AAAAAA

   
Results: 1-15 |
Results: 15
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
The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich's ataxia
Authors: Bit-Avragim, N Perrot, A Schols, L Hardt, C Kreuz, FR Zuhlke, C Bubel, S Laccone, F Vogel, HP Dietz, R Osterziel, KJ
Citation: N. Bit-avragim et al., The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich's ataxia, J MOL MED-J, 78(11), 2001, pp. 626-632
Genomic organization of the human NFAT5 gene: exon-intron structure of the14-kb transcript and CpG-island analysis of the promoter region
Authors: Dalski, A Schwinger, E Zuhlke, C
Citation: A. Dalski et al., Genomic organization of the human NFAT5 gene: exon-intron structure of the14-kb transcript and CpG-island analysis of the promoter region, CYTOG C GEN, 93(3-4), 2001, pp. 239-241
Executive dysfunction in spinocerebellar ataxia type 1
Authors: Burk, S Bosch, S Globas, C Zuhlke, C Daum, I Klockgether, T Dichgans, J
Citation: S. Burk et al., Executive dysfunction in spinocerebellar ataxia type 1, EUR NEUROL, 46(1), 2001, pp. 43-48
Sporadic cerebellar ataxia associated with gluten sensitivity
Authors: Burk, K Bosch, S Muller, CA Melms, A Zuhlke, C Stern, M Besenthal, I Skalej, M Ruck, P Ferber, S Klockgether, T Dichgans, J
Citation: K. Burk et al., Sporadic cerebellar ataxia associated with gluten sensitivity, BRAIN, 124, 2001, pp. 1013-1019
Limited somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions identified by small pool PCR in blood leukocytes
Authors: Hellenbroich, Y Schwinger, E Zuhlke, C
Citation: Y. Hellenbroich et al., Limited somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions identified by small pool PCR in blood leukocytes, ACT NEUR SC, 103(3), 2001, pp. 188-192
Pressure dependence of the Mg 3s4s(3)S(1) -> 3s3p(3)P(0,1,2) transition insuperfluid He-4
Authors: Baumann, I Breidenassel, A Zuhlke, C Kasimov, A Putlitz, GZ Reinhard, I Jungmann, K
Citation: I. Baumann et al., Pressure dependence of the Mg 3s4s(3)S(1) -> 3s3p(3)P(0,1,2) transition insuperfluid He-4, EUR PHY J D, 12(1), 2000, pp. 117-122
Assignment of transcription factor NFAT5 to human chromosome 16q22.1, murine chromosome 8D and porcine chromosome 6p1.4 and comparison of the polyglutamine domains
Authors: Hebinck, A Dalski, A Engel, H Mattei, MG Hawken, R Schwinger, E Zuhlke, C
Citation: A. Hebinck et al., Assignment of transcription factor NFAT5 to human chromosome 16q22.1, murine chromosome 8D and porcine chromosome 6p1.4 and comparison of the polyglutamine domains, CYTOG C GEN, 90(1-2), 2000, pp. 68-70
Rapid detection of expansions by PCR and non-radioactive hybridization: application for prenatal diagnosis of myotonic dystrophy
Authors: Zuhlke, C Atici, J Martorell, L Gembruch, U Kohl, M Gopel, W Schwinger, E
Citation: C. Zuhlke et al., Rapid detection of expansions by PCR and non-radioactive hybridization: application for prenatal diagnosis of myotonic dystrophy, PRENAT DIAG, 20(1), 2000, pp. 66-69
Quantitative PCR analysis of different splice forms of NFAT5 revealed specific gene expression in fetal and adult brain
Authors: Dalski, A Wagner, HJ Schwinger, E Zuhlke, C
Citation: A. Dalski et al., Quantitative PCR analysis of different splice forms of NFAT5 revealed specific gene expression in fetal and adult brain, MOL BRAIN R, 83(1-2), 2000, pp. 125-127
Machado-Joseph disease presenting as severe generalised dystonia in a German patient
Authors: Munchau, A Dressler, D Bhatia, KP Vogel, P Zuhlke, C
Citation: A. Munchau et al., Machado-Joseph disease presenting as severe generalised dystonia in a German patient, J NEUROL, 246(9), 1999, pp. 840-842
Spinocerebellar ataxia type 7: frequency of CAG repeat length in a German family
Authors: Kreuz, FR Grunewald, T Muller, A Reichmann, H Zuhlke, C
Citation: Fr. Kreuz et al., Spinocerebellar ataxia type 7: frequency of CAG repeat length in a German family, J NEUROL, 246(11), 1999, pp. 1105-1106
DNA analysis of Huntington's disease - Five years of experience in Germany, Austria, and Switzerland
Authors: Laccone, F Engel, U Holinski-Feder, E Weigell-Weber, M Marczinek, K Nolte, D Morris-Rosendahl, DJ Zuhlke, C Fuchs, K Weirich-Schwaiger, H Schluter, G von Beust, G Vieira-Saecker, AMM Weber, BHF Riess, O
Citation: F. Laccone et al., DNA analysis of Huntington's disease - Five years of experience in Germany, Austria, and Switzerland, NEUROLOGY, 53(4), 1999, pp. 801-806
Spinocerebellar ataxia type 6: Evidence for a strong founder effect among German families
Authors: Dichgans, M Schols, L Herzog, J Stevanin, G Weirich-Schwaiger, H Rouleau, G Burk, K Klockgether, T Zuhlke, C Laccone, F Riess, O Gasser, T
Citation: M. Dichgans et al., Spinocerebellar ataxia type 6: Evidence for a strong founder effect among German families, NEUROLOGY, 52(4), 1999, pp. 849-851
Linkage disequilibrium and haplotype analysis in German Friedreich ataxia families
Authors: Zuhlke, C Gehlken, U Purmann, S Kunisch, M Muller-Myhsok, B Kreuz, F Laccone, F
Citation: C. Zuhlke et al., Linkage disequilibrium and haplotype analysis in German Friedreich ataxia families, HUMAN HERED, 49(2), 1999, pp. 90-96
Risultati: 1-15 |