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A major locus for myoclonus-dystonia maps to chromosome 7q in eight families.
Klein C, Schilling K, Saunders-Pullman RJ, Garrels J, Breakefield XO, Brin MF, deLeon D, Doheny D, Fahn S, Fink JS, Forsgren L, Friedman J, Frucht S, Harris J, Holmgren G, Kis B, Kurlan R, Kyllerman M, Lang AE, Leung J, Raymond D, Robishaw JD, Sanner G, Schwinger E, Tabamo RE, Tagliati M. Klein C, et al. Among authors: schilling k. Am J Hum Genet. 2000 Nov;67(5):1314-9. Epub 2000 Oct 5. Am J Hum Genet. 2000. PMID: 11022010 Free PMC article.
Phenotypic features of myoclonus-dystonia in three kindreds.
Doheny DO, Brin MF, Morrison CE, Smith CJ, Walker RH, Abbasi S, Müller B, Garrels J, Liu L, De Carvalho Aguiar P, Schilling K, Kramer P, De Leon D, Raymond D, Saunders-Pullman R, Klein C, Bressman SB, Schmand B, Tijssen MA, Ozelius LJ, Silverman JM. Doheny DO, et al. Among authors: schilling k. Neurology. 2002 Oct 22;59(8):1187-96. doi: 10.1212/wnl.59.8.1187. Neurology. 2002. PMID: 12391346
Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13.
Kramer PL, Mineta M, Klein C, Schilling K, de Leon D, Farlow MR, Breakefield XO, Bressman SB, Dobyns WB, Ozelius LJ, Brashear A. Kramer PL, et al. Among authors: schilling k. Ann Neurol. 1999 Aug;46(2):176-82. doi: 10.1002/1531-8249(199908)46:2<176::aid-ana6>3.0.co;2-2. Ann Neurol. 1999. PMID: 10443882
Hereditary myoclonus-dystonia associated with epilepsy.
Foncke EM, Klein C, Koelman JH, Kramer PL, Schilling K, Müller B, Garrels J, de Carvalho Aguiar P, Liu L, de Froe A, Speelman JD, Ozelius LJ, Tijssen MA. Foncke EM, et al. Among authors: schilling k. Neurology. 2003 Jun 24;60(12):1988-90. doi: 10.1212/01.wnl.0000066020.99191.76. Neurology. 2003. PMID: 12821748
GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36.
Wirtz MK, Samples JR, Rust K, Lie J, Nordling L, Schilling K, Acott TS, Kramer PL. Wirtz MK, et al. Among authors: schilling k. Arch Ophthalmol. 1999 Feb;117(2):237-41. doi: 10.1001/archopht.117.2.237. Arch Ophthalmol. 1999. PMID: 10037570
537 results