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Results: 1-25 | 26-33
Results: 1-25/33
Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia
Authors: Zuhlke, C Hellenbroich, Y Dalski, A Kononowa, N Hagenah, J Vieregge, P Riess, O Klein, C Schwinger, E
Citation: C. Zuhlke et al., Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia, EUR J HUM G, 9(3), 2001, pp. 160-164
Evaluation of the gamma-synuclein gene in German Parkinson's disease patients
Authors: Kruger, R Schols, L Muller, T Kuhn, W Woitalla, D Przuntek, H Epplen, JT Riess, O
Citation: R. Kruger et al., Evaluation of the gamma-synuclein gene in German Parkinson's disease patients, NEUROSCI L, 310(2-3), 2001, pp. 191-193
Functional characterization of the human Huntington's disease gene promoter
Authors: Carsten, H Schmidt, T Thiel, G Epplen, JT Riess, O
Citation: H. Carsten et al., Functional characterization of the human Huntington's disease gene promoter, MOL BRAIN R, 92(1-2), 2001, pp. 85-97
Familial parkinsonism with synuclein pathology - Clinical and PET studies of A30P mutation carriers
Authors: Kruger, R Kuhn, W Leenders, KL Sprengelmeyer, R Muller, T Woitalla, D Portman, AT Maguire, RP Veenma, L Schroder, U Schols, L Epplen, JT Riess, O Przuntek, H
Citation: R. Kruger et al., Familial parkinsonism with synuclein pathology - Clinical and PET studies of A30P mutation carriers, NEUROLOGY, 56(10), 2001, pp. 1355-1362
Association of moderate polyglutamine tract expansions in the slow calcium-activated potassium channel type 3 with ataxia
Authors: Figueroa, KP Chan, P Schols, L Tanner, C Riess, O Perlman, SL Geschwind, DH Pulst, SM
Citation: Kp. Figueroa et al., Association of moderate polyglutamine tract expansions in the slow calcium-activated potassium channel type 3 with ataxia, ARCH NEUROL, 58(10), 2001, pp. 1649-1653
Ancestral origins of the Machado-Joseph disease mutation: A worldwide haplotype study
Authors: Gaspar, C Lopes-Cendes, I Hayes, S Goto, J Arvidsson, K Dias, A Silveira, I Maciel, P Coutinho, P Lima, M Zhou, YX Soong, BW Watanabe, M Giunti, P Stevanin, G Riess, O Sasaki, H Hsieh, M Nicholson, GA Brunt, E Higgins, JJ Lauritzen, M Tranebjaerg, L Volpini, V Wood, N Ranum, L Tsuji, S Brice, A Sequeiros, J Rouleau, GA
Citation: C. Gaspar et al., Ancestral origins of the Machado-Joseph disease mutation: A worldwide haplotype study, AM J HU GEN, 68(2), 2001, pp. 523-528
Allelic distribution of CTG18.1 in Caucasian populations: association studies in bipolar disorder, schizophrenia, and ataxia
Authors: Mclnnis, MG Swift-Scanlanl, T Mahoney, AT Vincent, J Verheyen, G Lan, TH Oruc, L Riess, O Van Broeckhoven, C Chen, H Kennedy, JL MacKinnon, DF Margolis, RL Simpson, SG McMahon, FJ Gershon, E Nurnberger, J Reich, T DePaulo, JR Ross, CA
Citation: Mg. Mclnnis et al., Allelic distribution of CTG18.1 in Caucasian populations: association studies in bipolar disorder, schizophrenia, and ataxia, MOL PSYCHI, 5(4), 2000, pp. 439-442
The dopamine D2 receptor (DRD2) gene - a genetic risk factor in heavy smoking?
Authors: Batra, A Gelfort, G Bartels, M Smoltczyk, H Buchkremer, G Riess, O Schols, L
Citation: A. Batra et al., The dopamine D2 receptor (DRD2) gene - a genetic risk factor in heavy smoking?, ADDICT BIOL, 5(4), 2000, pp. 429-436
Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion
Authors: Wieczorek, D Krause, M Majewski, F Albrecht, B Horn, D Riess, O Gillessen-Kaesbach, G
Citation: D. Wieczorek et al., Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion, EUR J HUM G, 8(7), 2000, pp. 519-526
CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2)
Authors: Hayes, S Turecki, G Brisebois, K Lopes-Cendes, I Gaspar, C Riess, O Ranum, LPW Pulst, SM Rouleau, GA
Citation: S. Hayes et al., CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2), HUM MOL GEN, 9(12), 2000, pp. 1753-1758
Genome search for susceptibility loci of common idiopathic generalised epilepsies
Authors: Sander, T Schulz, H Saar, K Gennaro, E Riggio, MC Bianchi, A Zara, F Luna, D Bulteau, C Kaminska, A Ville, D Cieuta, C Picard, F Prud'homme, JF Bate, L Sundquist, A Gardiner, RM Janssen, GAMAJ de Haan, GJ Kasteleijn-Nolst-Trenite, DGA Bader, A Lindhout, D Riess, O Wienker, TF Janz, D Reis, A
Citation: T. Sander et al., Genome search for susceptibility loci of common idiopathic generalised epilepsies, HUM MOL GEN, 9(10), 2000, pp. 1465-1472
Genetic analysis of the alpha 2-macroglobulin gene in early- and late-onset Parkinson's disease
Authors: Kruger, R Menezes-Saecker, AMV Schols, L Kuhn, W Muller, T Woitalla, D Berg, D Berger, K Przuntek, H Epplen, JT Riess, O
Citation: R. Kruger et al., Genetic analysis of the alpha 2-macroglobulin gene in early- and late-onset Parkinson's disease, NEUROREPORT, 11(11), 2000, pp. 2439-2442
