Henneke M - Search Results

1

A novel remitting leukodystrophy associated with a variant in FBP2.

Gizak A, Diegmann S, Dreha-Kulaczewski S, Wiśniewski J, Duda P, Ohlenbusch A, Huppke B, Henneke M, Höhne W, Altmüller J, Thiele H, Nürnberg P, Rakus D, Gärtner J, Huppke P. Gizak A, et al. Among authors: henneke m. Brain Commun. 2021 Mar 11;3(2):fcab036. doi: 10.1093/braincomms/fcab036. eCollection 2021. Brain Commun. 2021. PMID: 33977262 Free PMC article.

2

Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review.

Kettwig M, Elpeleg O, Wegener E, Dreha-Kulaczewski S, Henneke M, Gärtner J, Huppke P. Kettwig M, et al. Among authors: henneke m. BMC Neurol. 2016 May 21;16:74. doi: 10.1186/s12883-016-0602-7. BMC Neurol. 2016. PMID: 27206732 Free PMC article. Review.

3

Opening New Horizons in the Treatment of Childhood Onset Leukodystrophies.

Schiller S, Henneke M, Gärtner J. Schiller S, et al. Among authors: henneke m. Neuropediatrics. 2019 Aug;50(4):211-218. doi: 10.1055/s-0039-1685529. Epub 2019 May 21. Neuropediatrics. 2019. PMID: 31113002 Review.

4

RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.

Henneke M, Diekmann S, Ohlenbusch A, Kaiser J, Engelbrecht V, Kohlschütter A, Krätzner R, Madruga-Garrido M, Mayer M, Opitz L, Rodriguez D, Rüschendorf F, Schumacher J, Thiele H, Thoms S, Steinfeld R, Nürnberg P, Gärtner J. Henneke M, et al. Nat Genet. 2009 Jul;41(7):773-5. doi: 10.1038/ng.398. Epub 2009 Jun 14. Nat Genet. 2009. PMID: 19525954

5

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. Hum Mutat. 2003 Nov;22(5):417. doi: 10.1002/humu.9187. Hum Mutat. 2003. PMID: 14517957

6

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: henneke m. Hum Mutat. 2005 Apr;25(4):411. doi: 10.1002/humu.9325. Hum Mutat. 2005. PMID: 15776425

7

Assessment of myelination in hypomyelinating disorders by quantitative MRI.

Dreha-Kulaczewski SF, Brockmann K, Henneke M, Dechent P, Wilken B, Gärtner J, Helms G. Dreha-Kulaczewski SF, et al. Among authors: henneke m. J Magn Reson Imaging. 2012 Dec;36(6):1329-38. doi: 10.1002/jmri.23774. Epub 2012 Aug 21. J Magn Reson Imaging. 2012. PMID: 22911904

8

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. 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

9

In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency.

Henneke M, Dreha-Kulaczewski S, Brockmann K, van der Graaf M, Willemsen MA, Engelke U, Dechent P, Heerschap A, Helms G, Wevers RA, Gärtner J. Henneke M, et al. NMR Biomed. 2010 Jun;23(5):441-5. doi: 10.1002/nbm.1480. NMR Biomed. 2010. PMID: 20175147

10

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: henneke m. 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.

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