Publications by authors named "Birgit Uhlenberg"

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Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.
Michael Nafisinia, Nara Sobreira, Lisa Riley, Wendy Gold, Birgit Uhlenberg

Eur J Hum Genet· October 2017

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Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects.
Maria Arélin, Bernt Schulze, Bertram Müller-Myhsok, Denise Horn, Alexander Diers, Birgit Uhlenberg

Eur J Hum Genet· April 2013

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Polyoma virus-associated progressive multifocal leukoencephalopathy after renal transplantation: regression following withdrawal of mycophenolate mofetil.
Sven C Weber, Birgit Uhlenberg, Klemens Raile, Uwe Querfeld, Dominik Müller

Pediatr Transplant· March 2011

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Epithelioid hemangioendothelioma of the lung presenting with pneumonia and heart rhythm disturbances in a teenage girl.
Susanne Reich, Hannelore Ringe, Birgit Uhlenberg, Berit Fischer, Verena Varnholt

J Pediatr Hematol Oncol· May 2010

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

Am J Med Genet B Neuropsychiatr Genet· March 2009

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Cognitive functioning, behavior, and quality of life after stroke in childhood.
Regula Everts, Julia Pavlovic, Franz Kaufmann, Birgit Uhlenberg, Ulrich Seidel

Child Neuropsychol· July 2008

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Atypical tetanus in a completely immunized 14-year-old boy.
Kai König, Hannelore Ringe, Brigitte G Dorner, Alexander Diers, Birgit Uhlenberg

Pediatrics· November 2007

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Oligodendroglial transcription factor (OLIG1 and OLIG2) mutations are not associated with Pelizaeus-Merzbacher-like leukodystrophy.
Nico Ruf, Mara Martelli, Bernhard Weschke, Birgit Uhlenberg

Am J Med Genet B Neuropsychiatr Genet· April 2007

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Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
Philippa B Mills, Eduard Struys, Cornelis Jakobs, Barbara Plecko, Peter Baxter, Birgit Uhlenberg

Nat Med· March 2006

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Atypical manifestation of childhood primary cerebral lymphoma restricted to the leptomeninges.
Birgit Uhlenberg, Susanne Reich, Verena Varnholt, Frank K H van Landeghem, Ianina Scheer

Eur J Pediatr· October 2005

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The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI).
Nico Ruf, Birgit Uhlenberg, Robert Terkeltaub, Peter Nürnberg, Frank Rutsch

Hum Mutat· January 2005

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Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.
Birgit Uhlenberg, Markus Schuelke, Franz Rüschendorf, Nico Ruf, Angela M Kaindl

Am J Hum Genet· August 2004

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Identification of transcripts from a subtraction library which might be responsible for the mild phenotype in an intrafamilially variable course of Duchenne muscular dystrophy.
Marco Sifringer, Birgit Uhlenberg, Stefanie Lammel, Rita Hanke, Benjamin Neumann

Hum Genet· January 2004

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