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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: lang ae. Am J Hum Genet. 2000 Nov;67(5):1314-9. Epub 2000 Oct 5. Am J Hum Genet. 2000. PMID: 11022010 Free PMC article.
Psychogenic parkinsonism.
Lang AE, Koller WC, Fahn S. Lang AE, et al. Arch Neurol. 1995 Aug;52(8):802-10. doi: 10.1001/archneur.1995.00540320078015. Arch Neurol. 1995. PMID: 7639632
Evaluation of the role of the D2 dopamine receptor in myoclonus dystonia.
Klein C, Gurvich N, Sena-Esteves M, Bressman S, Brin MF, Ebersole BJ, Fink S, Forsgren L, Friedman J, Grimes D, Holmgren G, Kyllerman M, Lang AE, de Leon D, Leung J, Prioleau C, Raymond D, Sanner G, Saunders-Pullman R, Vieregge P, Wahlström J, Breakefield XO, Kramer PL, Ozelius LJ, Sealfon SC. Klein C, et al. Among authors: lang ae. Ann Neurol. 2000 Mar;47(3):369-73. Ann Neurol. 2000. PMID: 10716258
A novel locus for inherited myoclonus-dystonia on 18p11.
Grimes DA, Han F, Lang AE, St George-Hyssop P, Racacho L, Bulman DE. Grimes DA, et al. Among authors: lang ae. Neurology. 2002 Oct 22;59(8):1183-6. doi: 10.1212/wnl.59.8.1183. Neurology. 2002. PMID: 12391345
DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease.
Hedrich K, Djarmati A, Schäfer N, Hering R, Wellenbrock C, Weiss PH, Hilker R, Vieregge P, Ozelius LJ, Heutink P, Bonifati V, Schwinger E, Lang AE, Noth J, Bressman SB, Pramstaller PP, Riess O, Klein C. Hedrich K, et al. Among authors: lang ae. Neurology. 2004 Feb 10;62(3):389-94. doi: 10.1212/01.wnl.0000113022.51739.88. Neurology. 2004. PMID: 14872018
Distribution, type, and origin of Parkin mutations: review and case studies.
Hedrich K, Eskelson C, Wilmot B, Marder K, Harris J, Garrels J, Meija-Santana H, Vieregge P, Jacobs H, Bressman SB, Lang AE, Kann M, Abbruzzese G, Martinelli P, Schwinger E, Ozelius LJ, Pramstaller PP, Klein C, Kramer P. Hedrich K, et al. Among authors: lang ae. Mov Disord. 2004 Oct;19(10):1146-57. doi: 10.1002/mds.20234. Mov Disord. 2004. PMID: 15390068 Review.
Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations.
Raymond D, Saunders-Pullman R, de Carvalho Aguiar P, Schule B, Kock N, Friedman J, Harris J, Ford B, Frucht S, Heiman GA, Jennings D, Doheny D, Brin MF, de Leon Brin D, Multhaupt-Buell T, Lang AE, Kurlan R, Klein C, Ozelius L, Bressman S. Raymond D, et al. Among authors: lang ae. Mov Disord. 2008 Mar 15;23(4):588-92. doi: 10.1002/mds.21785. Mov Disord. 2008. PMID: 18175340
1,131 results