Moers, Arpad von

[["dc.bibliographiccitation.firstpage","210"],["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","NERVENHEILKUNDE"],["dc.bibliographiccitation.lastpage","215"],["dc.bibliographiccitation.volume","22"],["dc.contributor.author","von Moers, A."],["dc.contributor.author","Straub, Volker"],["dc.contributor.author","Wilichowski, E."],["dc.date.accessioned","2018-11-07T10:42:44Z"],["dc.date.available","2018-11-07T10:42:44Z"],["dc.date.issued","2003"],["dc.description.abstract","Congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal recessively inherited diseases. In the lost few years, in a number of CMDs the mutated genes and the gene products have been identified. It became clear that disturbance of glycosylation may be relevant in pathophysiology of CMD, particularly in severe forms with CNS involvement. Immunohistochemical staining of muscle is of decisive importance for further diagnostic planing. Based on the differentiation between laminin alpha2-positive and laminin alpha2-negative CMD as well as alpha-dystroglycan-positive and alpha-dystroglycan-negative CMD, further immunohistochemical and molecular genetic investigations will be performed. If the immunohistochemical staining reveals in a specific protein deficiency, such as decrease of collagen VI, a mutation analysis should be added. In the case of unspecific findings chromosomal regions may be excluded or more precisely defined by haplotyping. Magnetic resonance imaging (MRI), ophthalmological findings and neurophysiologlcal examinations may contribute important diagnostic hints."],["dc.identifier.isi","000183161400009"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/46873"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Schattauer Gmbh-verlag Medizin Naturwissenschaften"],["dc.relation.issn","0722-1541"],["dc.title","Diagnostics in congenital muscular dystrophies"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","518"],["dc.bibliographiccitation.issue","6"],["dc.bibliographiccitation.journal","Der Nervenarzt"],["dc.bibliographiccitation.lastpage","529"],["dc.bibliographiccitation.volume","91"],["dc.contributor.author","Ziegler, Andreas"],["dc.contributor.author","Wilichowski, Ekkehard"],["dc.contributor.author","Schara, Ulrike"],["dc.contributor.author","Hahn, Andreas"],["dc.contributor.author","Müller-Felber, Wolfgang"],["dc.contributor.author","Johannsen, Jessika"],["dc.contributor.author","von der Hagen, Maja"],["dc.contributor.author","von Moers, Arpad"],["dc.contributor.author","Stoltenburg, Corinna"],["dc.contributor.author","Saffari, Afshin"],["dc.contributor.author","Walter, Maggie C."],["dc.contributor.author","Husain, Ralf A."],["dc.contributor.author","Pechmann, Astrid"],["dc.contributor.author","Köhler, Cornelia"],["dc.contributor.author","Horber, Veronka"],["dc.contributor.author","Schwartz, Oliver"],["dc.contributor.author","Kirschner, Janbernd"],["dc.date.accessioned","2020-12-10T14:08:39Z"],["dc.date.available","2020-12-10T14:08:39Z"],["dc.date.issued","2020"],["dc.identifier.doi","10.1007/s00115-020-00919-8"],["dc.identifier.eissn","1433-0407"],["dc.identifier.issn","0028-2804"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/70509"],["dc.language.iso","de"],["dc.notes.intern","DOI Import GROB-354"],["dc.title","Handlungsempfehlungen zur Gentherapie der spinalen Muskelatrophie mit Onasemnogene Abeparvovec – AVXS-101"],["dc.title.alternative","Recommendations for gene therapy of spinal muscular atrophy with onasemnogene abeparvovec—AVXS-101. Consensus paper of the German representatives of the Society for Pediatric Neurology (GNP) and the German treatment centers with collaboration of the medical scientific advisory board of the German Society for Muscular Diseases (DGM)"],["dc.title.subtitle","Konsensuspapier der deutschen Vertretung der Gesellschaft für Neuropädiatrie (GNP) und der deutschen Behandlungszentren unter Mitwirkung des Medizinisch-Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke (DGM) e. V."],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","476"],["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","Annals of