Sabine Rudnik‐Schöneborn
Innsbruck Medical University(AT)Universität Innsbruck(AT)
Publications by Year
Research Areas
Neurogenetic and Muscular Disorders Research, RNA modifications and cancer, Congenital Anomalies and Fetal Surgery, Genetic and Kidney Cyst Diseases, Metabolism and Genetic Disorders
Most-Cited Works
- → PKHD1, the Polycystic Kidney and Hepatic Disease 1 Gene, Encodes a Novel Large Protein Containing Multiple Immunoglobulin-Like Plexin-Transcription–Factor Domains and Parallel Beta-Helix 1 Repeats(2002)508 cited
- → 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(1999)363 cited
- → Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)(2005)344 cited
- → Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1(2001)341 cited
- → A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients(1997)288 cited
- → Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals