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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. 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: bressman sb. Ann Neurol. 2002 Nov;52(5):675-9. doi: 10.1002/ana.10358. Ann Neurol. 2002. PMID: 12402271
The metabolic pathology of dopa-responsive dystonia.
Asanuma K, Ma Y, Huang C, Carbon-Correll M, Edwards C, Raymond D, Bressman SB, Moeller JR, Eidelberg D. Asanuma K, et al. Among authors: bressman sb. Ann Neurol. 2005 Apr;57(4):596-600. doi: 10.1002/ana.20442. Ann Neurol. 2005. PMID: 15786454
The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.
Brashear A, Dobyns WB, de Carvalho Aguiar P, Borg M, Frijns CJ, Gollamudi S, Green A, Guimaraes J, Haake BC, Klein C, Linazasoro G, Münchau A, Raymond D, Riley D, Saunders-Pullman R, Tijssen MA, Webb D, Zaremba J, Bressman SB, Ozelius LJ. Brashear A, et al. Among authors: bressman sb. Brain. 2007 Mar;130(Pt 3):828-35. doi: 10.1093/brain/awl340. Epub 2007 Feb 4. Brain. 2007. PMID: 17282997
264 results