Mutation analysis and association studies of the UCHL1 gene in German Parkinson's disease patients
Authors: Wintermeyer, P Kruger, R Kuhn, W Muller, T Woitalla, D Berg, D Becker, G Leroy, E Polymeropoulos, M Berger, K Przuntek, H Schols, L Epplen, JT Riess, O
Citation: P. Wintermeyer et al., Mutation analysis and association studies of the UCHL1 gene in German Parkinson's disease patients, NEUROREPORT, 11(10), 2000, pp. 2079-2082
Genetic background of apparently idiopathic sporadic cerebellar ataxia
Authors: Schols, L Szymanski, S Peters, S Przuntek, H Epplen, JT Hardt, C Riess, O
Citation: L. Schols et al., Genetic background of apparently idiopathic sporadic cerebellar ataxia, HUM GENET, 107(2), 2000, pp. 132-137
Genetic influence on the development of Parkinson's disease
Authors: Riess, O Kuhn, W Kruger, R
Citation: O. Riess et al., Genetic influence on the development of Parkinson's disease, J NEUROL, 247, 2000, pp. 69-74
Genetic analysis of immunomodulating factors in sporadic Parkinson's disease
Authors: Kruger, R Hardt, C Tschentscher, F Jackel, S Kuhn, W Muller, T Werner, J Woitalla, D Berg, D Kuhnl, N Fuchs, GA Santos, EJM Przuntek, H Epplen, JT Schols, L Riess, O
Citation: R. Kruger et al., Genetic analysis of immunomodulating factors in sporadic Parkinson's disease, J NEURAL TR, 107(5), 2000, pp. 553-562
Involvement of alpha-synuclein in Parkinson's disease and other neurodegenerative disorders
Authors: Kruger, R Muller, T Riess, O
Citation: R. Kruger et al., Involvement of alpha-synuclein in Parkinson's disease and other neurodegenerative disorders, J NEURAL TR, 107(1), 2000, pp. 31-40
Unexpected high frequency of de novo unbalanced translocations in patientswith Wolf-Hirschhorn syndrome (WHS)
Authors: Wieczorek, D Krause, M Majewski, F Albrecht, B Meinecke, P Riess, O Gillessen-Kaesbach, G
Citation: D. Wieczorek et al., Unexpected high frequency of de novo unbalanced translocations in patientswith Wolf-Hirschhorn syndrome (WHS), J MED GENET, 37(10), 2000, pp. 798-804
Extrapyramidal motor signs in degenerative ataxias
Authors: Schols, L Peters, S Szymanski, S Kruger, R Lange, S Hardt, C Riess, O Przuntek, H
Citation: L. Schols et al., Extrapyramidal motor signs in degenerative ataxias, ARCH NEUROL, 57(10), 2000, pp. 1495-1500
Expansion of a novel CAG trinucleotide repeat in the 5 ' region of PPP2R2Bis associated with SCA12
Authors: Holmes, SE O'Hearn, EE McInnis, MG Gorelick-Feldman, DA Kleiderlein, JJ Callahan, C Kwak, NG Ingersoll-Ashworth, RG Sherr, M Sumner, AJ Sharp, AH Ananth, U Seltzer, WK Boss, MA Vieria-Saecker, AM Epplen, JT Riess, O Ross, CA Margolis, RL
Citation: Se. Holmes et al., Expansion of a novel CAG trinucleotide repeat in the 5 ' region of PPP2R2Bis associated with SCA12, NAT GENET, 23(4), 1999, pp. 391-392
Length variation of a polyglutamine array in the gene encoding a small-conductance, calcium-activated potassium channel (hKCa3) and susceptibility toidiopathic generalized epilepsy
Authors: Sander, T Scholz, L Janz, D Epplen, JT Riess, O
Citation: T. Sander et al., Length variation of a polyglutamine array in the gene encoding a small-conductance, calcium-activated potassium channel (hKCa3) and susceptibility toidiopathic generalized epilepsy, EPILEPSY R, 33(2-3), 1999, pp. 227-233
Increased susceptibility to sporadic Parkinson's disease by a certain combined alpha-synuclein/apolipoprotein E genotype
Authors: Kruger, R Vieira-Saecker, AMM Kuhn, W Berg, D Muller, T Kuhnl, N Fuchs, GA Storch, A Hungs, M Woitalla, D Przuntek, H Epplen, JT Schols, L Riess, O
Citation: R. Kruger et al., Increased susceptibility to sporadic Parkinson's disease by a certain combined alpha-synuclein/apolipoprotein E genotype, ANN NEUROL, 45(5), 1999, pp. 611-617
Parkinson's disease - a multifactorial neurodegenerative disorder
Authors: Riess, O Kruger, R
Citation: O. Riess et R. Kruger, Parkinson's disease - a multifactorial neurodegenerative disorder, J NEUR TR-S, (56), 1999, pp. 113-125
The alpha(1)-antichymotrypsin A-allele in German Parkinson disease patients
Authors: Grasbon-Frodl, EM Egensperger, R Kosel, S Kruger, R Riess, O Mehraein, P Graeber, MB
Citation: Em. Grasbon-frodl et al., The alpha(1)-antichymotrypsin A-allele in German Parkinson disease patients, J NEURAL TR, 106(7-8), 1999, pp. 729-736
Analysis of the Parkin deletion in sporadic and familial Parkinson's disease
Authors: Kruger, R Vieira-Sacker, AMM Kuhn, W Muller, T Woitalla, D Schols, L Przuntek, H Epplen, JT Riess, O
Citation: R. Kruger et al., Analysis of the Parkin deletion in sporadic and familial Parkinson's disease, J NEURAL TR, 106(2), 1999, pp. 159-163
Risultati: 1-25 | 26-33