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Page 1
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: leung j. Am J Hum Genet. 2000 Nov;67(5):1314-9. Epub 2000 Oct 5. Am J Hum Genet. 2000. PMID: 11022010 Free PMC article.
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: leung j. Ann Neurol. 2000 Mar;47(3):369-73. Ann Neurol. 2000. PMID: 10716258
Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations.
Klein C, Liu L, Doheny D, Kock N, Müller B, de Carvalho Aguiar P, Leung J, de Leon D, Bressman SB, Silverman J, Smith C, Danisi F, Morrison C, Walker RH, Velickovic M, Schwinger E, Kramer PL, Breakefield XO, Brin MF, Ozelius LJ. Klein C, et al. Among authors: leung j. Ann Neurol. 2002 Nov;52(5):675-9. doi: 10.1002/ana.10358. Ann Neurol. 2002. PMID: 12402271
Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism.
Leung JC, Klein C, Friedman J, Vieregge P, Jacobs H, Doheny D, Kamm C, DeLeon D, Pramstaller PP, Penney JB, Eisengart M, Jankovic J, Gasser T, Bressman SB, Corey DP, Kramer P, Brin MF, Ozelius LJ, Breakefield XO. Leung JC, et al. Neurogenetics. 2001 Jul;3(3):133-43. doi: 10.1007/s100480100111. Neurogenetics. 2001. PMID: 11523564
Clinical findings of a myoclonus-dystonia family with two distinct mutations.
Doheny D, Danisi F, Smith C, Morrison C, Velickovic M, De Leon D, Bressman SB, Leung J, Ozelius L, Klein C, Breakefield XO, Brin MF, Silverman JM. Doheny D, et al. Among authors: leung j. Neurology. 2002 Oct 22;59(8):1244-6. doi: 10.1212/wnl.59.8.1244. Neurology. 2002. PMID: 12391355
Mutations in DYT1: extension of the phenotypic and mutational spectrum.
Kabakci K, Hedrich K, Leung JC, Mitterer M, Vieregge P, Lencer R, Hagenah J, Garrels J, Witt K, Klostermann F, Svetel M, Friedman J, Kostic V, Bressman SB, Breakefield XO, Ozelius LJ, Pramstaller PP, Klein C. Kabakci K, et al. Among authors: leung jc. Neurology. 2004 Feb 10;62(3):395-400. doi: 10.1212/01.wnl.0000113024.84178.f7. Neurology. 2004. PMID: 14872019
The TOR1A (DYT1) gene family and its role in early onset torsion dystonia.
Ozelius 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. Ozelius LJ, et al. Among authors: leung j. Genomics. 1999 Dec 15;62(3):377-84. doi: 10.1006/geno.1999.6039. Genomics. 1999. PMID: 10644435
2,732 results