AAAAAA

   
Results: 1-16 |
Results: 16
Mutation spectrum in patients with Rett syndrome in the German population:Evidence of hot spot regions
Authors: Laccone, F Huppke, P Hanefeld, F Meins, M
Citation: F. Laccone et al., Mutation spectrum in patients with Rett syndrome in the German population:Evidence of hot spot regions, HUM MUTAT, 17(3), 2001, pp. 183-190
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
Restless legs syndrome in spinocerebellar ataxia types 1, 2, and 3
Authors: Abele, M Burk, K Laccone, F Dichgans, J Klockgether, T
Citation: M. Abele et al., Restless legs syndrome in spinocerebellar ataxia types 1, 2, and 3, J NEUROL, 248(4), 2001, pp. 311-314
Pseudo dicentric chromosome (5;21): a rare example of maternal germline mosaicism
Authors: Engel, U Bohlander, SK Bink, K Hinney, B Laccone, F Bartels, I
Citation: U. Engel et al., Pseudo dicentric chromosome (5;21): a rare example of maternal germline mosaicism, HUM REPR, 16(1), 2001, pp. 63-66
MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin
Authors: Trappe, R Laccone, F Cobilanschi, J Meins, M Huppke, P Hanefeld, F Engel, W
Citation: R. Trappe et al., MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin, AM J HU GEN, 68(5), 2001, pp. 1093-1101
Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients
Authors: Huppke, P Laccone, F Kramer, N Engel, W Hanefeld, F
Citation: P. Huppke et al., Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients, HUM MOL GEN, 9(9), 2000, pp. 1369-1375
No evidence for imprinting in distal 18q
Authors: Maiwald, R Overhauser, J Laccone, F
Citation: R. Maiwald et al., No evidence for imprinting in distal 18q, J MED GENET, 37(2), 2000, pp. 152-156
A recurrent expansion of a maternal allele with 36 CAG repeats causes Huntington disease in two sisters
Authors: Laccone, F Christian, W
Citation: F. Laccone et W. Christian, A recurrent expansion of a maternal allele with 36 CAG repeats causes Huntington disease in two sisters, AM J HU GEN, 66(3), 2000, pp. 1145-1148
A fast polymerase chain reaction-mediated strategy for introducing repeat expansions into CAG-repeat containing genes
Authors: Laccone, F Maiwald, R Bingemann, S
Citation: F. Laccone et al., A fast polymerase chain reaction-mediated strategy for introducing repeat expansions into CAG-repeat containing genes, HUM MUTAT, 13(6), 1999, pp. 497-502
A European pilot quality assessment scheme for molecular diagnosis of Huntington's disease
Authors: Losekoot, M Bakker, B Laccone, F Stenhouse, S Elles, R
Citation: M. Losekoot et al., A European pilot quality assessment scheme for molecular diagnosis of Huntington's disease, EUR J HUM G, 7(2), 1999, pp. 217-222
Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3
Authors: Burk, K Fetter, M Abele, M Laccone, F Brice, A Dichgans, J Klockgether, T
Citation: K. Burk et al., Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3, J NEUROL, 246(9), 1999, pp. 789-797
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
Age related axonal neuropathy in spinocerebellar ataxia type 3 Machado-Joseph disease (SCA3/MJD)
Authors: Klockgether, T Schols, L Abele, M Burk, K Topka, H Andres, F Amoiridis, G Ludtke, R Riess, O Laccone, F Dichgans, J
Citation: T. Klockgether et al., Age related axonal neuropathy in spinocerebellar ataxia type 3 Machado-Joseph disease (SCA3/MJD), J NE NE PSY, 66(2), 1999, pp. 222-224
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
Activated immune system in patients with Huntington's disease
Authors: Leblhuber, F Walli, J Jellinger, K Tilz, GP Widner, B Laccone, F Fuchs, D
Citation: F. Leblhuber et al., Activated immune system in patients with Huntington's disease, CLIN CH L M, 36(10), 1998, pp. 747-750
Risultati: 1-16 |