Gärtner, Jutta

[["dc.bibliographiccitation.firstpage","61"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","American journal of human genetics"],["dc.bibliographiccitation.lastpage","68"],["dc.bibliographiccitation.volume","90"],["dc.contributor.author","Huppke, Peter"],["dc.contributor.author","Brendel, Cornelia"],["dc.contributor.author","Kalscheuer, Vera"],["dc.contributor.author","Korenke, Georg Christoph"],["dc.contributor.author","Marquardt, Iris"],["dc.contributor.author","Freisinger, Peter"],["dc.contributor.author","Christodoulou, John"],["dc.contributor.author","Hillebrand, Merle"],["dc.contributor.author","Pitelet, Gaele"],["dc.contributor.author","Wilson, Callum"],["dc.contributor.author","Gruber-Sedlmayr, Ursula"],["dc.contributor.author","Ullmann, Reinhard"],["dc.contributor.author","Haas, Stefan"],["dc.contributor.author","Elpeleg, Orly"],["dc.contributor.author","Nürnberg, Gudrun"],["dc.contributor.author","Nürnberg, Peter"],["dc.contributor.author","Dad, Shzeena"],["dc.contributor.author","Moller, Lisbeth Birk"],["dc.contributor.author","Kaler, Stephen G."],["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","Low copper and ceruloplasmin in serum are the diagnostic hallmarks for Menkes disease, Wilson disease, and aceruloplasminemia. We report on five patients from four unrelated families with these biochemical findings who presented with a lethal autosomal-recessive syndrome of congenital cataracts, hearing loss, and severe developmental delay. Cerebral MRI showed pronounced cerebellar hypoplasia and hypomyelination. Homozygosity mapping was performed and displayed a region of commonality among three families at chromosome 3q25. Deep sequencing and conventional sequencing disclosed homozygous or compound heterozygous mutations for all affected subjects in SLC33A1 encoding a highly conserved acetylCoA transporter (AT-1) required for acetylation of multiple gangliosides and glycoproteins. The mutations were found to cause reduced or absent AT-1 expression and abnormal intracellular localization of the protein. We also showed that AT-1 knockdown in HepG2 cells leads to reduced ceruloplasmin secretion, indicating that the low copper in serum is due to reduced ceruloplasmin levels and is not a sign of copper deficiency. The severity of the phenotype implies an essential role of AT-1 in proper posttranslational modification of numerous proteins, without which normal lens and brain development is interrupted. Furthermore, AT-1 defects are a new and important differential diagnosis in patients with low copper and ceruloplasmin in serum."],["dc.identifier.doi","10.1016/j.ajhg.2011.11.030"],["dc.identifier.gro","3142590"],["dc.identifier.isi","000299409100005"],["dc.identifier.pmid","22243965"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/8957"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.relation.issn","0002-9297"],["dc.title","Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","89"],["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","Neuropädiatrie in Klinik und Praxis"],["dc.bibliographiccitation.lastpage","91"],["dc.bibliographiccitation.volume","10"],["dc.contributor.author","Müller-Wielsch, K."],["dc.contributor.author","Huppke, P."],["dc.contributor.author","Gärtner, J."],["dc.date.accessioned","2018-02-15T09:50:25Z"],["dc.date.available","2018-02-15T09:50:25Z"],["dc.date.issued","2011"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/12253"],["dc.language.iso","de"],["dc.notes.status","final"],["dc.relation.issn","1619-3873"],["dc.title","Entwicklungsverzögerung im Säuglingsalter durch alimentären Vitamin B12-Mangel."],["dc.type","journal_article"],["dc.type.internalPublication","unknown"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","10"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","European Journal of Paediatric Neurology"],["dc.bibliographiccitation.lastpage","16"],["dc.bibliographiccitation.volume","11"],["dc.contributor.author","Huppke, Peter"],["dc.contributor.author","Koehler, Karola"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Stettner, Georg M."],["dc.contributor.author","Gärtner, Jutta"],["dc.date.accessioned","2017-09-07T11:49:52Z"],["dc.date.available","2017-09-07T11:49:52Z"],["dc.date.issued","2007"],["dc.description.abstract","Introduction: