References
- 1Defazio G, Hallett M, Jinnah HA, Berardelli A. Development and validation of a clinical guideline for diagnosing blepharospasm. Neurology. 2013; 81(3): 236–40. Epub 2013/06/19. PubMed PMID: 23771487; PMCID: 3770163. DOI: 10.1212/WNL.0b013e31829bfdf6
- 2Scorr LM, Cho HJ, Kilic-Berkmen G, McKay JL, Hallett M, Klein C, Baumer T, Berman BD, Feuerstein JS, Perlmutter JS, Berardelli A, Ferrazzano G, Wagle-Shukla A, Malaty IA, Jankovic J, Bellows ST, Barbano RL, Vidailhet M, Roze E, Bonnet C, Mahajan A, LeDoux MS, Fung VSC, Chang FCF, Defazio G, Ercoli T, Factor S, Wojno T, Jinnah HA. Clinical Features and Evolution of Blepharospasm: A Multicenter International Cohort and Systematic Literature Review. Dystonia. 2022; 1. DOI: 10.3389/dyst.2022.10359
- 3LeDoux MS. Meige syndrome: what’s in a name? Parkinsonism & related disorders. 2009; 15(7): 483–9. Epub 2009/05/22. PubMed PMID: 19457699; PMCID: PMC2743078. DOI: 10.1016/j.parkreldis.2009.04.006
- 4Waln O, Ledoux MS. Blepharospasm plus Cervical Dystonia with Predominant Anterocollis: A Distinctive Subphenotype of Segmental Craniocervical Dystonia? Tremor Other Hyperkinet Mov (N Y). 2011; 2011(1). Epub 2012/01/10. PubMed PMID: 22229127; PMCID: PMC3253013. DOI: 10.5334/tohm.77
- 5Defazio G, Martino D, Aniello MS, Masi G, Abbruzzese G, Lamberti S, Valente EM, Brancati F, Livrea P, Berardelli A. A family study on primary blepharospasm. Journal of neurology, neurosurgery, and psychiatry. 2006; 77(2): 252–4. Epub 2006/01/20. PubMed PMID: 16421132; PMCID: 2077605. DOI: 10.1136/jnnp.2005.068007
- 6Defazio G, Martino D, Aniello MS, Masi G, Gigante A, Bhatia K, Livrea P, Berardelli A. Planning genetic studies on primary adult-onset dystonia: sample size estimates based on examination of first-degree relatives. J Neurol Sci. 2006; 251(1–2): 29–34. Epub 2006/11/03. PubMed PMID: 17078970. DOI: 10.1016/j.jns.2006.08.009
- 7LeDoux MS, Xiao J, Rudzinska M, Bastian RW, Wszolek ZK, Van Gerpen JA, Puschmann A, Momcilovic D, Vemula SR, Zhao Y. Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases. Parkinsonism & related disorders. 2012; 18(5): 414–25. Epub 2012/03/02. PubMed PMID: 22377579; PMCID: PMC3358360. DOI: 10.1016/j.parkreldis.2012.02.001
- 8Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello RC, Wszolek ZK, Uitti RJ, Van Gerpen JA, Simon DK, Tarsy D, Hedera P, Truong DD, Frei KP, Blitzer A, Rudzinska M, Pfeiffer RF, Le C, LeDoux MS. The c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia. Movement disorders : official journal of the Movement Disorder Society. 2011; 26(3): 549–52. Epub 2011/03/04. PubMed PMID: 21370264; PMCID: PMC3171986. DOI: 10.1002/mds.23551
- 9Hewett J, Gonzalez-Agosti C, Slater D, Ziefer P, Li S, Bergeron D, Jacoby DJ, Ozelius LJ, Ramesh V, Breakefield XO. Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells. Human molecular genetics. 2000; 9(9): 1403–13. Epub 2000/05/18. PubMed PMID: 10814722. DOI: 10.1093/hmg/9.9.1403
- 10Ozelius LJ, Page CE, Klein C, Hewett JW, Mineta M, Leung J, Shalish C, Bressman SB, de Leon D, Brin MF, Fahn S, Corey DP, Breakefield XO. The TOR1A (DYT1) gene family and its role in early onset torsion dystonia. Genomics. 1999; 62(3): 377–84. PubMed PMID: 10644435. DOI: 10.1006/geno.1999.6039
- 11Tian J, Vemula SR, Xiao J, Valente EM, Defazio G, Petrucci S, Gigante AF, Rudzinska-Bar M, Wszolek ZK, Kennelly KD, Uitti RJ, van Gerpen JA, Hedera P, Trimble EJ, LeDoux MS. Whole-exome sequencing for variant discovery in blepharospasm. Molecular genetics & genomic medicine. 2018; 6(4): 601–26. Epub 2018/05/18. PubMed PMID: 29770609; PMCID: PMC6081235. DOI: 10.1002/mgg3.411
