Rudnik-Schöneborn S - Search Results

1

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.

Senderek J, Krieger M, Stendel C, Bergmann C, Moser M, Breitbach-Faller N, Rudnik-Schöneborn S, Blaschek A, Wolf NI, Harting I, North K, Smith J, Muntoni F, Brockington M, Quijano-Roy S, Renault F, Herrmann R, Hendershot LM, Schröder JM, Lochmüller H, Topaloglu H, Voit T, Weis J, Ebinger F, Zerres K. Senderek J, et al. Nat Genet. 2005 Dec;37(12):1312-4. doi: 10.1038/ng1678. Epub 2005 Nov 13. Nat Genet. 2005. PMID: 16282977

2

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

3

Heterogeneity in proximal spinal muscular atrophy.

Zerres K, Rudnik-Schöneborn S, Rietschel M. Zerres K, et al. Lancet. 1990 Sep 22;336(8717):749-50. doi: 10.1016/0140-6736(90)92243-b. Lancet. 1990. PMID: 1975919 No abstract available.

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

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.

6

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

7

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

8

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

9

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.

10

Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications.

Zerres K, Rudnik-Schöneborn S. Zerres K, et al. Arch Neurol. 1995 May;52(5):518-23. doi: 10.1001/archneur.1995.00540290108025. Arch Neurol. 1995. PMID: 7733848

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