Schiller, Stina

[["dc.bibliographiccitation.firstpage","145"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Journal of Inherited Metabolic Disease"],["dc.bibliographiccitation.lastpage","155"],["dc.bibliographiccitation.volume","43"],["dc.contributor.author","Schiller, Stina"],["dc.contributor.author","Rosewich, Hendrik"],["dc.contributor.author","Grünewald, Stephanie"],["dc.contributor.author","Gärtner, Jutta"],["dc.date.accessioned","2021-04-14T08:27:49Z"],["dc.date.available","2021-04-14T08:27:49Z"],["dc.date.issued","2019"],["dc.description.abstract","Abstract The development and organisation of the human brain start in the embryonic stage and is a highly complex orchestrated process. It depends on series of cellular mechanisms that are precisely regulated by multiple proteins, signalling pathways and non‐protein‐coding genes. A crucial process during cerebral cortex development is the migration of nascent neuronal cells to their appropriate positions and their associated differentiation into layer‐specific neurons. Neuronal migration defects (NMD) comprise a heterogeneous group of neurodevelopmental disorders including monogenetic disorders and residual syndromes due to damaging factors during prenatal development like infections, maternal diabetes mellitus or phenylketonuria, trauma, and drug use. Multifactorial causes are also possible. Classification into lissencephaly, polymicrogyria, schizencephaly, and neuronal heterotopia is based on the visible morphologic cortex anomalies. Characteristic clinical features of NMDs are severe psychomotor developmental delay, severe intellectual disability, intractable epilepsy, and dysmorphisms. Neurometabolic disorders only form a small subgroup within the large group of NMDs. The prototypes are peroxisomal biogenesis disorders, peroxisomal ß‐oxidation defects and congenital disorders of O‐glycosylation. The rapid evolution of biotechnology has resulted in an ongoing identification of metabolic and non‐metabolic disease genes for NMDs. Nevertheless, we are far away from understanding the specific role of cortical genes and metabolites on spatial and temporal regulation of human cortex development and associated malformations. This limited understanding of the pathogenesis hinders the attempt for therapeutic approaches. In this article, we provide an overview of the most important cortical malformations and potential underlying neurometabolic disorders."],["dc.identifier.doi","10.1002/jimd.12194"],["dc.identifier.eissn","1573-2665"],["dc.identifier.issn","0141-8955"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/82413"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-399"],["dc.publisher","John Wiley \\u0026 Sons, Inc."],["dc.relation.eissn","1573-2665"],["dc.relation.issn","0141-8955"],["dc.rights","This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited."],["dc.title","Inborn errors of metabolism leading to neuronal migration defects"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","233"],["dc.bibliographiccitation.issue","04"],["dc.bibliographiccitation.journal","Neuropediatrics"],["dc.bibliographiccitation.lastpage","241"],["dc.bibliographiccitation.volume","52"],["dc.contributor.author","Ludwig, Hans C."],["dc.contributor.author","Bock, Hans C."],["dc.contributor.author","Gärtner, Jutta"],["dc.contributor.author","Schiller, Stina"],["dc.contributor.author","Frahm, Jens"],["dc.contributor.author","Dreha-Kulaczewski, Steffi"],["dc.date.accessioned","2021-08-12T07:45:08Z"],["dc.date.available","2021-08-12T07:45:08Z"],["dc.date.issued","2021"],["dc.description.abstract","Abstract New experimental and clinical findings question the historic view of hydrocephalus and its 100-year-old classification. In particular, real-time magnetic resonance imaging (MRI) evaluation of cerebrospinal fluid (CSF) flow and detailed insights into brain water regulation on the molecular scale indicate the existence of at least three main mechanisms that determine the dynamics of neurofluids: (1) inspiration is a major driving force; (2) adequate filling of brain ventricles by balanced CSF upsurge is sensed