Hasil Pencarian - Jutta Gärtner

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  1. 1
    B cell depletion can be effective in multiple sclerosis but failed in a patient with advanced childhood cerebral X-linked adrenoleukodystrophy

    B cell depletion can be effective in multiple sclerosis but failed in a patient with advanced childhood cerebral X-linked adrenoleukodystrophy oleh Hendrik Rosewich, Stefan Nessler, Wolfgang Brück, Jutta Gärtner

    Diterbitkan 2019-08-01
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  2. 2
    Follow-Up of a Case of Dopamine-Mediated Yawning-Fatigue-Syndrome Responsive to Opioids, Successful Desensitization via Graded Activity Treatment

    Follow-Up of a Case of Dopamine-Mediated Yawning-Fatigue-Syndrome Responsive to Opioids, Successful Desensitization via Graded Activity Treatment oleh Payam Dibaj, Dagmar Seeger, Jutta Gärtner, Frank Petzke

    Diterbitkan 2021-02-01
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  3. 3
    Characterization of the MeCP2R168X knockin mouse model for Rett syndrome.

    Characterization of the MeCP2R168X knockin mouse model for Rett syndrome. oleh Eike Wegener, Cornelia Brendel, Andre Fischer, Swen Hülsmann, Jutta Gärtner, Peter Huppke

    Diterbitkan 2014-01-01
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  4. 4
    LC-MS Based Platform Simplifies Access to Metabolomics for Peroxisomal Disorders

    LC-MS Based Platform Simplifies Access to Metabolomics for Peroxisomal Disorders oleh Henry Gerd Klemp, Matthias Kettwig, Frank Streit, Jutta Gärtner, Hendrik Rosewich, Ralph Krätzner

    Diterbitkan 2021-05-01
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  5. 5
    The functional readthrough extension of malate dehydrogenase reveals a modification of the genetic code

    The functional readthrough extension of malate dehydrogenase reveals a modification of the genetic code oleh Julia Hofhuis, Fabian Schueren, Christopher Nötzel, Thomas Lingner, Jutta Gärtner, Olaf Jahn, Sven Thoms

    Diterbitkan 2016-01-01
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  6. 6
    Evaluation of Novel Enhancer Compounds in Gentamicin-Mediated Readthrough of Nonsense Mutations in Rett Syndrome

    Evaluation of Novel Enhancer Compounds in Gentamicin-Mediated Readthrough of Nonsense Mutations in Rett Syndrome oleh Keit Men Wong, Eike Wegener, Alireza Baradaran-Heravi, Brenda Huppke, Jutta Gärtner, Peter Huppke

    Diterbitkan 2023-07-01
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  7. 7
    Cognitive deficits including executive functioning in relation to clinical parameters in paediatric MS patients.

    Cognitive deficits including executive functioning in relation to clinical parameters in paediatric MS patients. oleh Eva Wuerfel, Almuth Weddige, York Hagmayer, Rebecca Jacob, Lisa Wedekind, Wiebke Stark, Jutta Gärtner

    Diterbitkan 2018-01-01
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  8. 8
    Peroxisomal lactate dehydrogenase is generated by translational readthrough in mammals

    Peroxisomal lactate dehydrogenase is generated by translational readthrough in mammals oleh Fabian Schueren, Thomas Lingner, Rosemol George, Julia Hofhuis, Corinna Dickel, Jutta Gärtner, Sven Thoms

    Diterbitkan 2014-09-01
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  9. 9
    Mannose phosphate isomerase deficiency‐congenital disorder of glycosylation (MPI‐CDG) with cerebral venous sinus thrombosis as first and only presenting symptom: A rare but treatable cause of thrombophilia

    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... oleh Chris Mühlhausen, Lisa Henneke, Lars Schlotawa, Daniel Behme, Marianne Grüneberg, Jutta Gärtner, Thorsten Marquardt

    Diterbitkan 2020-09-01
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  10. 10
    Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient

    Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient oleh Lars Schlotawa, Thomas Dierks, Sophie Christoph, Eva Cloppenburg, Andreas Ohlenbusch, G. Christoph Korenke, Jutta Gärtner

    Diterbitkan 2019-09-01
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  11. 11
    Multiple Sulfatase Deficiency from an Ophthalmologist’s Perspective—Case Report and Literature Review

    Multiple Sulfatase Deficiency from an Ophthalmologist’s Perspective—Case Report and Literature Review oleh Michael P. Schittkowski, Sabine Naxer, Mohamed Elabbasy, Leonie Herholz, Vivian Breitling, Alan Finglas, Jutta Gärtner, Lars Schlotawa

    Diterbitkan 2023-03-01
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  12. 12
    Zebrafish disease model of human RNASET2-deficient cystic leukoencephalopathy displays abnormalities in early microglia

    Zebrafish disease model of human RNASET2-deficient cystic leukoencephalopathy displays abnormalities in early microglia oleh Thomas Weber, Lars Schlotawa, Roland Dosch, Noémie Hamilton, Jens Kaiser, Stina Schiller, Britta Wenske, Jutta Gärtner, Marco Henneke

    Diterbitkan 2020-05-01
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  13. 13
    Long term follow-up in GAMT deficiency – Correlation of therapy regimen, biochemical and in vivo brain proton MR spectroscopy data

    Long term follow-up in GAMT deficiency – Correlation of therapy regimen, biochemical and in vivo brain proton MR spectroscopy data oleh Lara M. Marten, Ralph Krätzner, Gajja S. Salomons, Matilde Fernandez Ojeda, Peter Dechent, Jutta Gärtner, Peter Huppke, Steffi Dreha-Kulaczewski

    Diterbitkan 2024-03-01
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  14. 14
    Spinal CSF flow in response to forced thoracic and abdominal respiration

    Spinal CSF flow in response to forced thoracic and abdominal respiration oleh Gökmen Aktas, Jost M. Kollmeier, Arun A. Joseph, Klaus-Dietmar Merboldt, Hans-Christoph Ludwig, Jutta Gärtner, Jens Frahm, Steffi Dreha-Kulaczewski

    Diterbitkan 2019-04-01
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  15. 15
    MRI-based diagnostic biomarkers for early onset pediatric multiple sclerosis

    MRI-based diagnostic biomarkers for early onset pediatric multiple sclerosis oleh Martin Weygandt, Hannah-Maria Hummel, Katharina Schregel, Kerstin Ritter, Carsten Allefeld, Esther Dommes, Peter Huppke, John­Dylan Haynes, Jens Wuerfel, Jutta Gärtner

    Diterbitkan 2015-01-01
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  16. 16
    Improving pediatric multiple sclerosis interventional phase III study design: a meta-analysis

    Improving pediatric multiple sclerosis interventional phase III study design: a meta-analysis oleh Jennifer S. Graves, Marius Thomas, Jun Li, Anuja R. Shah, Alexandra Goodyear, Markus R. Lange, Heinz Schmidli, Dieter A. Häring, Tim Friede, Jutta Gärtner

    Diterbitkan 2022-04-01
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  17. 17
    Deep breathing couples CSF and venous flow dynamics

    Deep breathing couples CSF and venous flow dynamics oleh Jost M. Kollmeier, Lukas Gürbüz-Reiss, Prativa Sahoo, Simon Badura, Ben Ellebracht, Mathilda Keck, Jutta Gärtner, Hans-Christoph Ludwig, Jens Frahm, Steffi Dreha-Kulaczewski

    Diterbitkan 2022-02-01
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  18. 18
    Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity

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

    Diterbitkan 2020-09-01
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  19. 19
    Bi‐allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis‐like disease

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

    Diterbitkan 2021-05-01
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  20. 20
    Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder

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

    Diterbitkan 2017-10-01
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