Follow-Up of a Case of Dopamine-Mediated Yawning-Fatigue-Syndrome Responsive to Opioids, Successful Desensitization via Graded Activity Treatment

by Payam Dibaj, Dagmar Seeger, Jutta Gärtner, Frank Petzke
Published 2021-02-01

B cell depletion can be effective in multiple sclerosis but failed in a patient with advanced childhood cerebral X-linked adrenoleukodystrophy

by Hendrik Rosewich, Stefan Nessler, Wolfgang Brück, Jutta Gärtner
Published 2019-08-01

Characterization of the MeCP2R168X knockin mouse model for Rett syndrome.

by Eike Wegener, Cornelia Brendel, Andre Fischer, Swen Hülsmann, Jutta Gärtner, Peter Huppke
Published 2014-01-01

LC-MS Based Platform Simplifies Access to Metabolomics for Peroxisomal Disorders

by Henry Gerd Klemp, Matthias Kettwig, Frank Streit, Jutta Gärtner, Hendrik Rosewich, Ralph Krätzner
Published 2021-05-01

Peroxisomal lactate dehydrogenase is generated by translational readthrough in mammals

by Fabian Schueren, Thomas Lingner, Rosemol George, Julia Hofhuis, Corinna Dickel, Jutta Gärtner, Sven Thoms
Published 2014-09-01

Mannose phosphate isomerase deficiency‐congenital disorder of glycosylation (MPI‐CDG) with cerebral venous sinus thrombosis as first and only presenting symptom: A rare but treatab...

by Chris Mühlhausen, Lisa Henneke, Lars Schlotawa, Daniel Behme, Marianne Grüneberg, Jutta Gärtner, Thorsten Marquardt
Published 2020-09-01

Cognitive deficits including executive functioning in relation to clinical parameters in paediatric MS patients.

by Eva Wuerfel, Almuth Weddige, York Hagmayer, Rebecca Jacob, Lisa Wedekind, Wiebke Stark, Jutta Gärtner
Published 2018-01-01

The functional readthrough extension of malate dehydrogenase reveals a modification of the genetic code

by Julia Hofhuis, Fabian Schueren, Christopher Nötzel, Thomas Lingner, Jutta Gärtner, Olaf Jahn, Sven Thoms
Published 2016-01-01

Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient

by Lars Schlotawa, Thomas Dierks, Sophie Christoph, Eva Cloppenburg, Andreas Ohlenbusch, G. Christoph Korenke, Jutta Gärtner
Published 2019-09-01

Zebrafish disease model of human RNASET2-deficient cystic leukoencephalopathy displays abnormalities in early microglia

by Thomas Weber, Lars Schlotawa, Roland Dosch, Noémie Hamilton, Jens Kaiser, Stina Schiller, Britta Wenske, Jutta Gärtner, Marco Henneke
Published 2020-05-01

Spinal CSF flow in response to forced thoracic and abdominal respiration

by Gökmen Aktas, Jost M. Kollmeier, Arun A. Joseph, Klaus-Dietmar Merboldt, Hans-Christoph Ludwig, Jutta Gärtner, Jens Frahm, Steffi Dreha-Kulaczewski
Published 2019-04-01

MRI-based diagnostic biomarkers for early onset pediatric multiple sclerosis

by Martin Weygandt, Hannah-Maria Hummel, Katharina Schregel, Kerstin Ritter, Carsten Allefeld, Esther Dommes, Peter Huppke, John­Dylan Haynes, Jens Wuerfel, Jutta Gärtner
Published 2015-01-01

Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease...

by Elinor Lazarov, Merle Hillebrand, Simone Schröder, Katharina Ternka, Julia Hofhuis, Andreas Ohlenbusch, Alonso Barrantes-Freer, Luis A. Pardo, Marlene U. Fruergaard, Poul Nissen, Knut Brockmann, Jutta Gärtner, Hendrik Rosewich
Published 2020-09-01

Bi‐allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis‐like disease

by Kalliopi Sofou, Kolja Meier, Leslie E Sanderson, Debora Kaminski, Laia Montoliu‐Gaya, Emma Samuelsson, Maria Blomqvist, Lotta Agholme, Jutta Gärtner, Chris Mühlhausen, Niklas Darin, Tahsin Stefan Barakat, Lars Schlotawa, Tjakko vanHam, Jorge Asin Cayuela, Fredrik H Sterky
Published 2021-05-01

Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder

by Peter Huppke, Susann Weissbach, Joseph A. Church, Rhonda Schnur, Martina Krusen, Steffi Dreha-Kulaczewski, W. Nikolaus Kühn-Velten, Annika Wolf, Brenda Huppke, Francisca Millan, Amber Begtrup, Fatima Almusafri, Holger Thiele, Janine Altmüller, Peter Nürnberg, Michael Müller, Jutta Gärtner
Published 2017-10-01