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Results: 1-11 |
Results: 11
Enuresis and urinary incontinence in children and adolescents with spinal muscular atrophy
Authors: von Gontard, A Laufersweiler-Plass, C Backes, M Zerres, K Rudnik-Schoneborn, S
Citation: A. Von Gontard et al., Enuresis and urinary incontinence in children and adolescents with spinal muscular atrophy, BJU INT, 88(4), 2001, pp. 409-413
Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1
Authors: Grohmann, K Schuelke, M Diers, A Hoffmann, K Lucke, B Adams, C Bertini, E Leonhardt-Horti, H Muntoni, F Ouvrier, R Pfeufer, A Rossi, R Van Maldergem, L Wilmshurst, JM Wienker, TR Sendtner, M Rudnik-Schoneborn, S Zerres, K Hubner, C
Citation: K. Grohmann et al., Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1, NAT GENET, 29(1), 2001, pp. 75-77
DNA diagnosis in hereditary nephropathies
Authors: Zerres, K Eggermann, T Rudnik-Schoneborn, S
Citation: K. Zerres et al., DNA diagnosis in hereditary nephropathies, CLIN NEPHR, 56(3), 2001, pp. 181-192
Cystic kidney disease
Authors: Zerres, K Eggermann, T Rudnik-Schoneborn, S
Citation: K. Zerres et al., Cystic kidney disease, NIEREN HOCH, 30(6), 2001, pp. 278-288
Phenotypic variation of a novel nonsense mutation in the P0 intracellular domain
Authors: Senderek, J Ramaekers, VT Zerres, K Rudnik-Schoneborn, S Schroder, JM Bergmann, C
Citation: J. Senderek et al., Phenotypic variation of a novel nonsense mutation in the P0 intracellular domain, J NEUR SCI, 192(1-2), 2001, pp. 49-51
The predictive value of achieved motor milestones assessed in 441 patientswith infantile spinal muscular atrophy types II and III
Authors: Rudnik-Schoneborn, S Hausmanowa-Petrusewicz, I Borkowska, J Zerres, K
Citation: S. Rudnik-schoneborn et al., The predictive value of achieved motor milestones assessed in 441 patientswith infantile spinal muscular atrophy types II and III, EUR NEUROL, 45(3), 2001, pp. 174-181
An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA)
Authors: Helmken, C Wetter, A Rudnik-Schoneborn, S Liehr, T Zerres, K Wirth, B
Citation: C. Helmken et al., An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA), EUR J HUM G, 8(7), 2000, pp. 493-499
Hereditary kidney diseases
Authors: Zerres, K Rudnik-Schoneborn, S
Citation: K. Zerres et S. Rudnik-schoneborn, Hereditary kidney diseases, INTERNIST, 40(5), 1999, pp. 534-542
Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form is linked to chromosome 11q13-q21
Authors: Grohmann, K Wienker, TF Saar, K Rudnik-Schoneborn, S Stoltenburg-Didinger, G Rossi, R Novelli, G Nurnberg, G Pfeufer, A Wirth, B Reis, A Zerres, K Hubner, C
Citation: K. Grohmann et al., Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form is linked to chromosome 11q13-q21, AM J HU GEN, 65(5), 1999, pp. 1459-1462
Quantitative analysis of survival motor neuron copies: Identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling
Authors: Wirth, B Herz, M Wetter, A Moskau, S Hahnen, E Rudnik-Schoneborn, S Wienker, T Zerres, K
Citation: B. Wirth et al., Quantitative analysis of survival motor neuron copies: Identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling, AM J HU GEN, 64(5), 1999, pp. 1340-1356
Different patterns of obstetric complications in myotonic dystrophy in relation to the disease status of the fetus
Authors: Rudnik-Schoneborn, S Nicholson, GA Morgan, G Rohrig, D Zerres, K
Citation: S. Rudnik-schoneborn et al., Different patterns of obstetric complications in myotonic dystrophy in relation to the disease status of the fetus, AM J MED G, 80(4), 1998, pp. 314-321
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