Neurology"],["dc.bibliographiccitation.lastpage","485"],["dc.bibliographiccitation.volume","50"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Wang, D."],["dc.contributor.author","Korenke, C. G."],["dc.contributor.author","von Moers, A."],["dc.contributor.author","Ho, Y. Y."],["dc.contributor.author","Pascual, J. M."],["dc.contributor.author","Kuang, K."],["dc.contributor.author","Yang, H."],["dc.contributor.author","Ma, L."],["dc.contributor.author","Kranz-Eble, P."],["dc.contributor.author","Fischbarg, J."],["dc.contributor.author","Hanefeld, Folker"],["dc.contributor.author","De Vivo, D. C."],["dc.date.accessioned","2018-11-07T08:33:30Z"],["dc.date.available","2018-11-07T08:33:30Z"],["dc.date.issued","2001"],["dc.description.abstract","Glut-l deficiency syndrome was first described in 1991 as a sporadic clinical condition, later shown to be the result of haploinsufficiency. We now report a family with Glut-l deficiency syndrome affecting 5 members over 3 generations. The syndrome behaves as an autosomal dominant condition. Affected family members manifested mild to severe seizures, developmental delay, ataxia, hypoglycorrhachia, and decreased erythrocyte 3-O-methyl-D-glucose uptake. Seizure frequency and severity were aggravated by fasting, and responded to a carbohydrate load. Glut-1 immunoreactivity in erythrocyte membranes was normal. A heterozygous R126H missense mutation was identified in the 3 patients available for testing, 2 brothers (Generation 3) and their mother (Generation 2). The sister and her father were clinically and genotypically normal. In vitro mutagenesis studies in Xenopus laevis oocytes demonstrated significant decreases in the transport of 3-O-methyl-D-glucose and dehydroascorbic acid. Xenopus oocyte membranes expressed high amounts of the R126H mutant Glut-1. Kinetic analysis indicated that replacement of arginine-126 by histidine in the mutant Glut-l resulted in a lower V-max. These studies demonstrate the pathogenicity of the R126H missense mutation and transmission of Glut-1 deficiency syndrome as an autosomal dominant trait."],["dc.identifier.doi","10.1002/ana.1222"],["dc.identifier.isi","000171402200009"],["dc.identifier.pmid","11603379"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/17590"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-liss"],["dc.relation.issn","0364-5134"],["dc.title","Autosomal dominant Glut-1 deficiency syndrome and familial epilepsy"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","215"],["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","Neuropediatrics"],["dc.bibliographiccitation.lastpage","218"],["dc.bibliographiccitation.volume","34"],["dc.contributor.author","Blattner, R."],["dc.contributor.author","von Moers, A."],["dc.contributor.author","Leegwater, PAJ"],["dc.contributor.author","Hanefeld, Folker"],["dc.contributor.author","van der Knaap, M. S."],["dc.contributor.author","Kohler, W."],["dc.date.accessioned","2018-11-07T10:37:26Z"],["dc.date.available","2018-11-07T10:37:26Z"],["dc.date.issued","2003"],["dc.description.abstract","Background: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) was recently localized on chromosome 22q(tel) and 26 different mutations of the gene MLC1 have been found. We report three siblings of non-consanguineous parents who presented with characteristic features of MLC, but did not have MLC1 mutations. Methods: Clinical, laboratory and neuro-imaging findings of the siblings are described and similar patients with MLC are reviewed. Results: All three siblings suffered from ataxia, progressive severe tetraparesis, dysarthria, dysphagia and epilepsy. Generalized dystonia occurred in one patient. Mental deterioration progressed more slowly than motor deterioration. The youngest male was the most severely affected and died at the age of 23 years. The two older females are now 34 and 35 years old. Our patients are among the oldest described with this clinical entity. No mutation of the MLC1 gene was found in our siblings and linkage with the MLC1 locus was excluded. Conclusions: The genetic findings in our patients suggest at least a second