Oexle K - Search Results

1

Gempt J, Ringel F, Oexle K, Delbridge C, Förschler A, Schlegel J, Meyer B, Schmidt-Graf F. Gempt J, et al. Among authors: oexle k. Acta Neurochir (Wien). 2012 Aug;154(8):1413-6. doi: 10.1007/s00701-012-1402-5. Epub 2012 Jun 15. Acta Neurochir (Wien). 2012. PMID: 22699425

2

Islet cell antibodies in diabetes mellitus associated with a mitochondrial tRNA(Leu(UUR)) gene mutation.

Oexle K, Oberle J, Finckh B, Kohlschütter A, Nagy M, Seibel P, Seissler J, Hübner C. Oexle K, et al. Exp Clin Endocrinol Diabetes. 1996;104(3):212-7. doi: 10.1055/s-0029-1211445. Exp Clin Endocrinol Diabetes. 1996. PMID: 8817238

3

Advanced telomere shortening in respiratory chain disorders.

Oexle K, Zwirner A. Oexle K, et al. Hum Mol Genet. 1997 Jun;6(6):905-8. doi: 10.1093/hmg/6.6.905. Hum Mol Genet. 1997. PMID: 9175737

4

On dystrophin abundance and C-terminal missense mutations in dystrophinopathies.

Oexle K, Heyer R. Oexle K, et al. Ann Neurol. 1999 Jul;46(1):137-8. doi: 10.1002/1531-8249(199907)46:1<137::aid-ana26>3.0.co;2-i. Ann Neurol. 1999. PMID: 10401797 No abstract available.

5

PMP22 Thr118Met is not a clinically relevant CMT1 marker.

Young P, Stögbauer F, Eller B, de Jonghe P, Löfgren A, Timmerman V, Rautenstrauss B, Oexle K, Grehl H, Kuhlenbäumer G, Van Broeckhoven C, Ringelstein EB, Funke H. Young P, et al. Among authors: oexle k. J Neurol. 2000 Sep;247(9):696-700. doi: 10.1007/s004150070113. J Neurol. 2000. PMID: 11081809

6

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.

Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, Jacob RL, Hübner C, Oexle K, Anderson JR, Verity CM, North KN, Iannaccone ST, Müller CR, Nürnberg P, Muntoni F, Sewry C, Hughes I, Sutphen R, Lacson AG, Swoboda KJ, Vigneron J, Wallgren-Pettersson C, Beggs AH, Laing NG. Nowak KJ, et al. Among authors: oexle k. Nat Genet. 1999 Oct;23(2):208-12. doi: 10.1038/13837. Nat Genet. 1999. PMID: 10508519

7

Epigenetic Association Analyses and Risk Prediction of RLS.

Harrer P, Mirza-Schreiber N, Mandel V, Roeber S, Stefani A, Naher S, Wagner M, Gieger C, Waldenberger M, Peters A, Högl B, Herms J, Schormair B, Zhao C, Winkelmann J, Oexle K. Harrer P, et al. Among authors: oexle k. Mov Disord. 2023 Aug;38(8):1410-1418. doi: 10.1002/mds.29440. Epub 2023 May 22. Mov Disord. 2023. PMID: 37212434

8

Congenital myopathy with excess of thin myofilaments.

Goebel HH, Anderson JR, Hübner C, Oexle K, Warlo I. Goebel HH, et al. Among authors: oexle k. Neuromuscul Disord. 1997 May;7(3):160-8. doi: 10.1016/s0960-8966(97)00441-0. Neuromuscul Disord. 1997. PMID: 9185179

9

Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation.

Grafakou O, Oexle K, van den Heuvel L, Smeets R, Trijbels F, Goebel HH, Bosshard N, Superti-Furga A, Steinmann B, Smeitink J. Grafakou O, et al. Among authors: oexle k. Eur J Pediatr. 2003 Oct;162(10):714-8. doi: 10.1007/s00431-003-1282-z. Epub 2003 Aug 19. Eur J Pediatr. 2003. PMID: 12925875

10

Calculation of the reliability of the allopurinol load in detecting carriers for ornithine transcarbamylase deficiency.

Oexle K. Oexle K. J Inherit Metab Dis. 2006 Feb;29(1):241. doi: 10.1007/s10545-006-0198-y. J Inherit Metab Dis. 2006. PMID: 16601906 No abstract available.

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