Gärtner J - Search Results

1

Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).

Koop O, Schirmacher A, Nelis E, Timmerman V, De Jonghe P, Ringelstein B, Rasic VM, Evrard P, Gärtner J, Claeys KG, Appenzeller S, Rautenstrauss B, Hühne K, Ramos-Arroyo MA, Wörle H, Moilanen JS, Hammans S, Kuhlenbäumer G. Koop O, et al. Among authors: gartner j. Neuromuscul Disord. 2007 Aug;17(8):624-30. doi: 10.1016/j.nmd.2007.03.012. Epub 2007 Jun 22. Neuromuscul Disord. 2007. PMID: 17587580

2

Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations.

Brockmann K, Dreha-Kulaczewski S, Dechent P, Bönnemann C, Helms G, Kyllerman M, Brück W, Frahm J, Huehne K, Gärtner J, Rautenstrauss B. Brockmann K, et al. Among authors: gartner j. J Neurol. 2008 Jul;255(7):1049-58. doi: 10.1007/s00415-008-0847-1. Epub 2008 Apr 21. J Neurol. 2008. PMID: 18425620 Free article.

3

GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.

Henneke M, Combes P, Diekmann S, Bertini E, Brockmann K, Burlina AP, Kaiser J, Ohlenbusch A, Plecko B, Rodriguez D, Boespflug-Tanguy O, Gärtner J. Henneke M, et al. Among authors: gartner j. Neurology. 2008 Mar 4;70(10):748-54. doi: 10.1212/01.wnl.0000284828.84464.35. Epub 2007 Dec 19. Neurology. 2008. PMID: 18094336

4

Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe.

Koehler K, Brockmann K, Krumbholz M, Kind B, Bönnemann C, Gärtner J, Huebner A. Koehler K, et al. Among authors: gartner j. Eur J Hum Genet. 2008 Dec;16(12):1499-506. doi: 10.1038/ejhg.2008.132. Epub 2008 Jul 16. Eur J Hum Genet. 2008. PMID: 18628786

5

Is there a phenotype/genotype correlation in peroxisome biogenesis disorders (PBDs)?

Gärtner J. Gärtner J. Adv Exp Med Biol. 2003;544:59-65. doi: 10.1007/978-1-4419-9072-3_7. Adv Exp Med Biol. 2003. PMID: 14713213 Review. No abstract available.

6

Cystic leukoencephalopathy without megalencephaly: a distinct disease entity in 15 children.

Henneke M, Preuss N, Engelbrecht V, Aksu F, Bertini E, Bibat G, Brockmann K, Hübner C, Mayer M, Mejaski-Bosnjak V, Naidu S, Neumaier-Probst E, Rodriguez D, Weisz W, Kohlschütter A, Gärtner J. Henneke M, et al. Among authors: gartner j. Neurology. 2005 Apr 26;64(8):1411-6. doi: 10.1212/01.WNL.0000158472.82823.01. Neurology. 2005. PMID: 15851732

7

Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency.

Grapp M, Just IA, Linnankivi T, Wolf P, Lücke T, Häusler M, Gärtner J, Steinfeld R. Grapp M, et al. Among authors: gartner j. Brain. 2012 Jul;135(Pt 7):2022-31. doi: 10.1093/brain/aws122. Epub 2012 May 13. Brain. 2012. PMID: 22586289

8

Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations.

Rosewich H, Ohlenbusch A, Gärtner J. Rosewich H, et al. Among authors: gartner j. J Med Genet. 2005 Sep;42(9):e58. doi: 10.1136/jmg.2005.033324. J Med Genet. 2005. PMID: 16141001 Free PMC article.

9

Typical cMRI pattern as diagnostic clue for D-bifunctional protein deficiency without apparent biochemical abnormalities in plasma.

Grønborg S, Krätzner R, Spiegler J, Ferdinandusse S, Wanders RJ, Waterham HR, Gärtner J. Grønborg S, et al. Among authors: gartner j. Am J Med Genet A. 2010 Nov;152A(11):2845-9. doi: 10.1002/ajmg.a.33677. Am J Med Genet A. 2010. PMID: 20949532

10

Mutation analysis of the M6b gene in patients with Pelizaeus-Merzbacher-like syndrome.

Henneke M, Wehner LE, Hennies HC, Preuss N, Gärtner J. Henneke M, et al. Among authors: gartner j. Am J Med Genet A. 2004 Jul 15;128A(2):156-8. doi: 10.1002/ajmg.a.30068. Am J Med Genet A. 2004. PMID: 15214007

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