gene locus for MLC."],["dc.identifier.isi","000185453800009"],["dc.identifier.pmid","12973664"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/45566"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Georg Thieme Verlag Kg"],["dc.relation.issn","0174-304X"],["dc.title","Clinical and genetic heterogeneity in megalencephalic leukoencephalopathy with subcortical cysts (MLC)"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","45"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Neuropediatrics"],["dc.bibliographiccitation.lastpage","49"],["dc.bibliographiccitation.volume","35"],["dc.contributor.author","Rostasy, Kevin"],["dc.contributor.author","Kolb, R."],["dc.contributor.author","Pohl, Daniela"],["dc.contributor.author","Mueller, H."],["dc.contributor.author","Fels, C."],["dc.contributor.author","von Moers, A."],["dc.contributor.author","Bergmann, M."],["dc.contributor.author","Hanefeld, Folker"],["dc.contributor.author","Pekrun, Arnulf"],["dc.contributor.author","Schulz-Schaeffer, Walter J."],["dc.date.accessioned","2018-11-07T10:51:32Z"],["dc.date.available","2018-11-07T10:51:32Z"],["dc.date.issued","2004"],["dc.description.abstract","Hemophagocytic lymphohistiocytosis is a rare and fatal disorder of early infancy, which affects predominantly the mononuclear phagocyte system and is characterized by the presence of fever, hepatosplenomegaly and cytopenia. Neurological symptoms can be extremely variable, ranging from irritability, and convulsions to focal neurological signs. They often develop during disease progression, but can also be the leading initial symptoms. Early diagnosis is mandatory, because new treatments, including bone marrow transplantation, appear to be promising. Here we present the clinical, neuroradiological and histopathological findings from two children with progressive CNS disease as the main clinical manifestation of hemophagocytic lymphohistiocytosis. Both children died and diagnosis was only obtained in retrospect after careful review of the histopathological material."],["dc.identifier.doi","10.1055/s-2004-815791"],["dc.identifier.isi","000220263800008"],["dc.identifier.pmid","15002052"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/48914"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Georg Thieme Verlag Kg"],["dc.relation.issn","0174-304X"],["dc.title","CNS disease as the main manifestation of hemophagocytic lymphohistiocytosis in two children"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","941"],["dc.bibliographiccitation.issue","8"],["dc.bibliographiccitation.journal","Epilepsia"],["dc.bibliographiccitation.lastpage","945"],["dc.bibliographiccitation.volume","43"],["dc.contributor.author","von Moers, A."],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Wang, D."],["dc.contributor.author","Korenke, C. G."],["dc.contributor.author","Huppke, Peter"],["dc.contributor.author","De Vivo, D. C."],["dc.contributor.author","Hanefeld, Folker"],["dc.date.accessioned","2018-11-07T10:12:47Z"],["dc.date.available","2018-11-07T10:12:47Z"],["dc.date.issued","2002"],["dc.description.abstract","Purpose: Glut-1 deficiency syndrome (Glut-1 DS) is caused by the deficiency of the major glucose transporter in cerebral microvessels. Methods: We performed pre- and postprandial EEG recordings in two unrelated children with Glut-1 DS with developmental delay and seizures predominantly in the morning before breakfast. Results: Extensive epileptiform discharges observed in the fasting state were improved markedly by food intake, as documented in EEG recordings 1 and 2 h after a meal. The ratio of cerebrospinal fluid glucose to blood glucose was decreased in both children. Glut-1 deficiency was confirmed by biochemical and molecular genetic investigations. Conclusions: Pre- and postprandial EEG recordings offer a simple screening test for Glut-1 DS."],["dc.identifier.doi","10.1046/j.1528-1157.2002.50401.x"],["dc.identifier.isi","000177383900024"],["dc.identifier.pmid","12181017"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/40304"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Blackwell Publishing