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First reported adult patient with TARP syndrome: A case report.
Højland AT, Lolas I, Okkels H, Lautrup CK, Diness BR, Petersen MB, Nielsen IK. Højland AT, et al. Am J Med Genet A. 2018 Dec;176(12):2915-2918. doi: 10.1002/ajmg.a.40638. Epub 2018 Nov 21. Am J Med Genet A. 2018. PMID: 30462380 Free PMC article.
Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.
Chelban V, Wiethoff S, Fabian-Jessing BK, Haridy NA, Khan A, Efthymiou S, Becker EBE, O'Connor E, Hersheson J, Newland K, Hojland AT, Gregersen PA, Lindquist SG, Petersen MB, Nielsen JE, Nielsen M, Wood NW, Giunti P, Houlden H. Chelban V, et al. Among authors: hojland at. Mov Disord. 2018 Jul;33(7):1119-1129. doi: 10.1002/mds.27334. Epub 2018 Mar 30. Mov Disord. 2018. PMID: 29603387 Free PMC article.
13 results