Wirth B - Search Results

1

Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.

Mailman MD, Heinz JW, Papp AC, Snyder PJ, Sedra MS, Wirth B, Burghes AH, Prior TW. Mailman MD, et al. Among authors: wirth b. Genet Med. 2002 Jan-Feb;4(1):20-6. doi: 10.1097/00125817-200201000-00004. Genet Med. 2002. PMID: 11839954 Free article.

2

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

3

Mapping of the spinal muscular atrophy (SMA) gene to a 750-kb interval flanked by two new microsatellites.

Wirth B, el-Agwany A, Baasner A, Burghes A, Koch A, Dadze A, Piechaczeck-Wappenschmidt B, Rudnik-Schöneborn S, Zerres K, Schönling J. Wirth B, et al. Eur J Hum Genet. 1995;3(1):56-60. doi: 10.1159/000472274. Eur J Hum Genet. 1995. PMID: 7767657

4

Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy.

DiDonato CJ, Morgan K, Carpten JD, Fuerst P, Ingraham SE, Prescott G, McPherson JD, Wirth B, Zerres K, Hurko O, et al. DiDonato CJ, et al. Among authors: wirth b. Am J Hum Genet. 1994 Dec;55(6):1218-29. Am J Hum Genet. 1994. PMID: 7977383 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

Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease.

Hahnen E, Schönling J, Rudnik-Schöneborn S, Zerres K, Wirth B. Hahnen E, et al. Among authors: wirth b. Am J Hum Genet. 1996 Nov;59(5):1057-65. Am J Hum Genet. 1996. PMID: 8900234 Free PMC article.

7

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.

8

Different entities of proximal spinal muscular atrophy within one family.

Wirth B, Tessarolo D, Hahnen E, Rudnik-Schöneborn S, Raschke H, Liguori M, Giacanelli M, Zerres K. Wirth B, et al. Hum Genet. 1997 Oct;100(5-6):676-80. doi: 10.1007/s004390050572. Hum Genet. 1997. PMID: 9341891

9

De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling.

Wirth B, Schmidt T, Hahnen E, Rudnik-Schöneborn S, Krawczak M, Müller-Myhsok B, Schönling J, Zerres K. Wirth B, et al. Am J Hum Genet. 1997 Nov;61(5):1102-11. doi: 10.1086/301608. Am J Hum Genet. 1997. PMID: 9345102 Free PMC article.

10

SMN oligomerization defect correlates with spinal muscular atrophy severity.

Lorson CL, Strasswimmer J, Yao JM, Baleja JD, Hahnen E, Wirth B, Le T, Burghes AH, Androphy EJ. Lorson CL, et al. Among authors: wirth b. Nat Genet. 1998 May;19(1):63-6. doi: 10.1038/ng0598-63. Nat Genet. 1998. PMID: 9590291

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