Author Henneke, Marco
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2002 | Journal Article | Research Paper
Maple syrup urine disease: Mutation analysis in Turkish patients
Dursun, A.; Henneke, M.; Ozgul, K.; Gärtner, J. ; Coskun, T.; Tokatli, A. & Kalkanoglu, H. S. et al. (2002)
Journal of Inherited Metabolic Disease, 25(2) pp. 89-97. DOI: https://doi.org/10.1023/A:1015668425004
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2003 | Journal Article
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. (2003)
Human Mutation, 22(5) pp. 417-417. DOI: https://doi.org/10.1002/humu.9187
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2004 | Journal Article | Research Paper
Mutation analysis of the M6b gene in patients with Pelizaeus-Merzbacher-Like syndrome
Henneke, M.; Wehner, L. E.; Hennies, H. C.; Preuss, N. & Gärtner, J. (2004)
American Journal of Medical Genetics, 128A(2) pp. 156-158. DOI: https://doi.org/10.1002/ajmg.a.30068
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2004 | Journal Article | Research Paper
Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease
Uhlenberg, B.; Schuelke, M.; Ruschendorf, F.; Ruf, N.; Kaindl, A. M.; Henneke, M. & Thiele, H. et al. (2004)
American journal of human genetics, 75(2) pp. 251-260. DOI: https://doi.org/10.1086/422763
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2006 | Journal Article | Research Paper
Pitfall in metabolic screening in a patient with fatal peroxisomal beta-oxidation defect
Rosewich, H. ; Waterham, H. R.; Wanders, R. J. A.; Ferdinandusse, S.; Henneke, M.; Hunneman, D. H. & Gärtner, J. (2006)
Neuropediatrics, 37(2) pp. 95-98. DOI: https://doi.org/10.1055/s-2006-923943
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2006 | Journal Article
Multiplex ligation-dependent probe amplification for rapid detection of proteolipid protein I gene duplications and deletions in affected males and carrier females with Pelizaeus-Merzbacher disease
Warshawsky, I.; Chernova, O. B.; Hubner, C. A.; Stindl, R.; Henneke, M.; Gal, A. & Natowicz, M. R. (2006)
Clinical Chemistry, 52(7) pp. 1267-1275. DOI: https://doi.org/10.1373/clinchem.2006.067967
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2007 | Journal Article
Hypomyelination with atrophy of the basal ganglia and cerebellum - Follow-up and pathology
van der Knaap, M. S.; Linnankivi, T.; Paetau, A.; Feigenbaum, A.; Wakusawa, K.; Haginoya, K. & Kohler, W. et al. (2007)
Neurology, 69(2) pp. 166-171. DOI: https://doi.org/10.1212/01.wnl.0000265592.74483.a6
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2007 | Journal Article | Letter Note
Late onset vanishing white matter disease
Riecker, A.; Naegele, T.; Henneke, M. & Schoels, L. (2007)
Journal of Neurology, 254(4) pp. 544-545. DOI: https://doi.org/10.1007/s00415-006-0306-9
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2008 | Journal Article |
GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease
Henneke, M.; Combes, P.; Diekmann, S.; Bertini, E.; Brockmann, K.; Burlina, A. P. & Kaiser, J. et al. (2008)
Neurology,(70) pp. 758-754.
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2009 | Journal Article | Research Paper |
RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection
Henneke, M.; Diekmann, S.; Ohlenbusch, A. ; Kaiser, J.; Engelbrecht, V.; Kohlschuetter, A. & Kraetzner, R. et al. (2009)
Nature Genetics, 41(7) pp. 773-775. DOI: https://doi.org/10.1038/ng.398
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2010 | Conference Abstract
RNASET2 deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection
Henneke, M. & Gärtner, J. (2010)
European Journal of Pediatrics, 169(3)
New york: Springer.
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2010 | Conference Abstract
RNASET2-DEFICIENT CYSTIC LEUKOENCEPHALOPATHY IS A NEW LYSOSOMAL DISORDER
Henneke, M.; Diekmann, S.; Haud, N.; Alia, A.; Hurlstone, A. & Gaertner, J. (2010)
Journal of Inherited Metabolic Disease, 33
Dordrecht: Springer.
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2010 | Journal Article | Research Paper |
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, B. C. & Gärtner, J. (2010)
European Journal of Human Genetics, 18(9) pp. 985-992. DOI: https://doi.org/10.1038/ejhg.2010.61
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2010 | Journal Article | Research Paper
In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency
Henneke, M.; Dreha-Kulaczewski, S. F. ; Brockmann, K. ; van der Graaf, M.; Willemsen, M. A.; Engelke, U. & Dechent, P. et al. (2010)
NMR in Biomedicine, 23(5) pp. 441-445. DOI: https://doi.org/10.1002/nbm.1480
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2011 | Journal Article | Research Paper
rnaset2 mutant zebrafish model familial cystic leukoencephalopathy and reveal a role for RNase T2 in degrading ribosomal RNA
Haud, N.; Kara, F.; Diekmann, S.; Henneke, M.; Willer, J. R.; Hillwig, M. S. & Gregg, R. G. et al. (2011)
Proceedings of the National Academy of Sciences, 108(3) pp. 1099-1103. DOI: https://doi.org/10.1073/pnas.1009811107
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2012 | Journal Article | Research Paper
Assessment of myelination in hypomyelinating disorders by quantitative MRI
Dreha-Kulaczewski, S. F. ; Brockmann, K. ; Henneke, M.; Dechent, P. ; Wilken, B.; Gärtner, J. & Helms, G. (2012)
Journal of Magnetic Resonance Imaging, 36(6) pp. 1329-1338. DOI: https://doi.org/10.1002/jmri.23774
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2013 | Journal Article
Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation
Buchert, R.; Uebe, S.; Radwan, F.; Tawamie, H.; Issa, S.; Shimazaki, H. & Henneke, M. et al. (2013)
European Journal of Medical Genetics, 56(11) pp. 599-602. DOI: https://doi.org/10.1016/j.ejmg.2013.09.010
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2013 | Journal Article | Research Paper
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. (2013)
Journal of Medical Genetics, 50(11) pp. 772-775. DOI: https://doi.org/10.1136/jmedgenet-2013-101752
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2014 | Journal Article
Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder
Nishri, D.; Edvardson, S.; Lev, D.; Leshinsky-Silver, E.; Ben-Sira, L.; Henneke, M. & Lerman-Sagie, T. et al. (2014)
European Journal of Paediatric Neurology, 18(4) pp. 495-501. DOI: https://doi.org/10.1016/j.ejpn.2014.03.009
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