Rosewich, Hendrik

[["dc.bibliographiccitation.firstpage","563"],["dc.bibliographiccitation.lastpage","569"],["dc.contributor.author","Gärtner, J."],["dc.contributor.author","Rosewich, H."],["dc.contributor.editor","vom Dahl, S."],["dc.contributor.editor","Lammert, F."],["dc.contributor.editor","Ullrich, K."],["dc.contributor.editor","Wendel, U."],["dc.date.accessioned","2018-02-21T15:14:10Z"],["dc.date.available","2018-02-21T15:14:10Z"],["dc.date.issued","2014"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/12406"],["dc.language.iso","de"],["dc.notes.status","final"],["dc.publisher","Springer"],["dc.publisher.place","Berlin"],["dc.relation.isbn","978-3-642-45187-4"],["dc.relation.isbn","978-3-642-45188-1"],["dc.relation.ispartof","Angeborene Stoffwechselkrankheiten bei Erwachsenen"],["dc.title","Peroxisomale Krankheiten"],["dc.type","book_chapter"],["dc.type.internalPublication","unknown"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.issue","8"],["dc.bibliographiccitation.journal","European journal of human genetics : EJHG"],["dc.bibliographiccitation.volume","23"],["dc.contributor.author","Rosewich, Hendrik"],["dc.contributor.author","Waterham, Hans"],["dc.contributor.author","Poll-The, Bwee Tien"],["dc.contributor.author","Ohlenbusch, Andreas"],["dc.contributor.author","Gärtner, Jutta"],["dc.date.accessioned","2018-02-21T15:04:57Z"],["dc.date.available","2018-02-21T15:04:57Z"],["dc.date.issued","2014-08"],["dc.identifier.doi","10.1038/ejhg.2014.250"],["dc.identifier.pmid","25407003"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/12405"],["dc.language.iso","en"],["dc.notes.status","final"],["dc.relation.eissn","1476-5438"],["dc.title","Clinical utility gene card for: Zellweger syndrome spectrum"],["dc.type","journal_article"],["dc.type.internalPublication","unknown"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","306"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","European Journal of Pediatrics"],["dc.bibliographiccitation.lastpage","310"],["dc.bibliographiccitation.volume","164"],["dc.contributor.author","Jerkic, S."],["dc.contributor.author","Rosewich, Hendrik"],["dc.contributor.author","Scharf, J. G."],["dc.contributor.author","Perske, Christina"],["dc.contributor.author","Fuzesi, L"],["dc.contributor.author","Wilichowski, E"],["dc.contributor.author","Gärtner, Jutta"],["dc.date.accessioned","2017-09-07T11:54:27Z"],["dc.date.available","2017-09-07T11:54:27Z"],["dc.date.issued","2005"],["dc.description.abstract","Familial adenomatous polyposis (FAP) is an autosomal dominant disorder that characteristically presents with colon cancer in early adult life. We describe a Pakistani FAP family in which two sons had an unusually early manifestation of colorectal cancer. The index patient presented at 11 years of age with abdominal pain, rectal bleeding and iron deficiency anaemia. Colonoscopy showed that the colon was carpeted with a myriad of polyps. Oesophago-gastric and duodenal endoscopy revealed that polyps had also developed in the duodenum. Multiple biopsies indicated neoplastic lesions. The patient underwent a proctocolectomy and endoscopic duodenal mucosectomy. The diagnosis of an adenocarcinoma of the colon and further adenomatous polyps with low-grade and high-grade dysplasia was confirmed by histology. Family screening including a blood test for anaemia and bowel examination revealed that his 12-year-old brother was also affected. Conclusion:Children with familial adenomatous polyposis are at risk for colon cancer and emphasise the need for early tumour recognition. Gastrointestinal symptoms in children should be thoroughly evaluated and standard screening for colonic polyposis should be performed in all individuals with a positive family history and/or known mutations in cancer-associated genes, particularly in children who are under 10 years of age."],["dc.identifier.doi","10.1007/s00431-004-1602-y"],["dc.identifier.gro","3143858"],["dc.identifier.isi","000228640700010"],["dc.identifier.pmid","15726412"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/1418"],["dc.language.iso","en"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","PUB_WoS_Import"],["dc.relation.issn","0340-6199"],["dc.title","Colorectal