Bittner RE - Search Results

1

Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.

Rost S, Bach E, Neuner C, Nanda I, Dysek S, Bittner RE, Keller A, Bartsch O, Mlynski R, Haaf T, Müller CR, Kunstmann E. Rost S, et al. Among authors: bittner re. Eur J Hum Genet. 2014 Feb;22(2):208-15. doi: 10.1038/ejhg.2013.108. Epub 2013 May 29. Eur J Hum Genet. 2014. PMID: 23714752 Free PMC article.

2

DNA damage, somatic aneuploidy, and malignant sarcoma susceptibility in muscular dystrophies.

Schmidt WM, Uddin MH, Dysek S, Moser-Thier K, Pirker C, Höger H, Ambros IM, Ambros PF, Berger W, Bittner RE. Schmidt WM, et al. Among authors: bittner re. PLoS Genet. 2011 Apr;7(4):e1002042. doi: 10.1371/journal.pgen.1002042. Epub 2011 Apr 14. PLoS Genet. 2011. PMID: 21533183 Free PMC article.

3

Voltage-gated ion channel dysfunction precedes cardiomyopathy development in the dystrophic heart.

Koenig X, Dysek S, Kimbacher S, Mike AK, Cervenka R, Lukacs P, Nagl K, Dang XB, Todt H, Bittner RE, Hilber K. Koenig X, et al. Among authors: bittner re. PLoS One. 2011;6(5):e20300. doi: 10.1371/journal.pone.0020300. Epub 2011 May 23. PLoS One. 2011. PMID: 21677768 Free PMC article.

4

Parental source effect on inherited mutations in the dystrophin gene of mice and humans.

Kress W, Grimm T, Müller CR, Keller H, Bittner R. Kress W, et al. Acta Genet Med Gemellol (Roma). 1996;45(1-2):251-3. doi: 10.1017/s0001566000001409. Acta Genet Med Gemellol (Roma). 1996. PMID: 8872041 No abstract available.

5

Sarcolemmal expression of dystrophin C-terminus but reduced expression of 6q-dystrophin-related protein in two DMD patients with large deletions of the dystrophin gene.

Bittner RE, Shorny S, Ferlings R, Sperl W, Kress W, Müller CR, Cremer M, Léger JJ, Voit T. Bittner RE, et al. Neuromuscul Disord. 1995 Mar;5(2):81-92. doi: 10.1016/0960-8966(94)00032-5. Neuromuscul Disord. 1995. PMID: 7767097

6

Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation.

Baumann M, Steichen-Gersdorf E, Krabichler B, Petersen BS, Weber U, Schmidt WM, Zschocke J, Müller T, Bittner RE, Janecke AR. Baumann M, et al. Among authors: bittner re. Eur J Hum Genet. 2017 Feb;25(2):262-266. doi: 10.1038/ejhg.2016.144. Epub 2016 Oct 26. Eur J Hum Genet. 2017. PMID: 27782104 Free PMC article.

7

Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene.

Haubenberger D, Bittner RE, Rauch-Shorny S, Zimprich F, Mannhalter C, Wagner L, Mineva I, Vass K, Auff E, Zimprich A. Haubenberger D, et al. Among authors: bittner re. Neurology. 2005 Oct 25;65(8):1304-5. doi: 10.1212/01.wnl.0000180407.15369.92. Neurology. 2005. PMID: 16247064

8

Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia.

Schmidt WM, Rutledge SL, Schüle R, Mayerhofer B, Züchner S, Boltshauser E, Bittner RE. Schmidt WM, et al. Among authors: bittner re. Am J Hum Genet. 2015 Dec 3;97(6):855-61. doi: 10.1016/j.ajhg.2015.10.011. Epub 2015 Nov 12. Am J Hum Genet. 2015. PMID: 26581903 Free PMC article.

9

Connexin 26 mutations in cases of sensorineural deafness in eastern Austria.

Frei K, Szuhai K, Lucas T, Weipoltshammer K, Schöfer C, Ramsebner R, Baumgartner WD, Raap AK, Bittner R, Wachtler FJ, Kirschhofer K. Frei K, et al. Eur J Hum Genet. 2002 Jul;10(7):427-32. doi: 10.1038/sj.ejhg.5200826. Eur J Hum Genet. 2002. PMID: 12107817

10

Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large(myd) mouse defines a natural model for glycosylation-deficient muscle - eye - brain disorders.

Holzfeind PJ, Grewal PK, Reitsamer HA, Kechvar J, Lassmann H, Hoeger H, Hewitt JE, Bittner RE. Holzfeind PJ, et al. Among authors: bittner re. Hum Mol Genet. 2002 Oct 1;11(21):2673-87. doi: 10.1093/hmg/11.21.2673. Hum Mol Genet. 2002. PMID: 12354792

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

91 results

Search Page