Steinbach P - Search Results

1

Quantification of brain atrophy in patients with myotonic dystrophy and proximal myotonic myopathy: a controlled 3-dimensional magnetic resonance imaging study.

Kassubek J, Juengling FD, Hoffmann S, Rosenbohm A, Kurt A, Jurkat-Rott K, Steinbach P, Wolf M, Ludolph AC, Lehmann-Horn F, Lerche H, Weber YG. Kassubek J, et al. Among authors: steinbach p. Neurosci Lett. 2003 Sep 11;348(2):73-6. doi: 10.1016/s0304-3940(03)00740-7. Neurosci Lett. 2003. PMID: 12902021

2

Comparative analysis of brain structure, metabolism, and cognition in myotonic dystrophy 1 and 2.

Weber YG, Roebling R, Kassubek J, Hoffmann S, Rosenbohm A, Wolf M, Steinbach P, Jurkat-Rott K, Walter H, Reske SN, Lehmann-Horn F, Mottaghy FM, Lerche H. Weber YG, et al. Among authors: steinbach p. Neurology. 2010 Apr 6;74(14):1108-17. doi: 10.1212/WNL.0b013e3181d8c35f. Epub 2010 Mar 10. Neurology. 2010. PMID: 20220122

3

The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeat.

Steinbach P, Gläser D, Vogel W, Wolf M, Schwemmle S. Steinbach P, et al. Am J Hum Genet. 1998 Feb;62(2):278-85. doi: 10.1086/301711. Am J Hum Genet. 1998. PMID: 9463318 Free PMC article.

4

The epidemiology of CuZn-SOD mutations in Germany: a study of 217 families.

Rabe M, Felbecker A, Waibel S, Steinbach P, Winter P, Müller U, Ludolph AC. Rabe M, et al. Among authors: steinbach p. J Neurol. 2010 Aug;257(8):1298-302. doi: 10.1007/s00415-010-5512-9. Epub 2010 Mar 23. J Neurol. 2010. PMID: 20309572

5

Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro: evidence for a casual involvement of methyl-directed DNA mismatch repair in triplet repeat stability.

Wöhrle D, Kennerknecht I, Wolf M, Enders H, Schwemmle S, Steinbach P. Wöhrle D, et al. Among authors: steinbach p. Hum Mol Genet. 1995 Jul;4(7):1147-53. doi: 10.1093/hmg/4.7.1147. Hum Mol Genet. 1995. PMID: 8528201

6

Detection of long-term progression of myocardial fibrosis in Duchenne muscular dystrophy in an affected family: a cardiovascular magnetic resonance study.

Walcher T, Steinbach P, Spiess J, Kunze M, Gradinger R, Walcher D, Bernhardt P. Walcher T, et al. Among authors: steinbach p. Eur J Radiol. 2011 Oct;80(1):115-9. doi: 10.1016/j.ejrad.2010.07.005. Epub 2010 Aug 3. Eur J Radiol. 2011. PMID: 20685051

7

Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic?

Felbecker A, Camu W, Valdmanis PN, Sperfeld AD, Waibel S, Steinbach P, Rouleau GA, Ludolph AC, Andersen PM. Felbecker A, et al. Among authors: steinbach p. J Neurol Neurosurg Psychiatry. 2010 May;81(5):572-7. doi: 10.1136/jnnp.2009.192310. J Neurol Neurosurg Psychiatry. 2010. PMID: 20460594 Free article.

8

Does proximal myotonic myopathy show anticipation?

Kruse B, Wöhrle D, Steinbach P, Gal A. Kruse B, et al. Among authors: steinbach p. Hum Mutat. 2008 Aug;29(8):E100-2. doi: 10.1002/humu.20791. Hum Mutat. 2008. PMID: 18484632

9

Multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to interstitial deletion 1q.

Steinbach P, Wolf M, Schmidt H. Steinbach P, et al. Am J Med Genet. 1984 Sep;19(1):131-6. doi: 10.1002/ajmg.1320190114. Am J Med Genet. 1984. PMID: 6496565

10

Characterization of FMR1 promoter elements by in vivo-footprinting analysis.

Schwemmle S, de Graaff E, Deissler H, Gläser D, Wöhrle D, Kennerknecht I, Just W, Oostra BA, Döerfler W, Vogel W, Steinbach P. Schwemmle S, et al. Among authors: steinbach p. Am J Hum Genet. 1997 Jun;60(6):1354-62. doi: 10.1086/515456. Am J Hum Genet. 1997. PMID: 9199556 Free PMC article.

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