cancer in two pre-teenage siblings with familial adenomatous polyposis"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","869"],["dc.bibliographiccitation.issue","6"],["dc.bibliographiccitation.journal","Journal of Inherited Metabolic Disease"],["dc.bibliographiccitation.lastpage","876"],["dc.bibliographiccitation.volume","39"],["dc.contributor.author","Rosewich, Hendrik"],["dc.contributor.author","Dechent, Peter"],["dc.contributor.author","Krause, Cindy"],["dc.contributor.author","Ohlenbusch, Andreas"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Gärtner, Jutta"],["dc.date.accessioned","2017-09-07T11:44:32Z"],["dc.date.available","2017-09-07T11:44:32Z"],["dc.date.issued","2016"],["dc.description.abstract","Defects in the biogenesis of peroxisomes cause a clinically and genetically heterogeneous group of neurometabolic disorders, the Zellweger syndrome spectrum (ZSS). Diagnosis predominantly is based on characteristic clinical symptoms, a typical biochemical profile, as well as on identification of the molecular defect in any of the 12 known human PEX genes. The diagnostic workup can be hindered if the typical clinical symptoms are missing and predicting the clinical course of a given patient is almost unfeasible. As a safe and noninvasive method to analyze specific chemical compounds in localized brain regions, in vivo proton magnetic resonance spectroscopy (MRS) can provide an indication in this diagnostic process and may help predict the clinical course. However, to date, there are very few reports on this topic. In this study, we performed localized in vivo proton MRS without confounding contributions from T1- and T2-relaxation effects at 2 Tesla in a comparably large group of seven ZSS patients. Patients' absolute metabolite concentrations in cortical gray matter, white matter, and basal ganglia were assessed and compared with age-matched control values. Our results confirm and extend knowledge about in vivo MRS findings in ZSS patients. Besides affirmation of nonspecific reduction of N-acetylaspartate + N-acetylaspartylglutamate (tNAA) in combination with lipid accumulation as a diagnostic hint for this disease group, the amount of tNAA loss seems to reflect disease burden and may prove to be of prognostic value regarding the clinical course of an already diagnosed patient."],["dc.identifier.doi","10.1007/s10545-016-9965-6"],["dc.identifier.gro","3141599"],["dc.identifier.isi","000386383500011"],["dc.identifier.pmid","27488561"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/10"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Springer"],["dc.relation.eissn","1573-2665"],["dc.relation.issn","0141-8955"],["dc.title","Diagnostic and prognostic value of in vivo proton MR spectroscopy for Zellweger syndrome spectrum patients"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.journal","Neuropediatrics"],["dc.contributor.author","Nava, Esmeralda"],["dc.contributor.author","Hartmann, Britta"],["dc.contributor.author","Boxheimer, Larissa"],["dc.contributor.author","Capone Mori, Andrea"],["dc.contributor.author","Nuoffer, Jean-Marc"],["dc.contributor.author","Sargsyan, Yelena"],["dc.contributor.author","Thoms, Sven"],["dc.contributor.author","Rosewich, Hendrik"],["dc.contributor.author","Boltshauser, Eugen"],["dc.date.accessioned","2022-04-01T10:00:41Z"],["dc.date.available","2022-04-01T10:00:41Z"],["dc.date.issued","2022"],["dc.description.abstract","Abstract A 4-year-old boy presented with subacute onset of cerebellar ataxia. Neuroimaging revealed cerebellar atrophy. Metabolic screening tests aiming to detect potentially treatable ataxias showed an increased value (fourfold upper limit of normal) for phytanic acid and elevated very-long-chain fatty acid (VLCFA) ratios (C24:0/C22:0 and C26:0/C22:0), while absolute concentrations of VLCFA were normal. Genetic analysis identified biallelic variants in PEX10. Immunohistochemistry confirmed pathogenicity in the patients' cultured