DYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discovery
Author:
Funder
Deutsche Forschungsgemeinschaft
Luxembourgish Research Fund
Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s10048-024-00752-0.pdf
Reference50 articles.
1. Fahn S, Bressman SB, Marsden CD (1998) Classification of dystonia. Adv Neurol 78:1–10
2. Albanese A, Bhatia K, Bressman SB et al (2013) Phenomenology and classification of dystonia: a consensus update. Mov Disord off J Mov Disord Soc 28:863–873. https://doi.org/10.1002/mds.25475
3. Thomsen M, Lange LM, Zech M, Lohmann K (2024) Genetics and Pathogenesis of Dystonia. Annu Rev Pathol Mech Dis 19:null. https://doi.org/10.1146/annurev-pathmechdis-051122-110756
4. Lange LM, Junker J, Loens S et al (2021) Genotype–phenotype relations for isolated dystonia genes: MDSGene systematic review. Mov Disord 36:1086–1103. https://doi.org/10.1002/mds.28485
5. Bressman SB, Raymond D, Fuchs T et al (2009) THAP1 (DYT6) mutations in early-onset primary dystonia. Lancet Neurol 8:441–446. https://doi.org/10.1016/S1474-4422(09)70081-X
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