Inc"],["dc.relation.issn","0013-9580"],["dc.title","EEG features of Glut-1 deficiency syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","384"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Orphanet Journal of Rare Diseases"],["dc.bibliographiccitation.volume","17"],["dc.contributor.author","Pechmann, Astrid"],["dc.contributor.author","Behrens, Max"],["dc.contributor.author","Dörnbrack, Katharina"],["dc.contributor.author","Tassoni, Adrian"],["dc.contributor.author","Wenzel, Franziska"],["dc.contributor.author","Stein, Sabine"],["dc.contributor.author","Vogt, Sibylle"],["dc.contributor.author","Zöller, Daniela"],["dc.contributor.author","Bernert, Günther"],["dc.contributor.author","Hagenacker, Tim"],["dc.contributor.author","Zobel, Joachim"],["dc.contributor.author","Hahn, Andreas"],["dc.contributor.author","von Moers, Arpad"],["dc.contributor.author","Wilichowski, Ekkehard"],["dc.contributor.authorgroup","SMArtCARE study group"],["dc.date.accessioned","2022-12-01T08:31:23Z"],["dc.date.available","2022-12-01T08:31:23Z"],["dc.date.issued","2022"],["dc.date.updated","2022-10-30T04:18:38Z"],["dc.description.abstract","Abstract\r\n \r\n Background\r\n The development and approval of disease modifying treatments have dramatically changed disease progression in patients with spinal muscular atrophy (SMA). Nusinersen was approved in Europe in 2017 for the treatment of SMA patients irrespective of age and disease severity. Most data on therapeutic efficacy are available for the infantile-onset SMA. For patients with SMA type 2 and type 3, there is still a lack of sufficient evidence and long-term experience for nusinersen treatment. Here, we report data from the SMArtCARE registry of non-ambulant children with SMA type 2 and typen 3 under nusinersen treatment with a follow-up period of up to 38 months.\r\n \r\n \r\n Methods\r\n SMArtCARE is a disease-specific registry with data on patients with SMA irrespective of age, treatment regime or disease severity. Data are collected during routine patient visits as real-world outcome data. This analysis included all non-ambulant patients with SMA type 2 or 3 below 18 years of age before initiation of treatment. Primary outcomes were changes in motor function evaluated with the Hammersmith Functional Motor Scale Expanded (HFMSE) and the Revised Upper Limb Module (RULM).\r\n \r\n \r\n Results\r\n Data from 256 non-ambulant, pediatric patients with SMA were included in the data analysis. Improvements in motor function were more prominent in upper limb: 32.4% of patients experienced clinically meaningful improvements in RULM and 24.6% in HFMSE. 8.6% of patients gained a new motor milestone, whereas no motor milestones were lost. Only 4.3% of patients showed a clinically meaningful worsening in HFMSE and 1.2% in RULM score.\r\n \r\n \r\n Conclusion\r\n Our results demonstrate clinically meaningful improvements or stabilization of disease progression in non-ambulant, pediatric patients with SMA under nusinersen treatment. Changes were most evident in upper limb function and were observed continuously over the follow-up period. Our data confirm clinical trial data, while providing longer follow-up, an increased number of treated patients, and a wider range of age and disease severity."],["dc.description.sponsorship"," Biogen http://dx.doi.org/10.13039/100005614"],["dc.description.sponsorship","Novartis Gene Therapies"],["dc.description.sponsorship","Universitätsklinikum Freiburg"],["dc.identifier.citation","Orphanet Journal of Rare Diseases. 2022 Oct 23;17(1):384"],["dc.identifier.doi","10.1186/s13023-022-02547-8"],["dc.identifier.pii","2547"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/118161"],["dc.language.iso","en"],["dc.notes.intern","DOI-Import GROB-621"],["dc.relation.eissn","1750-1172"],["dc.rights","CC BY 4.0"],["dc.rights.holder","The Author(s)"],["dc.rights.uri","https://creativecommons.org/licenses/by/4.0"],["dc.subject","Spinal muscular atrophy"],["dc.subject","Nusinersen"],["dc.subject","Sitter"],["dc.subject","Later-onset"],["dc.subject","SMArtCARE"],["dc.title","Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]