Schnizer, Tuuli Johanna

[["dc.bibliographiccitation.firstpage","72"],["dc.bibliographiccitation.journal","Brain"],["dc.bibliographiccitation.lastpage","87"],["dc.bibliographiccitation.volume","135"],["dc.contributor.author","Fledrich, Robert"],["dc.contributor.author","Schlotter-Weigel, Beate"],["dc.contributor.author","Schnizer, Tuuli J."],["dc.contributor.author","Wichert, Sven P."],["dc.contributor.author","Stassart, Ruth Martha"],["dc.contributor.author","Hoerste, Gerd Meyer Zu"],["dc.contributor.author","Klink, Axel"],["dc.contributor.author","Weiss, Bernhard G."],["dc.contributor.author","Haag, Uwe"],["dc.contributor.author","Walter, Maggie C."],["dc.contributor.author","Rautenstrauss, Bernd"],["dc.contributor.author","Paulus, Walter J."],["dc.contributor.author","Rossner, Moritz J."],["dc.contributor.author","Sereda, Michael W."],["dc.date.accessioned","2018-11-07T09:15:45Z"],["dc.date.available","2018-11-07T09:15:45Z"],["dc.date.issued","2012"],["dc.description.abstract","Charcot-Marie-Tooth disease is the most common inherited neuropathy and a duplication of the peripheral myelin protein 22 gene causes the most frequent subform Charcot-Marie-Tooth 1A. Patients develop a slowly progressive dysmyelinating and demyelinating peripheral neuropathy and distally pronounced muscle atrophy. The amount of axonal loss determines disease severity. Although patients share an identical monogenetic defect, the disease progression is strikingly variable and the impending disease course can not be predicted in individual patients. Despite promising experimental data, recent therapy trials have failed. Established clinical outcome measures are thought to be too insensitive to detect amelioration within trials. Surrogate biomarkers of disease severity in Charcot-Marie-Tooth 1A are thus urgently needed. Peripheral myelin protein 22 transgenic rats harbouring additional copies of the peripheral myelin protein 22 gene ('Charcot-Marie-Tooth rats'), which were kept on an outbred background mimic disease hallmarks and phenocopy the variable disease severity of patients with Charcot-Marie-Tooth 1A. Hence, we used the Charcot-Marie-Tooth rat to dissect prospective and surrogate markers of disease severity derived from sciatic nerve and skin tissue messenger RNA extracts. Gene set enrichment analysis of sciatic nerve transcriptomes revealed that dysregulation of lipid metabolism associated genes such as peroxisome proliferator-activated receptor gamma constitutes a modifier of present and future disease severity. Importantly, we directly validated disease severity markers from the Charcot-Marie-Tooth rats in 46 patients with Charcot-Marie-Tooth 1A. Our data suggest that the combination of age and cutaneous messenger RNA levels of glutathione S-transferase theta 2 and cathepsin A composes a strong indicator of disease severity in patients with Charcot-Marie-Tooth 1A, as quantified by the Charcot-Marie-Tooth Neuropathy Score. This translational approach, utilizing a transgenic animal model, demonstrates that transcriptional analysis of skin biopsy is suitable to identify biomarkers of Charcot-Marie-Tooth 1A."],["dc.identifier.doi","10.1093/brain/awr322"],["dc.identifier.isi","000300044400016"],["dc.identifier.pmid","22189569"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/13524"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/27771"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Oxford Univ Press"],["dc.relation.issn","0006-8950"],["dc.rights","Goescholar"],["dc.rights.uri","https://goescholar.uni-goettingen.de/licenses"],["dc.title","A rat model of Charcot-Marie-Tooth disease 1A recapitulates disease variability and supplies biomarkers of axonal loss in patients"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1003"],["dc.bibliographiccitation.issue","11"],["dc.bibliographiccitation.journal","Neuromuscular Disorders"],["dc.bibliographiccitation.lastpage","1017"],["dc.bibliographiccitation.volume","24"],["dc.contributor.author","Mannil, Manoj"],["dc.contributor.author","Solari, Alessandra"],["dc.contributor.author","Leha, Andreas"],["dc.contributor.author","Pelayo-Negro, Ana L."],["dc.contributor.author","Berciano, Jose"],["dc.contributor.author","Schlotter-Weigel, Beate"],["dc.contributor.author","Walter, Maggie C."],["dc.contributor.author","Rautenstrauss, Bernd"],["dc.contributor.author","Schnizer, Tuuli Johanna"],["dc.contributor.author","Schenone, Angelo"],["dc.contributor.author","Seeman, Pavel"],["dc.contributor.author","Kadian, Chandini"],["dc.contributor.author","Schreiber, Olivia"],["dc.contributor.author","Angarita, Natalia G."],["dc.contributor.author","Fabrizi, Gian