Uhlenberg B - Search Results

1

Leukoencephalopathy with ataxia, hypodontia, and hypomyelination.

Wolf NI, Harting I, Boltshauser E, Wiegand G, Koch MJ, Schmitt-Mechelke T, Martin E, Zschocke J, Uhlenberg B, Hoffmann GF, Weber L, Ebinger F, Rating D. Wolf NI, et al. Among authors: uhlenberg b. Neurology. 2005 Apr 26;64(8):1461-4. doi: 10.1212/01.WNL.0000158615.56071.E3. Neurology. 2005. PMID: 15851747

2

Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.

Nafisinia M, Sobreira N, Riley L, Gold W, Uhlenberg B, Weiß C, Boehm C, Prelog K, Ouvrier R, Christodoulou J. Nafisinia M, et al. Among authors: uhlenberg b. Eur J Hum Genet. 2017 Oct;25(10):1134-1141. doi: 10.1038/ejhg.2017.119. Epub 2017 Jul 26. Eur J Hum Genet. 2017. PMID: 28905880 Free PMC article.

3

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.

Uhlenberg B, Schuelke M, Rüschendorf F, Ruf N, Kaindl AM, Henneke M, Thiele H, Stoltenburg-Didinger G, Aksu F, Topaloğlu H, Nürnberg P, Hübner C, Weschke B, Gärtner J. Uhlenberg B, et al. Am J Hum Genet. 2004 Aug;75(2):251-60. doi: 10.1086/422763. Epub 2004 Jun 10. Am J Hum Genet. 2004. PMID: 15192806 Free PMC article.

4

Analysis of human alternative first exons and copy number variation of the GJA12 gene in patients with Pelizaeus-Merzbacher-like disease.

Ruf N, Uhlenberg B. Ruf N, et al. Among authors: uhlenberg b. Am J Med Genet B Neuropsychiatr Genet. 2009 Mar 5;150B(2):226-32. doi: 10.1002/ajmg.b.30792. Am J Med Genet B Neuropsychiatr Genet. 2009. PMID: 18521858

5

Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects.

Arélin M, Schulze B, Müller-Myhsok B, Horn D, Diers A, Uhlenberg B, Nürnberg P, Nürnberg G, Becker C, Mundlos S, Lindner TH, Sperling K, Hoffmann K. Arélin M, et al. Among authors: uhlenberg b. Eur J Hum Genet. 2013 Apr;21(4):367-72. doi: 10.1038/ejhg.2012.198. Epub 2012 Oct 3. Eur J Hum Genet. 2013. PMID: 23032112 Free PMC article.

6

Oligodendroglial transcription factor (OLIG1 and OLIG2) mutations are not associated with Pelizaeus-Merzbacher-like leukodystrophy.

Ruf N, Martelli M, Weschke B, Uhlenberg B. Ruf N, et al. Among authors: uhlenberg b. Am J Med Genet B Neuropsychiatr Genet. 2007 Apr 5;144B(3):365-6. doi: 10.1002/ajmg.b.30434. Am J Med Genet B Neuropsychiatr Genet. 2007. PMID: 17171653

7

Identification of transcripts from a subtraction library which might be responsible for the mild phenotype in an intrafamilially variable course of Duchenne muscular dystrophy.

Sifringer M, Uhlenberg B, Lammel S, Hanke R, Neumann B, von Moers A, Koch I, Speer A. Sifringer M, et al. Among authors: uhlenberg b. Hum Genet. 2004 Jan;114(2):149-56. doi: 10.1007/s00439-003-1041-2. Epub 2003 Nov 5. Hum Genet. 2004. PMID: 14600829

8

The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI).

Ruf N, Uhlenberg B, Terkeltaub R, Nürnberg P, Rutsch F. Ruf N, et al. Among authors: uhlenberg b. Hum Mutat. 2005 Jan;25(1):98. doi: 10.1002/humu.9297. Hum Mutat. 2005. PMID: 15605415

9

Polyoma virus-associated progressive multifocal leukoencephalopathy after renal transplantation: regression following withdrawal of mycophenolate mofetil.

Weber SC, Uhlenberg B, Raile K, Querfeld U, Müller D. Weber SC, et al. Among authors: uhlenberg b. Pediatr Transplant. 2011 Mar;15(2):E19-24. doi: 10.1111/j.1399-3046.2010.01368.x. Epub 2010 Sep 29. Pediatr Transplant. 2011. PMID: 20880091

10

Atypical manifestation of childhood primary cerebral lymphoma restricted to the leptomeninges.

Uhlenberg B, Reich S, Varnholt V, van Landeghem FK, Scheer I, Berdel D, von Stackelberg A, von Moers A. Uhlenberg B, et al. Eur J Pediatr. 2005 Oct;164(10):653-4. doi: 10.1007/s00431-005-1734-8. Epub 2005 Jul 26. Eur J Pediatr. 2005. PMID: 16044275 No abstract available.

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