Gärtner J - Search Results

1

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

2

Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes.

Braun A, Ambach H, Kammerer S, Rolinski B, Stöckler S, Rabl W, Gärtner J, Zierz S, Roscher AA. Braun A, et al. Among authors: gartner j. Am J Hum Genet. 1995 Apr;56(4):854-61. Am J Hum Genet. 1995. PMID: 7717396 Free PMC article.

3

Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype.

Gärtner J, Preuss N, Brosius U, Biermanns M. Gärtner J, et al. J Inherit Metab Dis. 1999 May;22(3):311-3. doi: 10.1023/a:1005599903632. J Inherit Metab Dis. 1999. PMID: 10384394 No abstract available.

4

Two polymorphic mutations (c2331A>C and IVS11+142insAGAAATTTTAAGTCTT) in the human peroxin 1 gene (PEX1).

Preuss N, Gärtner J. Preuss N, et al. Among authors: gartner j. Hum Mutat. 2001 Apr;17(4):353. doi: 10.1002/humu.40. Hum Mutat. 2001. PMID: 11295839 No abstract available.

5

PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease.

Preuss N, Brosius U, Biermanns M, Muntau AC, Conzelmann E, Gartner J. Preuss N, et al. Among authors: gartner j. Pediatr Res. 2002 Jun;51(6):706-14. doi: 10.1203/00006450-200206000-00008. Pediatr Res. 2002. PMID: 12032265

6

Maple syrup urine disease: mutation analysis in Turkish patients.

Dursun A, Henneke M, Ozgül K, Gartner J, Coşkun T, Tokatli A, Kalkanoğlu HS, Demirkol M, Wendel U, Ozalp I. Dursun A, et al. Among authors: gartner j. J Inherit Metab Dis. 2002 May;25(2):89-97. doi: 10.1023/a:1015668425004. J Inherit Metab Dis. 2002. PMID: 12118532

7

Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease.

Henneke M, Flaschker N, Helbling C, Müller M, Schadewaldt P, Gärtner J, Wendel U. Henneke M, et al. Among authors: gartner j. Hum Mutat. 2003 Nov;22(5):417. doi: 10.1002/humu.9187. Hum Mutat. 2003. PMID: 14517957

8

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. Among authors: gartner j. 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.

9

Identification of ten novel mutations in patients with eIF2B-related disorders.

Ohlenbusch A, Henneke M, Brockmann K, Goerg M, Hanefeld F, Kohlschütter A, Gärtner J. Ohlenbusch A, et al. Among authors: gartner j. Hum Mutat. 2005 Apr;25(4):411. doi: 10.1002/humu.9325. Hum Mutat. 2005. PMID: 15776425

10

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

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