by cilia; and (3) the perivascular glial network connects the ependymal surface to the pericapillary Virchow–Robin spaces. Hitherto, these aspects have not been considered a common physiologic framework, improving knowledge and therapy for severe disorders of normal-pressure and posthemorrhagic hydrocephalus, spontaneous intracranial hypotension, and spaceflight disease."],["dc.description.abstract","Abstract New experimental and clinical findings question the historic view of hydrocephalus and its 100-year-old classification. In particular, real-time magnetic resonance imaging (MRI) evaluation of cerebrospinal fluid (CSF) flow and detailed insights into brain water regulation on the molecular scale indicate the existence of at least three main mechanisms that determine the dynamics of neurofluids: (1) inspiration is a major driving force; (2) adequate filling of brain ventricles by balanced CSF upsurge is sensed by cilia; and (3) the perivascular glial network connects the ependymal surface to the pericapillary Virchow–Robin spaces. Hitherto, these aspects have not been considered a common physiologic framework, improving knowledge and therapy for severe disorders of normal-pressure and posthemorrhagic hydrocephalus, spontaneous intracranial hypotension, and spaceflight disease."],["dc.identifier.doi","10.1055/s-0041-1731981"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/88375"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-448"],["dc.relation.eissn","1439-1899"],["dc.relation.issn","0174-304X"],["dc.title","Hydrocephalus Revisited: New Insights into Dynamics of Neurofluids on Macro- and Microscales"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","32"],["dc.bibliographiccitation.issue","12"],["dc.bibliographiccitation.journal","DNP - Der Neurologe und Psychiater"],["dc.bibliographiccitation.lastpage","40"],["dc.bibliographiccitation.volume","17"],["dc.contributor.author","Schiller, Stina"],["dc.contributor.author","Stark, Wiebke"],["dc.contributor.author","Gärtner, Jutta"],["dc.date.accessioned","2017-11-28T09:52:30Z"],["dc.date.available","2017-11-28T09:52:30Z"],["dc.date.issued","2016"],["dc.description.abstract","Die Multiple Sklerose gehört zu den häufigsten neurologischen Erkrankungen des jungen Erwachsenenalters. Bis zu 5 % der Patienten erkranken jedoch bereits vor ihrem 16. Lebensjahr. Ätiologie und Pathogenese entsprechen mit hoher Wahrscheinlichkeit der adulten Form, dennoch stellt die pädiatrische MS aufgrund des frühen Erkrankungsbeginns für Patienten, Angehörige und Ärzte eine Herausforderung dar."],["dc.identifier.doi","10.1007/s15202-016-1061-0"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/10572"],["dc.language.iso","de"],["dc.notes.status","final"],["dc.relation.eissn","2196-6427"],["dc.relation.issn","1616-2455"],["dc.title","Was bei der pädiatrischen multiplen Sklerose zu beachten ist"],["dc.type","journal_article"],["dc.type.internalPublication","unknown"],["dc.type.peerReviewed","unknown"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1288"],["dc.bibliographiccitation.issue","6"],["dc.bibliographiccitation.journal","Journal of Inherited Metabolic Disease"],["dc.bibliographiccitation.lastpage","1297"],["dc.bibliographiccitation.volume","43"],["dc.contributor.author","Schlotawa, Lars"],["dc.contributor.author","Preiskorn, Joana"],["dc.contributor.author","Ahrens‐Nicklas, Rebecca"],["dc.contributor.author","Schiller, Stina"],["dc.contributor.author","Adang, Laura A."],["dc.contributor.author","Gärtner, Jutta"],["dc.contributor.author","Friede, Tim"],["dc.date.accessioned","2021-04-14T08:24:54Z"],["dc.date.available","2021-04-14T08:24:54Z"],["dc.date.issued","2020"],["dc.description.abstract","Abstract Multiple Sulfatase Deficiency (MSD, MIM#272200) is an ultra‐rare lysosomal storage disorder arising from mutations in the SUMF1 gene, which encodes the formylglycine‐generating enzyme (FGE). FGE is necessary for the activation of sulfatases, a family of enzymes that are involved in the degradation of sulfated substrates such as glycosaminoglycans and sulfolipids. SUMF1 mutations lead to functionally impaired