Epilepsy is very frequent in Rett syndrome (RTT) patients and often difficult to treat. Because most cases of RTT are caused by mutations in the MECP2 gene it is reasonable to assume that convulsions are based on common pathogenetic mechanisms and thus should have a similar response to antiepileptic drugs. Purpose: To find the optimal treatment for epilepsy in RTT. Methods: We performed a retrospective study on 110 female patients with confirmed MECP2 mutations. Results: The median age was 10 years, 58% had a history of epilepsy and 55% received antiepileptic drugs (AEDs). Only sulthiame, carbamazepine and valproate were administered in an adequate frequency to allow statistical analysis. The best anticonvulsive results were seen in the RTT group that was treated with carbamazepine. Sulthiame was slightly less effective while valproate was significantly less effective. The rate of side effects was equivalent in all groups. In conclusion, carbamazepine should be recommended as first choice AED in RTT. If carbamazepine is not effective or not well tolerated sulthiame ought to be taken as second choice AED. (c) 2006 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved."],["dc.identifier.doi","10.1016/j.ejpn.2006.09.003"],["dc.identifier.gro","3143557"],["dc.identifier.isi","000244178200002"],["dc.identifier.pmid","17178248"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/1084"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Elsevier Sci Ltd"],["dc.relation.issn","1090-3798"],["dc.title","Treatment of epilepsy in Rett syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","74"],["dc.bibliographiccitation.journal","BMC Neurology"],["dc.bibliographiccitation.volume","16"],["dc.contributor.author","Kettwig, Matthias"],["dc.contributor.author","Elpeleg, Orly"],["dc.contributor.author","Wegener, Eike"],["dc.contributor.author","Dreha-Kulaczewski, Steffi F."],["dc.contributor.author","Henneke, Marco"],["dc.contributor.author","Gärtner, Jutta"],["dc.contributor.author","Huppke, Peter"],["dc.date.accessioned","2017-09-07T11:44:54Z"],["dc.date.available","2017-09-07T11:44:54Z"],["dc.date.issued","2016"],["dc.description.abstract","Background: Mutations in proteins involved in the glycosylphosphatidylinositol anchor biosynthesis and remodeling pathway are associated with autosomal recessive forms of intellectual disability. Recently mutations in the PGAP1 gene that codes for PGAP1, a protein localized in the endoplasmic reticulum responsible for the first step of the remodeling of glycosylphosphatidylinositol was linked to a disorder characterized by psychomotor retardation and facial dysmorphism. Whole exome sequencing (WES) was performed in siblings with severely delayed myelination and psychomotor retardation. Mutations in PGAP1 were confirmed by Sanger sequencing and RNA analysis. A literature search was performed to describe the emerging phenotype of PGAP1 related disease. Case presentation: WES resulted in the detection of two novel compound heterozygous mutations in PGAP1, one base pair insertion leading to a frame shift c.334_335InsA (p.A112fs) and a splice site mutation leading to exon skipping c.G1173C (p.L391L). A symptom not described in PGAP1 related disorder before but prominent in the siblings were recurrent apnea especially during sleep that persisted at least until age 2 years. Sequential cerebral MRI at age one and two year(s) respectively revealed frontal accentuated brain atrophy and significantly delayed myelination. Conclusion: We report siblings with two novel mutations in PGAP1. Other that the common symptoms related to PGAP1 mutations including non-progressive psychomotor retardation, neonatal feeding problems, microcephaly and brain atrophy these patients displayed severely delayed myelination and recurrent apneas thereby widing the clinical spectrum associated with such mutations."],["dc.identifier.doi","10.1186/s12883-016-0602-7"],["dc.identifier.gro","3141684"],["dc.identifier.isi","000376577000003"],["dc.identifier.pmid","27206732"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/13279"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/8872"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Biomed Central Ltd"],["dc.relation.issn","1471-2377"],["dc.rights","CC