Rudnik-Schöneborn S - Search Results

1

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.

Wan J, Steffen J, Yourshaw M, Mamsa H, Andersen E, Rudnik-Schöneborn S, Pope K, Howell KB, McLean CA, Kornberg AJ, Joseph J, Lockhart PJ, Zerres K, Ryan MM, Nelson SF, Koehler CM, Jen JC. Wan J, et al. Brain. 2016 Nov 1;139(11):2877-2890. doi: 10.1093/brain/aww212. Brain. 2016. PMID: 27543974 Free PMC article.

2

Pregnancy and spinal muscular atrophy.

Rudnik-Schöneborn S, Zerres K, Ignatius J, Rietschel M. Rudnik-Schöneborn S, et al. J Neurol. 1992 Jan;239(1):26-30. doi: 10.1007/BF00839207. J Neurol. 1992. PMID: 1541965 Review.

3

Clinical variability of autosomal dominant spinal muscular atrophy.

Rietschel M, Rudnik-Schöneborn S, Zerres K. Rietschel M, et al. J Neurol Sci. 1992 Jan;107(1):65-73. doi: 10.1016/0022-510x(92)90210-c. J Neurol Sci. 1992. PMID: 1578236

4

No evidence for linkage of autosomal dominant proximal spinal muscular atrophies to chromosome 5q markers.

Kausch K, Müller CR, Grimm T, Ricker K, Rietschel M, Rudnik-Schöneborn S, Zerres K. Kausch K, et al. Hum Genet. 1991 Jan;86(3):317-8. doi: 10.1007/BF00202419. Hum Genet. 1991. PMID: 1997389

5

[Johanson-Blizzard syndrome].

Rudnik-Schöneborn S, Keller B, Beemer FA, Pistor K, Swanenburg de Veye HF, Zerres K. Rudnik-Schöneborn S, et al. Klin Padiatr. 1991 Jan-Feb;203(1):33-8. doi: 10.1055/s-2007-1025396. Klin Padiatr. 1991. PMID: 2027265 German.

6

Course of autosomal recessive polycystic kidney disease (ARPKD) in siblings: a clinical comparison of 20 sibships.

Deget F, Rudnik-Schöneborn S, Zerres K. Deget F, et al. Clin Genet. 1995 May;47(5):248-53. doi: 10.1111/j.1399-0004.1995.tb04305.x. Clin Genet. 1995. PMID: 7554350 Review.

7

Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs.

Wirth B, Hahnen E, Morgan K, DiDonato CJ, Dadze A, Rudnik-Schöneborn S, Simard LR, Zerres K, Burghes AH. Wirth B, et al. Hum Mol Genet. 1995 Aug;4(8):1273-84. doi: 10.1093/hmg/4.8.1273. Hum Mol Genet. 1995. PMID: 7581364

8

Prenatal prediction in families with autosomal recessive proximal spinal muscular atrophy (5q11.2-q13.3): molecular genetics and clinical experience in 109 cases.

Wirth B, Rudnik-Schöneborn S, Hahnen E, Röhrig D, Zerres K. Wirth B, et al. Prenat Diagn. 1995 May;15(5):407-17. doi: 10.1002/pd.1970150503. Prenat Diagn. 1995. PMID: 7644431

9

Exclusion of the gene locus for spinal muscular atrophy on chromosome 5q in a family with infantile olivopontocerebellar atrophy (OPCA) and anterior horn cell degeneration.

Rudnik-Schöneborn S, Wirth B, Röhrig D, Saule H, Zerres K. Rudnik-Schöneborn S, et al. Neuromuscul Disord. 1995 Jan;5(1):19-23. doi: 10.1016/0960-8966(94)e0025-4. Neuromuscul Disord. 1995. PMID: 7719136

10

On genetic heterogeneity, anticipation, and imprinting in polycystic kidney diseases.

Zerres K, Rudnik-Schöneborn S. Zerres K, et al. Nephrol Dial Transplant. 1995;10(1):7-9. Nephrol Dial Transplant. 1995. PMID: 7724032 Review. No abstract available.

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