Kramer PL - Search Results

1

Clinical and genetic evaluation of a family with a mixed dystonia phenotype from South Tyrol.

Klein C, Pramstaller PP, Castellan CC, Breakefield XO, Kramer PL, Ozelius LJ. Klein C, et al. Among authors: kramer pl. Ann Neurol. 1998 Sep;44(3):394-8. doi: 10.1002/ana.410440318. Ann Neurol. 1998. PMID: 9749609

2

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: kramer pl. Ann Neurol. 2002 Nov;52(5):675-9. doi: 10.1002/ana.10358. Ann Neurol. 2002. PMID: 12402271

3

Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium.

Ozelius LJ, Hewett J, Kramer P, Bressman SB, Shalish C, de Leon D, Rutter M, Risch N, Brin MF, Markova ED, Limborska SA, Ivanova-Smolenskaya IA, McCormick MK, Fahn S, Buckler AJ, Gusella JF, Breakefield XO. Ozelius LJ, et al. Genome Res. 1997 May;7(5):483-94. doi: 10.1101/gr.7.5.483. Genome Res. 1997. PMID: 9149944 Free article.

4

Association of a missense change in the D2 dopamine receptor with myoclonus dystonia.

Klein C, Brin MF, Kramer P, Sena-Esteves M, de Leon D, Doheny D, Bressman S, Fahn S, Breakefield XO, Ozelius LJ. Klein C, et al. Proc Natl Acad Sci U S A. 1999 Apr 27;96(9):5173-6. doi: 10.1073/pnas.96.9.5173. Proc Natl Acad Sci U S A. 1999. PMID: 10220438 Free PMC article.

5

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. 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

6

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

7

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. Neurology. 2002 Oct 22;59(8):1187-96. doi: 10.1212/wnl.59.8.1187. Neurology. 2002. PMID: 12391346

8

Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34.

Kwiatkowski DJ, Ozelius L, Kramer PL, Perman S, Schuback DE, Gusella JF, Fahn S, Breakefield XO. Kwiatkowski DJ, et al. Among authors: kramer pl. Am J Hum Genet. 1991 Aug;49(2):366-71. Am J Hum Genet. 1991. PMID: 1867195 Free PMC article.

9

Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34.

Kramer PL, de Leon D, Ozelius L, Risch N, Bressman SB, Brin MF, Schuback DE, Burke RE, Kwiatkowski DJ, Shale H, et al. Kramer PL, et al. Ann Neurol. 1990 Feb;27(2):114-20. doi: 10.1002/ana.410270203. Ann Neurol. 1990. PMID: 2317008

10

Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation.

Bressman SB, de Leon D, Kramer PL, Ozelius LJ, Brin MF, Greene PE, Fahn S, Breakefield XO, Risch NJ. Bressman SB, et al. Among authors: kramer pl. Ann Neurol. 1994 Nov;36(5):771-7. doi: 10.1002/ana.410360514. Ann Neurol. 1994. PMID: 7979224

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