BY 4.0"],["dc.rights.uri","https://creativecommons.org/licenses/by/4.0"],["dc.title","Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review"],["dc.type","review"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.journal","Neurology"],["dc.bibliographiccitation.volume","78"],["dc.contributor.author","Balint, Bettina"],["dc.contributor.author","Haas, Juergen"],["dc.contributor.author","Schwarz, Alexander"],["dc.contributor.author","Fuerwentsches, Alexandra"],["dc.contributor.author","Ebinger, Friedrich"],["dc.contributor.author","Fritzsching, Benedikt"],["dc.contributor.author","Seidel, Ulrich"],["dc.contributor.author","Paul, Friedemann"],["dc.contributor.author","Huppke, Peter"],["dc.contributor.author","Gärtner, Jutta"],["dc.contributor.author","Wildemann, Brigitte"],["dc.date.accessioned","2018-11-07T09:11:32Z"],["dc.date.available","2018-11-07T09:11:32Z"],["dc.date.issued","2012"],["dc.identifier.isi","000303204801235"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/26742"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Lippincott Williams & Wilkins"],["dc.publisher.place","Philadelphia"],["dc.relation.eventlocation","New Orleans, LA"],["dc.relation.issn","0028-3878"],["dc.title","B Cells and Subsets in Pediatric-Onset Relapsing-Remitting Multiple Sclerosis: Similarities and Differences to Adult-Onset Disease"],["dc.type","conference_abstract"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","75"],["dc.bibliographiccitation.lastpage","85"],["dc.contributor.author","Gärtner, J."],["dc.contributor.author","Huppke, P."],["dc.contributor.editor","Schmidt, R."],["dc.contributor.editor","Hoffmann, F."],["dc.contributor.editor","Faiss, J."],["dc.contributor.editor","Köhler, W."],["dc.date.accessioned","2018-02-21T16:09:13Z"],["dc.date.available","2018-02-21T16:09:13Z"],["dc.date.issued","2015"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/12411"],["dc.language.iso","de"],["dc.notes.status","final"],["dc.publisher","Urban & Fischer/Elsevier"],["dc.relation.isbn","978-3-437-22083-8"],["dc.relation.ispartof","Multiple Sklerose"],["dc.title","Pädiatrische Multiple Sklerose"],["dc.type","book_chapter"],["dc.type.internalPublication","unknown"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","732"],["dc.bibliographiccitation.issue","9"],["dc.bibliographiccitation.journal","Journal of Child Neurology"],["dc.bibliographiccitation.lastpage","736"],["dc.bibliographiccitation.volume","20"],["dc.contributor.author","Huppke, Peter"],["dc.contributor.author","Gärtner, Jutta"],["dc.date.accessioned","2018-04-23T11:47:34Z"],["dc.date.available","2018-04-23T11:47:34Z"],["dc.date.issued","2005"],["dc.description.abstract","In 1999, mutations in the MECP2 gene were identified as the primary cause of Rett syndrome. MECP2 mutations can be found in 70% to 80% of all clinically defined Rett syndrome cases; in classic Rett syndrome, this frequency is even higher. In most cases, missense and nonsense mutations affecting functionally important domains can be found. Additionally, a hot spot for small deletions has been defined, and several gross rearrangements have also been described. Among female individuals with Rett syndrome, the spectrum of clinical phenotypes is broad, but most fulfill the diagnostic criteria. In contrast, male individuals with mutations in the MECP2 gene are rare, and only a minority have clinical symptoms resembling Rett syndrome. (J Child Neurol 2005;20:732—736)."],["dc.identifier.doi","10.1177/08830738050200090601"],["dc.identifier.gro","3142231"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/13354"],["dc.language.iso","en"],["dc.notes.intern","lifescience updates Crossref Import"],["dc.notes.status","final"],["dc.relation.issn","0883-0738"],["dc.title","Molecular Diagnosis of Rett Syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","unknown"],["dc.type.peerReviewed","no"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","112958"],["dc.bibliographiccitation.journal","Experimental Neurology"],["dc.bibliographiccitation.volume","320"],["dc.contributor.author","Huppke, Peter"],["dc.contributor.author","Wegener, Eike"],["dc.contributor.author","Gilley, Jonathan"],["dc.contributor.author","Angeletti, Carlo"],["dc.contributor.author","Kurth, Ingo"],["dc.contributor.author","Drenth, Joost