fibroblasts demonstrating peroxisomal mosaicism with a general catalase import deficiency as well as conspicuous peroxisome morphology as an expression of impaired peroxisomal function. We describe for the first time an elongated peroxisome morphology in a patient with PEX10-related cerebellar ataxia. A literature search yielded 14 similar patients from nine families with PEX10-related cerebellar ataxia, most of them presenting their first symptoms between 3 and 8 years of age. In 11/14 patients, the first and main symptom was cerebellar ataxia; in three patients, it was sensorineural hearing impairment. Finally, all 14 patients developed ataxia. Polyneuropathy (9/14) and cognitive impairment (9/14) were common associated findings. In 12/13 patients brain MRI showed cerebellar atrophy. Phytanic acid was elevated in 8/12 patients, while absolute concentrations of VLCFA levels were in normal limits in several patients. VLCFA ratios (C24:0/C22:0 and/or C26:0/C22:0), though, were elevated in 11/11 cases. We suggest including measurement of phytanic acid and VLCFA ratios in metabolic screening tests in unexplained autosomal recessive ataxias with cerebellar atrophy, especially when there is an early onset and symptoms are mild."],["dc.identifier.doi","10.1055/s-0041-1741383"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/105487"],["dc.language.iso","en"],["dc.notes.intern","DOI-Import GROB-530"],["dc.relation.eissn","1439-1899"],["dc.relation.issn","0174-304X"],["dc.title","How to Detect Isolated PEX10-Related Cerebellar Ataxia?"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","375"],["dc.bibliographiccitation.issue","2"],["dc.bibliographiccitation.journal","Journal of Cystic Fibrosis"],["dc.bibliographiccitation.lastpage","377"],["dc.bibliographiccitation.volume","21"],["dc.contributor.author","Lex, Christiane"],["dc.contributor.author","Minso, Rebecca"],["dc.contributor.author","Alfeis, Nadine"],["dc.contributor.author","Rosewich, Hendrik"],["dc.contributor.author","Schucht, Sylvia"],["dc.contributor.author","Tümmler, Burkhard"],["dc.date.accessioned","2022-09-01T09:49:39Z"],["dc.date.available","2022-09-01T09:49:39Z"],["dc.date.issued","2022"],["dc.identifier.doi","10.1016/j.jcf.2021.08.018"],["dc.identifier.pii","S156919932101359X"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/113490"],["dc.language.iso","en"],["dc.notes.intern","DOI-Import GROB-597"],["dc.relation.issn","1569-1993"],["dc.rights.uri","https://www.elsevier.com/tdm/userlicense/1.0/"],["dc.title","Clinical presentation and basic defect of the CFTR genotype p.Phe508del / p.Arg117His in a mother and her monozygous twin daughters"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","945"],["dc.bibliographiccitation.issue","11"],["dc.bibliographiccitation.journal","Neurology"],["dc.bibliographiccitation.lastpage","955"],["dc.bibliographiccitation.volume","82"],["dc.contributor.author","Rosewich, Hendrik"],["dc.contributor.author","Ohlenbusch, Andreas"],["dc.contributor.author","Huppke, Peter"],["dc.contributor.author","Schlotawa, Lars"],["dc.contributor.author","Baethmann, Martina"],["dc.contributor.author","Carrilho, Ines"],["dc.contributor.author","Fiori, Simona"],["dc.contributor.author","Lourenco, Charles Marques"],["dc.contributor.author","Sawyer, Sarah"],["dc.contributor.author","Steinfeld, Robert"],["dc.contributor.author","Gärtner, Jutta"],["dc.contributor.author","Brockmann, Knut"],["dc.date.accessioned","2017-09-07T11:46:24Z"],["dc.date.available","2017-09-07T11:46:24Z"],["dc.date.issued","2014"],["dc.description.abstract","Objective:We aimed to delineate the clinical and genetic spectrum of ATP1A3-related disorders and recognition of a potential genotype-phenotype correlation.Methods:We identified 16 new patients with alternating hemiplegia of childhood (AHC) and 3 new patients with rapid-onset dystonia-parkinsonism (RDP) and included these as well as the clinical and molecular findings of all previously reported 164 patients with mutation-positive AHC and RDP in our analyses.Results:Major clinical characteristics shared in common