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Page 1
EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia.
Kuipers DJS, Mandemakers W, Lu CS, Olgiati S, Breedveld GJ, Fevga C, Tadic V, Carecchio M, Osterman B, Sagi-Dain L, Wu-Chou YH, Chen CC, Chang HC, Wu SL, Yeh TH, Weng YH, Elia AE, Panteghini C, Marotta N, Pauly MG, Kühn AA, Volkmann J, Lace B, Meijer IA, Kandaswamy K, Quadri M, Garavaglia B, Lohmann K, Bauer P, Mencacci NE, Lubbe SJ, Klein C, Bertoli-Avella AM, Bonifati V. Kuipers DJS, et al. Among authors: klein c. Ann Neurol. 2021 Mar;89(3):485-497. doi: 10.1002/ana.25973. Epub 2020 Dec 15. Ann Neurol. 2021. PMID: 33236446 Free PMC article.
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: klein c. 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
Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31.
Nygaard TG, Raymond D, Chen C, Nishino I, Greene PE, Jennings D, Heiman GA, Klein C, Saunders-Pullman RJ, Kramer P, Ozelius LJ, Bressman SB. Nygaard TG, et al. Among authors: klein c. Ann Neurol. 1999 Nov;46(5):794-8. doi: 10.1002/1531-8249(199911)46:5<794::aid-ana19>3.0.co;2-2. Ann Neurol. 1999. PMID: 10554001
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
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: klein c. Neurology. 2003 Jun 24;60(12):1988-90. doi: 10.1212/01.wnl.0000066020.99191.76. Neurology. 2003. PMID: 12821748
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: klein c. Neurology. 2004 Feb 10;62(3):389-94. doi: 10.1212/01.wnl.0000113022.51739.88. Neurology. 2004. PMID: 14872018
Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations.
Hedrich K, Meyer EM, Schüle B, Kock N, de Carvalho Aguiar P, Wiegers K, Koelman JH, Garrels J, Dürr R, Liu L, Schwinger E, Ozelius LJ, Landwehrmeyer B, Stoessl AJ, Tijssen MA, Klein C. Hedrich K, et al. Among authors: klein c. Neurology. 2004 Apr 13;62(7):1229-31. doi: 10.1212/01.wnl.0000118286.75059.35. Neurology. 2004. PMID: 15079037 No abstract available.
Genetic heterogeneity in ten families with myoclonus-dystonia.
Schüle B, Kock N, Svetel M, Dragasevic N, Hedrich K, De Carvalho Aguiar P, Liu L, Kabakci K, Garrels J, Meyer EM, Berisavac I, Schwinger E, Kramer PL, Ozelius LJ, Klein C, Kostic V. Schüle B, et al. Among authors: klein c. J Neurol Neurosurg Psychiatry. 2004 Aug;75(8):1181-5. doi: 10.1136/jnnp.2003.027177. J Neurol Neurosurg Psychiatry. 2004. PMID: 15258227 Free PMC article.
3,909 results