Brackmann F - Search Results

1

Novel MLL2 mutation in Kabuki syndrome with hypogammaglobulinemia and severe chronic thrombopenia.

Brackmann F, Krumbholz M, Langer T, Rascher W, Holter W, Metzler M. Brackmann F, et al. J Pediatr Hematol Oncol. 2013 Oct;35(7):e314-6. doi: 10.1097/MPH.0b013e3182707fa8. J Pediatr Hematol Oncol. 2013. PMID: 23042018

2

Rapidly progressive phenotype of Lafora disease associated with a novel NHLRC1 mutation.

Brackmann FA, Kiefer A, Agaimy A, Gencik M, Trollmann R. Brackmann FA, et al. Pediatr Neurol. 2011 Jun;44(6):475-7. doi: 10.1016/j.pediatrneurol.2011.01.012. Pediatr Neurol. 2011. PMID: 21555062

3

Glucocorticoid withdrawal - heterozygous carriers of congenital adrenal hyperplasia at risk?

Brackmann F, Dörr HG, Bartram CR, Hinderhofer K, Holter W, Langer T. Brackmann F, et al. Klin Padiatr. 2012 Oct;224(6):392-3. doi: 10.1055/s-0032-1321876. Epub 2012 Aug 22. Klin Padiatr. 2012. PMID: 22915453 No abstract available.

4

Classical MERRF phenotype associated with mitochondrial tRNA(Leu) (m.3243A>G) mutation.

Brackmann F, Abicht A, Ahting U, Schröder R, Trollmann R. Brackmann F, et al. Eur J Pediatr. 2012 May;171(5):859-62. doi: 10.1007/s00431-011-1662-8. Epub 2012 Jan 25. Eur J Pediatr. 2012. PMID: 22270878

5

Rare Variant of GM2 Gangliosidosis through Activator-Protein Deficiency.

Brackmann F, Kehrer C, Kustermann W, Böhringer J, Krägeloh-Mann I, Trollmann R. Brackmann F, et al. Neuropediatrics. 2017 Apr;48(2):127-130. doi: 10.1055/s-0037-1598646. Epub 2017 Feb 13. Neuropediatrics. 2017. PMID: 28192816

6

Compound heterozygous RYR1 mutations in a preterm with arthrogryposis multiplex congenita and prenatal CNS bleeding.

Brackmann F, Türk M, Gratzki N, Rompel O, Jungbluth H, Schröder R, Trollmann R. Brackmann F, et al. Neuromuscul Disord. 2018 Jan;28(1):54-58. doi: 10.1016/j.nmd.2017.09.009. Epub 2017 Sep 28. Neuromuscul Disord. 2018. PMID: 29169929

7

Histopathological proof of the pathogenicity of a rare GFAP mutation in a patient with flaccid paraparesis.

Brackmann F, Coras R, Rössler K, Kraus C, Rompel O, Trollmann R. Brackmann F, et al. Brain Dev. 2018 Apr;40(4):330-333. doi: 10.1016/j.braindev.2017.11.005. Epub 2017 Nov 27. Brain Dev. 2018. PMID: 29191363

8

Activin A regulation under global hypoxia in developing mouse brain.

Brackmann FA, Link AS, Jung S, Richter M, Zoglauer D, Walkinshaw G, Alzheimer C, Trollmann R. Brackmann FA, et al. Brain Res. 2013 Sep 19;1531:65-74. doi: 10.1016/j.brainres.2013.07.039. Epub 2013 Jul 31. Brain Res. 2013. PMID: 23916668

9

Ratiometric luminescence 2D in vivo imaging and monitoring of mouse skin oxygenation.

Hofmann J, Meier RJ, Mahnke A, Schatz V, Brackmann F, Trollmann R, Bogdan C, Liebsch G, Wang XD, Wolfbeis OS, Jantsch J. Hofmann J, et al. Among authors: brackmann f. Methods Appl Fluoresc. 2013 Aug 12;1(4):045002. doi: 10.1088/2050-6120/1/4/045002. Methods Appl Fluoresc. 2013. PMID: 29148451

10

Activin A in perinatal brain injury.

Brackmann FA, Alzheimer C, Trollmann R. Brackmann FA, et al. Neuropediatrics. 2015 Apr;46(2):82-7. doi: 10.1055/s-0035-1547345. Epub 2015 Mar 13. Neuropediatrics. 2015. PMID: 25769120 Review.

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