by AHC and RDP comprise a strikingly asymmetric, predominantly dystonic movement disorder with rostrocaudal gradient of involvement and physical, emotional, or chemical stressors as triggers. The clinical courses include an early-onset polyphasic for AHC, a later-onset mono- or biphasic for RDP, as well as intermediate forms. Meta-analysis of the 8 novel and 38 published ATP1A3 mutations shows that the ones affecting transmembrane and functional domains tend to be associated with AHC as the more severe phenotype. The majority of mutations are located in exons 8, 14, 17, and 18.Conclusion:AHC and RDP constitute clinical prototypes in a continuous phenotypic spectrum of ATP1A3-related disorders. Intermediate phenotypes combining criteria of both conditions are increasingly recognized. Efficient stepwise mutation analysis of the ATP1A3 gene may prioritize those exons where current state of knowledge indicates mutational clusters."],["dc.identifier.doi","10.1212/WNL.0000000000000212"],["dc.identifier.gro","3142165"],["dc.identifier.isi","000336262500012"],["dc.identifier.pmid","24523486"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/5255"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Lippincott Williams & Wilkins"],["dc.relation.eissn","1526-632X"],["dc.relation.issn","0028-3878"],["dc.title","The expanding clinical and genetic spectrum of ATP1A3-related disorders"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","210"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Journal of biological chemistry"],["dc.bibliographiccitation.lastpage","221"],["dc.bibliographiccitation.volume","287"],["dc.contributor.author","Hillebrand, Merle"],["dc.contributor.author","Gersting, Soren W."],["dc.contributor.author","Lotz-Havla, Amelie S."],["dc.contributor.author","Schaefer, Annika"],["dc.contributor.author","Rosewich, Hendrik"],["dc.contributor.author","Valerius, Oliver"],["dc.contributor.author","Muntau, Ania C."],["dc.contributor.author","Gärtner, Jutta"],["dc.date.accessioned","2017-09-07T11:49:01Z"],["dc.date.available","2017-09-07T11:49:01Z"],["dc.date.issued","2012"],["dc.description.abstract","The neurodegenerative disease X-linked adrenoleukodystrophy (X-ALD) is characterized by the abnormal accumulation of very long chain fatty acids. Mutations in the gene encoding the peroxisomal ATP-binding cassette half-transporter, adrenoleukodystrophy protein (ALDP), are the primary cause of X-ALD. To gain a better understanding of ALDP dysfunction, we searched for interaction partners of ALDP and identified binary interactions to proteins with functions in fatty acid synthesis (ACLY, FASN, and ACC) and activation (FATP4), constituting a thus far unknown fatty acid synthesis-transport machinery at the cytoplasmic side of the peroxisomal membrane. This machinery adds to the knowledge of the complex mechanisms of peroxisomal fatty acid metabolism at a molecular level and elucidates potential epigenetic mechanisms as regulatory processes in the pathogenesis and thus the clinical course of X-ALD."],["dc.identifier.doi","10.1074/jbc.M111.272732"],["dc.identifier.gro","3142592"],["dc.identifier.isi","000298682400022"],["dc.identifier.pmid","22045812"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/8959"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Amer Soc Biochemistry Molecular Biology Inc"],["dc.relation.issn","0021-9258"],["dc.title","Identification of a New Fatty Acid Synthesis-Transport Machinery at the Peroxisomal Membrane"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","27"],["dc.bibliographiccitation.issue","1-2"],["dc.bibliographiccitation.journal","Journal of Neuroimmunology"],["dc.bibliographiccitation.lastpage","33"],["dc.bibliographiccitation.volume","246"],["dc.contributor.author","Lescher, Juliane"],["dc.contributor.author","Paap, Franziska"],["dc.contributor.author","Schultz, Verena"],["dc.contributor.author","Redenbach, Laura"],["dc.contributor.author","Scheidt, Uta"],["dc.contributor.author","Rosewich, Hendrik"],["dc.contributor.author","Nessler, Stefan"],["dc.contributor.author","Fuchs, Eberhard"],["dc.contributor.author","Gärtner, Jutta"],["dc.contributor.author","Brueck, Wolfgang"],["dc.contributor.author","Junker, Andreas"],["dc.date.accessioned","2017-09-07T11:48:52Z"],["dc.date.available","2017-09-07T11:48:52Z"],["dc.date.issued","2012"],["dc.description.abstract","Here