- 12Teng X, Qu Q, Shu Y, Gong J, Xu B, Qu J. Genetic screening in patients of Meige syndrome and blepharospasm. Neurol Sci. 2022; 43(6): 3683–94. Epub 2022/01/20. PubMed PMID: 35044558. DOI: 10.1007/s10072-022-05900-8
- 13Hammer M, Abravanel A, Peckham E, Mahloogi A, Majounie E, Hallett M, Singleton A. Blepharospasm: A genetic screening study in 132 patients. Parkinsonism & related disorders. 2019. Epub 2019/04/09. PubMed PMID: 30956059. DOI: 10.1016/j.parkreldis.2019.04.003
- 14Landrum MJ, Chitipiralla S, Brown GR, Chen C, Gu B, Hart J, Hoffman D, Jang W, Kaur K, Liu C, Lyoshin V, Maddipatla Z, Maiti R, Mitchell J, O’Leary N, Riley GR, Shi W, Zhou G, Schneider V, Maglott D, Holmes JB, Kattman BL. ClinVar: improvements to accessing data. Nucleic acids research. 2020; 48(D1): D835–D44. Epub 2019/11/30. PubMed PMID: 31777943; PMCID: PMC6943040. DOI: 10.1093/nar/gkz972
- 15Gudmundsson S, Singer-Berk M, Watts NA, Phu W, Goodrich JK, Solomonson M, Genome Aggregation Database C, Rehm HL, MacArthur DG, O’Donnell-Luria A. Variant interpretation using population databases: Lessons from gnomAD. Hum Mutat. 2022; 43(8): 1012–30. Epub 2021/12/04. PubMed PMID: 34859531; PMCID: PMC9160216. DOI: 10.1002/humu.24309
- 16Kircher M, Witten DM, Jain P, O’Roak BJ, Cooper GM, Shendure J. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet. 2014; 46(3): 310–5. Epub 2014/02/04. PubMed PMID: 24487276; PMCID: PMC3992975. DOI: 10.1038/ng.2892
- 17Rentzsch P, Witten D, Cooper GM, Shendure J, Kircher M. CADD: predicting the deleteriousness of variants throughout the human genome. Nucleic acids research. 2019; 47(D1): D886–D94. Epub 2018/10/30. PubMed PMID: 30371827; PMCID: PMC6323892. DOI: 10.1093/nar/gky1016
- 18Dong C, Wei P, Jian X, Gibbs R, Boerwinkle E, Wang K, Liu X. Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies. Human molecular genetics. 2015; 24(8): 2125–37. PubMed PMID: 25552646; PMCID: PMC4375422. DOI: 10.1093/hmg/ddu733
- 19Ioannidis NM, Rothstein JH, Pejaver V, Middha S, McDonnell SK, Baheti S, Musolf A, Li Q, Holzinger E, Karyadi D, Cannon-Albright LA, Teerlink CC, Stanford JL, Isaacs WB, Xu J, Cooney KA, Lange EM, Schleutker J, Carpten JD, Powell IJ, Cussenot O, Cancel-Tassin G, Giles GG, MacInnis RJ, Maier C, Hsieh CL, Wiklund F, Catalona WJ, Foulkes WD, Mandal D, Eeles RA, Kote-Jarai Z, Bustamante CD, Schaid DJ, Hastie T, Ostrander EA, Bailey-Wilson JE, Radivojac P, Thibodeau SN, Whittemore AS, Sieh W. REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants. American journal of human genetics. 2016; 99(4): 877–85. PubMed PMID: 27666373. DOI: 10.1016/j.ajhg.2016.08.016
- 20Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in medicine : official journal of the American College of Medical Genetics. 2015; 17(5): 405–24. Epub 2015/03/06. PubMed PMID: 25741868. DOI: 10.1038/gim.2015.30
- 21Laudermilch E, Tsai PL, Graham M, Turner E, Zhao C, Schlieker C. Dissecting Torsin/cofactor function at the nuclear envelope: a genetic study. Mol Biol Cell. 2016; 27(25): 3964–71. Epub 2016/11/01. PubMed PMID: 27798237; PMCID: PMC5156537. DOI: 10.1091/mbc.E16-07-0511
- 22Pounraja VK, Girirajan S. A general framework for identifying oligogenic combinations of rare variants in complex disorders. Genome Res. 2022; 32(5): 904–15. Epub 2022/03/19. PubMed PMID: 35301265; PMCID: PMC9104696. DOI: 10.1101/gr.276348.121