Maria"],["dc.contributor.author","Gemignani, Franco"],["dc.contributor.author","Padua, Luca"],["dc.contributor.author","Santoro, Lucio"],["dc.contributor.author","Quattrone, Aldo"],["dc.contributor.author","Vita, Giuseppe"],["dc.contributor.author","Calabrese, Daniela"],["dc.contributor.author","Young, Peter"],["dc.contributor.author","Laura, Matilde"],["dc.contributor.author","Haberlova, Jana"],["dc.contributor.author","Mazanec, Radim"],["dc.contributor.author","Paulus, Walter J."],["dc.contributor.author","Beißbarth, Tim"],["dc.contributor.author","Shy, Michael E."],["dc.contributor.author","Reilly, Mary M."],["dc.contributor.author","Pareyson, Davide"],["dc.contributor.author","Sereda, Michael Werner"],["dc.date.accessioned","2018-11-07T09:32:51Z"],["dc.date.available","2018-11-07T09:32:51Z"],["dc.date.issued","2014"],["dc.description.abstract","This study evaluates primary and secondary clinical outcome measures in Charcot-Marie-Tooth disease type 1A (CMT1A) with regard to their contribution towards discrimination of disease severity. The nine components of the composite Charcot-Marie-Tooth disease Neuropathy Score and six additional secondary clinical outcome measures were assessed in 479 adult patients with genetically proven CMT1A and 126 healthy controls. Using hierarchical clustering, we identified four significant clusters of patients according to clinical severity. We then tested the impact of each of the CMTNS components and of the secondary clinical parameters with regard to their power to differentiate these four clusters. The CMTNS components ulnar sensory nerve action potential (SNAP), pin sensibility, vibration and strength of arms did not increase the discriminant value of the remaining five CMTNS components (Ulnar compound motor action potential [CMAP], leg motor symptoms, arm motor symptoms, leg strength and sensory symptoms). However, three of the six additional clinical outcome measures the 10 m-timed walking test (T10MW), 9 hole-peg test (9HPT), and foot dorsal flexion dynamometry further improved discrimination between severely and mildly affected patients. From these findings, we identified three different composite measures as score hypotheses and compared their discriminant power with that of the CMTNS. A composite of eight components CMAP, Motor symptoms legs, Motor symptoms arms, Strength of Legs, Sensory symptoms), displayed the strongest power to discriminate between the clusters. As a conclusion, five items from the CMTNS and three secondary clinical outcome measures improve the clinical assessment of patients with CMT1A significantly and are beneficial for upcoming clinical and therapeutic trials. (C) 2014 Elsevier B.V. All rights reserved."],["dc.description.sponsorship","Medical Research Council [MR/K000608/1]"],["dc.identifier.doi","10.1016/j.nmd.2014.06.431"],["dc.identifier.isi","000345733600011"],["dc.identifier.pmid","25085517"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/31838"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Pergamon-elsevier Science Ltd"],["dc.relation.issn","1873-2364"],["dc.relation.issn","0960-8966"],["dc.title","Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","S39"],["dc.bibliographiccitation.journal","Journal of the Peripheral Nervous System"],["dc.bibliographiccitation.lastpage","S40"],["dc.bibliographiccitation.volume","16"],["dc.contributor.author","Fledrich, Robert"],["dc.contributor.author","Schlotter-Weigel, Beate"],["dc.contributor.author","Schnizer, Tuuli J."],["dc.contributor.author","Stassart, Ruth Martha"],["dc.contributor.author","Wichert, Sven P."],["dc.contributor.author","Hoerste, Meyer Zu G."],["dc.contributor.author","Weiss, B. G."],["dc.contributor.author","Haag, Uwe"],["dc.contributor.author","Walter, M. C."],["dc.contributor.author","Rautenstrauss, Bernd"],["dc.contributor.author","Paulus, Walter J."],["dc.contributor.author","Nave, K-A"],["dc.contributor.author","Rossner, Moritz J."],["dc.contributor.author","Sereda, Michael W."],["dc.date.accessioned","2018-11-07T08:52:58Z"],["dc.date.available","2018-11-07T08:52:58Z"],["dc.date.issued","2011"],["dc.identifier.isi","000293510300087"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/22294"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-blackwell"],["dc.publisher.place","Hoboken"],["dc.relation.conference","Meeting of the Peripheral-Nerve-Society"],["dc.relation.eventlocation","Potomac, MD"],["dc.relation.issn","1085-9489"],["dc.title","IDENTIFICATION AND VALIDATION OF DISEASE MARKER IN CHARCOT-MARIE-TOOTH DISEASE 1A (CMT1A)"],["dc.type","conference_abstract"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]