we demonstrate that miRNA regulation in marmoset (Callithrix jacchus) and C57/BL6 mouse EAE lesions largely resembles miRNA regulation in active human MS lesions. Detailed quantitative PCR analyses of the most up- and downregulated miRNAs of active human MS lesions in dissected lesions from marmoset EAE brains and inflamed spinal cords of EAE mice revealed that the conserved and highly regulated miRNAs, miRNA-155, miRNA-142-3p, miRNA-146a, miRNA-146b and miRNA-21, turned out to be similarly upregulated in marmoset and mouse EAE lesions. (C) 2012 Elsevier B.V. All rights reserved."],["dc.identifier.doi","10.1016/j.jneuroim.2012.02.012"],["dc.identifier.gro","3142535"],["dc.identifier.isi","000304026900004"],["dc.identifier.pmid","22445295"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/8897"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Elsevier Science Bv"],["dc.relation.issn","0165-5728"],["dc.title","MicroRNA regulation in experimental autoimmune encephalomyelitis in mice and marmosets resembles regulation in human multiple sclerosis lesions"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","171"],["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","Neuropediatrics"],["dc.bibliographiccitation.lastpage","180"],["dc.bibliographiccitation.volume","36"],["dc.contributor.author","Elleder, M."],["dc.contributor.author","Jerabkova, M."],["dc.contributor.author","Befekadu, A."],["dc.contributor.author","Hrebicek, M."],["dc.contributor.author","Berna, L."],["dc.contributor.author","Ledvinova, J."],["dc.contributor.author","Hulkova, H."],["dc.contributor.author","Rosewich, Hendrik"],["dc.contributor.author","Schymik, N."],["dc.contributor.author","Paton, B. C."],["dc.contributor.author","Harzer, K."],["dc.date.accessioned","2018-11-07T10:58:09Z"],["dc.date.available","2018-11-07T10:58:09Z"],["dc.date.issued","2005"],["dc.description.abstract","An infant presented with multifocal myoclonus and cyanotic hypoxemia immediately after birth, and severe feeding problems, a protein-losing enteropathy, massive ascites and grandmal epilepsy marked his rapid downhill course, with death at 17 weeks. At 2 weeks, brain MRI revealed grey matter heterotopias in the parieto-occipital regions suggestive of a cortical morphogenetic disorder. In cultured skin fibroblasts, lipid storage and reduced activities of ceramidase, galactosylceramide beta-galactosiclase and glucosylceramide P-glucosidase were evident. Autopsy disclosed generalised lysosomal lipid storage with macrophages and adrenal cortex prominently affected. The pattern of stored lipids in cultured fibroblasts and in dewaxed spleen tissue blocks was compatible with a diagnosis of prosaposin (pSap) deficiency (pSap-d). Neuropathologically, there was a pronounced generalised neurolysosomal storage combined with a severe depletion of cortical neurons and extreme paucity of myelin and oligodendroglia. This pathology, in particular the massive neuronal loss, differed from that in other neurolipidoses and could be explained by the reduced hydrolysis of multiple sphingolipids and the loss of pSap's neurotrophic function. The absence of immunostainable saposins on tissue sections and the presence of a homozygous c.1 A > T mutation in the prosaposin gene confirmed the diagnosis. PSap-d may be an underdiagnosed condition in infants with severe neurological and dystrophic signs starting immediately after birth."],["dc.identifier.doi","10.1055/s-2005-865608"],["dc.identifier.isi","000229875700001"],["dc.identifier.pmid","15944902"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/50415"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.relation.issn","0174-304X"],["dc.title","Prosaposin deficiency - A rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dspace.entity.type","Publication"]]