Wirth B - Search Results

1

Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years.

Vill K, Schwartz O, Blaschek A, Gläser D, Nennstiel U, Wirth B, Burggraf S, Röschinger W, Becker M, Czibere L, Durner J, Eggermann K, Olgemöller B, Harms E, Schara U, Kölbel H, Müller-Felber W. Vill K, et al. Among authors: wirth b. Orphanet J Rare Dis. 2021 Mar 31;16(1):153. doi: 10.1186/s13023-021-01783-8. Orphanet J Rare Dis. 2021. PMID: 33789695 Free PMC article.

2

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

3

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. Among authors: wirth b. Neuromuscul Disord. 1995 Jan;5(1):19-23. doi: 10.1016/0960-8966(94)e0025-4. Neuromuscul Disord. 1995. PMID: 7719136

4

Evidence of autosomal dominant mutations in childhood-onset proximal spinal muscular atrophy.

Rudnik-Schöneborn S, Wirth B, Zerres K. Rudnik-Schöneborn S, et al. Among authors: wirth b. Am J Hum Genet. 1994 Jul;55(1):112-9. Am J Hum Genet. 1994. PMID: 8023839 Free PMC article.

5

Autosomal recessive proximal spinal muscular atrophy in 101 sibs out of 48 families: clinical picture, influence of gender, and genetic implications.

Rudnik-Schöneborn S, Röhrig D, Morgan G, Wirth B, Zerres K. Rudnik-Schöneborn S, et al. Among authors: wirth b. Am J Med Genet. 1994 May 15;51(1):70-6. doi: 10.1002/ajmg.1320510115. Am J Med Genet. 1994. PMID: 8030672

6

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.

Hahnen E, Forkert R, Marke C, Rudnik-Schöneborn S, Schönling J, Zerres K, Wirth B. Hahnen E, et al. Among authors: wirth b. Hum Mol Genet. 1995 Oct;4(10):1927-33. doi: 10.1093/hmg/4.10.1927. Hum Mol Genet. 1995. PMID: 8595417

7

Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings.

Rudnik-Schöneborn S, Forkert R, Hahnen E, Wirth B, Zerres K. Rudnik-Schöneborn S, et al. Among authors: wirth b. Neuropediatrics. 1996 Feb;27(1):8-15. doi: 10.1055/s-2007-973741. Neuropediatrics. 1996. PMID: 8677029

8

Proximal and distal spinal muscular atrophy in one family: molecular genetic studies provide further evidence for the non-allelic origin of both diseases.

Spranger S, Rudnik-Schöneborn S, Spranger M, Schächtele M, Zerres K, Wirth B. Spranger S, et al. Among authors: wirth b. J Med Genet. 1997 Apr;34(4):340-2. doi: 10.1136/jmg.34.4.340. J Med Genet. 1997. PMID: 9138162 Free PMC article.

9

Spinal muscular atrophy--clinical and genetic correlations.

Zerres K, Wirth B, Rudnik-Schöneborn S. Zerres K, et al. Among authors: wirth b. Neuromuscul Disord. 1997 May;7(3):202-7. doi: 10.1016/s0960-8966(97)00459-8. Neuromuscul Disord. 1997. PMID: 9185186 Review.

10

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.

Wirth B, Herz M, Wetter A, Moskau S, Hahnen E, Rudnik-Schöneborn S, Wienker T, Zerres K. Wirth B, et al. Am J Hum Genet. 1999 May;64(5):1340-56. doi: 10.1086/302369. Am J Hum Genet. 1999. PMID: 10205265 Free PMC article.

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