Henneke M - Search Results

1

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.

2

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. Neurology. 2005 Apr 26;64(8):1411-6. doi: 10.1212/01.WNL.0000158472.82823.01. Neurology. 2005. PMID: 15851732

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. 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

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

5

Clinical neurophysiology in GJA12-related hypomyelination vs Pelizaeus-Merzbacher disease.

Henneke M, Gegner S, Hahn A, Plecko-Startinig B, Weschke B, Gärtner J, Brockmann K. Henneke M, et al. Neurology. 2010 Jun 1;74(22):1785-9. doi: 10.1212/WNL.0b013e3181e0f820. Neurology. 2010. PMID: 20513814

6

West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation.

Banne E, Atawneh O, Henneke M, Brockmann K, Gärtner J, Elpeleg O, Edvardson S. Banne E, et al. Among authors: henneke m. J Med Genet. 2013 Nov;50(11):772-5. doi: 10.1136/jmedgenet-2013-101752. Epub 2013 Jun 28. J Med Genet. 2013. PMID: 23812912

7

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.

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

Pelizaeus-Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction.

Diekmann S, Henneke M, Burckhardt BC, Gärtner J. Diekmann S, et al. Among authors: henneke m. Eur J Hum Genet. 2010 Sep;18(9):985-92. doi: 10.1038/ejhg.2010.61. Epub 2010 May 5. Eur J Hum Genet. 2010. PMID: 20442743 Free PMC article.

10

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.

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