Pramstaller PP - Search Results

1

Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia.

Klein C, Hedrich K, Kabakçi K, Mohrmann K, Wiegers K, Landt O, Hagenah J, Schwinger E, Pramstaller PP, Ozelius LJ, Gucuyener K, Aysun S, Demir E. Klein C, et al. Among authors: pramstaller pp. Neurology. 2002 Dec 10;59(11):1783-6. doi: 10.1212/01.wnl.0000035629.04791.3f. Neurology. 2002. PMID: 12473771

2

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: pramstaller pp. Ann Neurol. 1998 Sep;44(3):394-8. doi: 10.1002/ana.410440318. Ann Neurol. 1998. PMID: 9749609

3

Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects.

Klein C, Friedman J, Bressman S, Vieregge P, Brin MF, Pramstaller PP, De Leon D, Hagenah J, Sieberer M, Fleet C, Kiely R, Xin W, Breakefield XO, Ozelius LJ, Sims KB. Klein C, et al. Among authors: pramstaller pp. Genet Test. 1999;3(4):323-8. doi: 10.1089/gte.1999.3.323. Genet Test. 1999. PMID: 10627938

4

Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype.

Klein C, Pramstaller PP, Kis B, Page CC, Kann M, Leung J, Woodward H, Castellan CC, Scherer M, Vieregge P, Breakefield XO, Kramer PL, Ozelius LJ. Klein C, et al. Among authors: pramstaller pp. Ann Neurol. 2000 Jul;48(1):65-71. Ann Neurol. 2000. PMID: 10894217

5

[Genetics of dystonia].

Klein C, Kann M, Kis B, Pramstaller PP, Breakefield XO, Ozelius LJ, Vieregge P. Klein C, et al. Among authors: pramstaller pp. Nervenarzt. 2000 Jun;71(6):431-41. doi: 10.1007/s001150050604. Nervenarzt. 2000. PMID: 10919137 Review. German.

6

Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene.

Hilker R, Klein C, Ghaemi M, Kis B, Strotmann T, Ozelius LJ, Lenz O, Vieregge P, Herholz K, Heiss WD, Pramstaller PP. Hilker R, et al. Among authors: pramstaller pp. Ann Neurol. 2001 Mar;49(3):367-76. Ann Neurol. 2001. PMID: 11261512

7

The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism.

Hedrich K, Kann M, Lanthaler AJ, Dalski A, Eskelson C, Landt O, Schwinger E, Vieregge P, Lang AE, Breakefield XO, Ozelius LJ, Pramstaller PP, Klein C. Hedrich K, et al. Among authors: pramstaller pp. Hum Mol Genet. 2001 Aug 1;10(16):1649-56. doi: 10.1093/hmg/10.16.1649. Hum Mol Genet. 2001. PMID: 11487568

8

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. Among authors: pramstaller pp. Neurogenetics. 2001 Jul;3(3):133-43. doi: 10.1007/s100480100111. Neurogenetics. 2001. PMID: 11523564

9

Genome-wide scan for Parkinson's disease: the GenePD Study.

DeStefano AL, Golbe LI, Mark MH, Lazzarini AM, Maher NE, Saint-Hilaire M, Feldman RG, Guttman M, Watts RL, Suchowersky O, Lafontaine AL, Labelle N, Lew MF, Waters CH, Growdon JH, Singer C, Currie LJ, Wooten GF, Vieregge P, Pramstaller PP, Klein C, Hubble JP, Stacy M, Montgomery E, MacDonald ME, Gusella JF, Myers RH. DeStefano AL, et al. Among authors: pramstaller pp. Neurology. 2001 Sep 25;57(6):1124-6. doi: 10.1212/wnl.57.6.1124. Neurology. 2001. PMID: 11571351

10

Epidemiologic study of 203 sibling pairs with Parkinson's disease: the GenePD study.

Maher NE, Golbe LI, Lazzarini AM, Mark MH, Currie LJ, Wooten GF, Saint-Hilaire M, Wilk JB, Volcjak J, Maher JE, Feldman RG, Guttman M, Lew M, Waters CH, Schuman S, Suchowersky O, Lafontaine AL, Labelle N, Vieregge P, Pramstaller PP, Klein C, Hubble J, Reider C, Growdon J, Watts R, Montgomery E, Baker K, Singer C, Stacy M, Myers RH. Maher NE, et al. Among authors: pramstaller pp. Neurology. 2002 Jan 8;58(1):79-84. doi: 10.1212/wnl.58.1.79. Neurology. 2002. PMID: 11781409

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