FGE and individuals with MSD demonstrate clinical signs of single sulfatase deficiencies, including metachromatic leukodystrophy (MLD) and several mucopolysaccharidosis (MPS) subtypes. Comprehensive information related to the natural history of MSD is missing. We completed a systematic literature review and a meta‐analysis on data from published cases reporting on MSD. As available from these reports, we extracted clinical, genetic, biochemical, and brain imaging information. We identified 75 publications with data on 143 MSD patients with a total of 53 unique SUMF1 mutations. The mean survival was 13 years (95% CI 9.8‐16.2 years). Seventy‐five clinical signs and 11 key clusters of signs were identified. The most frequently affected organs systems were the nervous, skeletal, and integumentary systems. The most frequent MRI features were abnormal myelination and cerebral atrophy. Individuals with later onset MSD signs and survived longer than those with signs at birth. Less severe mutations, low disease burden and achievement of independent walking positively correlated with longer survival. Despite the limitations of our approach, we were able to define clinical characteristics and disease outcomes in MSD. This work will provide the foundation of natural disease history data needed for future clinical trial design."],["dc.description.sponsorship","Deutsche Forschungsgemeinschaft http://dx.doi.org/10.13039/501100001659"],["dc.description.sponsorship","Lower Saxony Ministry of Science and Culture http://dx.doi.org/10.13039/501100010570"],["dc.identifier.doi","10.1002/jimd.12282"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/81460"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-399"],["dc.publisher","John Wiley \\u0026 Sons, Inc."],["dc.relation.eissn","1573-2665"],["dc.relation.issn","0141-8955"],["dc.rights","This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made."],["dc.title","A systematic review and meta‐analysis of published cases reveals the natural disease history in multiple sulfatase deficiency"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","bio049239"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","Biology Open"],["dc.bibliographiccitation.volume","9"],["dc.contributor.author","Weber, Thomas"],["dc.contributor.author","Schlotawa, Lars"],["dc.contributor.author","Dosch, Roland"],["dc.contributor.author","Hamilton, Noémie"],["dc.contributor.author","Kaiser, Jens"],["dc.contributor.author","Schiller, Stina"],["dc.contributor.author","Wenske, Britta"],["dc.contributor.author","Gärtner, Jutta"],["dc.contributor.author","Henneke, Marco"],["dc.date.accessioned","2021-04-14T08:26:30Z"],["dc.date.available","2021-04-14T08:26:30Z"],["dc.date.issued","2020"],["dc.identifier.doi","10.1242/bio.049239"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/17399"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/81968"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-399"],["dc.notes.intern","Merged from goescholar"],["dc.relation.eissn","2046-6390"],["dc.rights","Goescholar"],["dc.rights.uri","https://goescholar.uni-goettingen.de/licenses"],["dc.title","Zebrafish disease model of human RNASET2-deficient cystic leukoencephalopathy displays abnormalities in early microglia"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","211"],["dc.bibliographiccitation.issue","04"],["dc.bibliographiccitation.journal","Neuropediatrics"],["dc.bibliographiccitation.lastpage","218"],["dc.bibliographiccitation.volume","50"],["dc.contributor.author","Schiller, Stina"],["dc.contributor.author","Henneke, Marco"],["dc.contributor.author","Gärtner, Jutta"],["dc.date.accessioned","2020-12-10T18:12:18Z"],["dc.date.available","2020-12-10T18:12:18Z"],["dc.date.issued","2019"],["dc.identifier.doi","10.1055/s-0039-1685529"],["dc.identifier.eissn","1439-1899"],["dc.identifier.issn","0174-304X"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/74318"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-354"],["dc.title","Opening New Horizons in the Treatment of Childhood Onset Leukodystrophies"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]