Hübner, Christine

[["dc.bibliographiccitation.firstpage","1043"],["dc.bibliographiccitation.issue","10"],["dc.bibliographiccitation.journal","Pediatric Research"],["dc.bibliographiccitation.lastpage","1043"],["dc.bibliographiccitation.volume","20"],["dc.contributor.author","Kohlschütter, A"],["dc.contributor.author","Hübner, C"],["dc.contributor.author","Gärtner, Jutta"],["dc.date.accessioned","2022-03-01T11:44:00Z"],["dc.date.available","2022-03-01T11:44:00Z"],["dc.date.issued","1986"],["dc.identifier.doi","10.1203/00006450-198610000-00113"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/102895"],["dc.notes.intern","DOI-Import GROB-531"],["dc.relation.eissn","1530-0447"],["dc.relation.issn","0031-3998"],["dc.title","59 Low Plasma Membrane Fluidity in Juvenile Neuronal Ceroid Lipofuscinosis (NCL) Lymphocytes"],["dc.type","journal_article"],["dc.type.internalPublication","unknown"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1411"],["dc.bibliographiccitation.issue","8"],["dc.bibliographiccitation.journal","Neurology"],["dc.bibliographiccitation.lastpage","1416"],["dc.bibliographiccitation.volume","64"],["dc.contributor.author","Henneke, M."],["dc.contributor.author","Preuss, N."],["dc.contributor.author","Engelbrecht, V."],["dc.contributor.author","Aksu, F."],["dc.contributor.author","Bertini, E."],["dc.contributor.author","Bibat, G."],["dc.contributor.author","Brockmann, K."],["dc.contributor.author","Hubner, C."],["dc.contributor.author","Mayer, M."],["dc.contributor.author","Mejaski-Bosnjak, V."],["dc.contributor.author","Gärtner, J."],["dc.date.accessioned","2022-03-01T11:44:03Z"],["dc.date.available","2022-03-01T11:44:03Z"],["dc.date.issued","2005"],["dc.description.abstract","Objective: To describe a distinctive syndrome of nonprogressive encephalopathy, normo- or microcephaly, and early onset of severe psychomotor impairment in 15 white patients, including two siblings and two first cousins. Methods and Results: MRI revealed bilateral cysts in the anterior part of the temporal lobe and white matter abnormalities with pericystic abnormal myelination and symmetric lesions in frontal and occipital periventricular regions. None of the usual inborn errors of metabolism/ infectious diseases associated with leukoencephalopathy and bilateral anterior temporal lobe cysts were detected. Conclusions: These patients' clinical signs and cranial MRI abnormalities are strikingly similar and may represent a distinctive disease with autosomal-recessive inheritance: cystic leukoencephalopathy without megalencephaly."],["dc.identifier.doi","10.1212/01.WNL.0000158472.82823.01"],["dc.identifier.gro","3143863"],["dc.identifier.isi","000228660600019"],["dc.identifier.pmid","15851732"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/102915"],["dc.language.iso","en"],["dc.notes.intern","DOI-Import GROB-531"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","PUB_WoS_Import"],["dc.relation.eissn","1526-632X"],["dc.title","Cystic leukoencephalopathy without megalencephaly: A distinct disease entity in 15 children"],["dc.type","journal_article"],["dc.type.internalPublication","unknown"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","251"],["dc.bibliographiccitation.issue","2"],["dc.bibliographiccitation.journal","American journal of human genetics"],["dc.bibliographiccitation.lastpage","260"],["dc.bibliographiccitation.volume","75"],["dc.contributor.author","Uhlenberg, B."],["dc.contributor.author","Schuelke, Markus"],["dc.contributor.author","Ruschendorf, F"],["dc.contributor.author","Ruf, N"],["dc.contributor.author","Kaindl, A. M."],["dc.contributor.author","Henneke, Marco"],["dc.contributor.author","Thiele, Holger"],["dc.contributor.author","Stoltenburg-Didinger, G"],["dc.contributor.author","Aksu, F."],["dc.contributor.author","Topaloglu, H."],["dc.contributor.author","Nürnberg, Peter"],["dc.contributor.author","Hübner, Christine"],["dc.contributor.author","Weschke, B"],["dc.contributor.author","Gärtner, Jutta"],["dc.date.accessioned","2017-09-07T11:43:19Z"],["dc.date.available","2017-09-07T11:43:19Z"],["dc.date.issued","2004"],["dc.description.abstract","The hypomyelinating leukodystrophies X-linked Pelizaeus-Merzbacher disease (PMD) and Pelizaeus-Merzbacher like disease (PMLD) are characterized by nystagmus, progressive spasticity, and ataxia. In a consanguineous family with PMLD, we performed a genomewide linkage scan using the GeneChip Mapping EA 10K Array (Affymetrix) and detected a single gene locus on chromosome 1q41-q42. This region harbors the GJA12 gene, which encodes gap junction protein alpha12 (or connexin 46.6). Gap junction proteins assemble into intercellular channels through which signaling ions and small molecules are exchanged. GJA12 is highly expressed in oligodendrocytes, and, therefore, it serves as an excellent candidate for hypomyelination in PMLD. In three of six families with PMLD, we detected five different GJA12 mutations, including missense, nonsense, and frameshift mutations. We thereby confirm previous assumptions that PMLD is genetically heterogeneous. Although the murine Gja12 ortholog is not expressed in sciatic nerve, we did detect GJA12 transcripts in human sciatic and sural nerve tissue by reverse-transcriptase polymerase chain reaction. These results are in accordance with the electrophysiological finding of reduced motor and sensory nerve conduction velocities in patients with PMLD, which argues for a demyelinating neuropathy. In this study, we demonstrate that GJA12 plays a key role in central myelination and is involved in peripheral myelination in humans."],["dc.identifier.doi","10.1086/422763"],["dc.identifier.gro","3143959"],["dc.identifier.isi","000222702000009"],["dc.identifier.pmid","15192806"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/1530"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Univ Chicago Press"],["dc.relation.issn","0002-9297"],["dc.title","Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]