2024
Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosisElisa Vegezzi, Hiroyuki Ishiura, D Cristopher Bragg, et al.Molecular Therapy. Nucleic Acids|June 6, 2020
Mutant Allele-Specific CRISPR Disruption in DYT1 Dystonia Fibroblasts Restores Cell FunctionLilian Cruz, Bence György, Pike See Cheah, et al.Molecular Therapy. Nucleic Acids|March 21, 2025
Non-invasive detection of allele-specific CRISPR-SaCas9-KKH disruption of TOR1A DYT1 allele in a xenograft mouse modelKatia E Maalouf, Dawn Madison Frederick, Nutan Sharma, et al.Pageof 13