P.H."],["dc.contributor.author","Stadelmann, Christine"],["dc.contributor.author","Barrantes-Freer, Alonso"],["dc.contributor.author","Brück, Wolfgang"],["dc.contributor.author","Thiele, Holger"],["dc.contributor.author","Nürnberg, Peter"],["dc.contributor.author","Gärtner, Jutta"],["dc.contributor.author","Orsomando, Giuseppe"],["dc.contributor.author","Coleman, Michael P."],["dc.date.accessioned","2020-12-10T14:24:01Z"],["dc.date.available","2020-12-10T14:24:01Z"],["dc.date.issued","2019"],["dc.identifier.doi","10.1016/j.expneurol.2019.112958"],["dc.identifier.issn","0014-4886"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/72107"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-354"],["dc.title","Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","786"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","Epilepsia"],["dc.bibliographiccitation.lastpage","789"],["dc.bibliographiccitation.volume","46"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Huppke, Peter"],["dc.contributor.author","Karenfort, M"],["dc.contributor.author","Gärtner, Jutta"],["dc.contributor.author","Hoger, C."],["dc.date.accessioned","2017-09-07T11:54:27Z"],["dc.date.available","2017-09-07T11:54:27Z"],["dc.date.issued","2005"],["dc.description.abstract","Purpose: To describe a previously unreported type of self-induced pattern-sensitive seizures in a child. Methods: Evaluation of clinical and EEG features. Results: An 18-month-old boy was initially seen with series of short focal tonic seizures self-induced by gazing intermittently at round objects. Self-induction of these seizures had an obvious relieving effect on the child. Covering the round object foiled further seizures but resulted in a tantrum. Later in the course, an increasing variety of patterns proved to be capable of inducing seizures, which occurred with increasing frequency and severity, including secondarily generalized tonic-clonic seizures. Interictal EEG revealed multifocal sharp-and-slow-waves. Ictal EEG showed no abnormalities during short focal seizures and rapidly generalizing epileptic discharges during a secondarily generalized seizure. No photosensitivity was noted. Motor and mental development of the boy stagnated over a period of 2 years. Behavioral therapy as well as medical treatment, consisting of various combinations of antiepileptic drugs (AEDs) together with a selective serotonin-reuptake inhibitor, were of merely transient benefit. Only combined pharmacotherapy, including valproate, sulthiame, and clobazam, resulted in seizure control at age 3 years 9 months. Conclusions: Visual capture of geometric patterns other than stripes or gratings may trigger focal seizures with secondary generalization. Synchronization of cortical neurons responsible for pattern recognition may account for epileptogenesis in this child."],["dc.identifier.doi","10.1111/j.1528-1167.2005.54004.x"],["dc.identifier.gro","3143857"],["dc.identifier.isi","000228560000027"],["dc.identifier.pmid","15857450"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/1417"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Blackwell Publishing Inc"],["dc.relation.issn","0013-9580"],["dc.title","Visually self-induced seizures sensitive to round objects"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.journal","Multiple Sclerosis Journal"],["dc.bibliographiccitation.volume","22"],["dc.contributor.author","Huppke, Peter"],["dc.contributor.author","Hummel, H. M."],["dc.contributor.author","Stark, W."],["dc.contributor.author","Gaertner, J."],["dc.date.accessioned","2018-11-07T10:08:46Z"],["dc.date.available","2018-11-07T10:08:46Z"],["dc.date.issued","2016"],["dc.description.sponsorship","Bayer Vital; Biogen Idec; Novartis; Biogen"],["dc.format.extent","99"],["dc.identifier.isi","000383267201025"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/39532"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Sage Publications Ltd"],["dc.publisher.place","London"],["dc.relation.eventlocation","London, ENGLAND"],["dc.relation.issn","1477-0970"],["dc.relation.issn","1352-4585"],["dc.title","Fingolimod in active pediatric onset multiple sclerosis"],["dc.type","conference_abstract"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]