Resultados da pesquisa - Gärtner, Jutta

Rational diagnostic strategy for Zellweger syndrome spectrum patients Por Krause, Cindy, Rosewich, Hendrik, Gärtner, Jutta

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Tumefactive inflammatory lesions in juvenile metachromatic leukodystrophy Por Meier, Kolja, Gärtner, Jutta, Huppke, Peter

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Lymphoblastoid Cell Lines for Diagnosis of Peroxisome Biogenesis Disorders Por Grønborg, Sabine, Krätzner, Ralph, Rosewich, Hendrik, Gärtner, Jutta

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

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

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Pelizaeus–Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction Por Diekmann, Simone, Henneke, Marco, Burckhardt, Birgitta C, Gärtner, Jutta

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Methotrexate treatment of FraX fibroblasts results in FMR1 transcription but not in detectable FMR1 protein levels Por Brendel, Cornelia, Mielke, Benjamin, Hillebrand, Merle, Gärtner, Jutta, Huppke, Peter

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Cathepsin D Polymorphism C224T in Childhood-Onset Neurodegenerative Disorders: No Impact for Childhood Dementia Por Kettwig, Matthias, Ohlenbusch, Andreas, Jung, Klaus, Steinfeld, Robert, Gärtner, Jutta

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Super-resolution imaging reveals the sub-diffraction phenotype of Zellweger Syndrome ghosts and wild-type peroxisomes Por Soliman, Kareem, Göttfert, Fabian, Rosewich, Hendrik, Thoms, Sven, Gärtner, Jutta

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Breathing drives CSF: Impact on spaceflight disease and hydrocephalus Por Ludwig, Hans-Christoph, Frahm, Jens, Gärtner, Jutta, Dreha-Kulaczewski, Steffi

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Clinical utility gene card for: Zellweger syndrome spectrum Por Rosewich, Hendrik, Waterham, Hans, Poll-The, Bwee Tien, Ohlenbusch, Andreas, Gärtner, Jutta

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Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients Por Thoms, Sven, Grønborg, Sabine, Rabenau, Jana, Ohlenbusch, Andreas, Rosewich, Hendrik, Gärtner, Jutta

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Characterization of the MeCP2(R168X) Knockin Mouse Model for Rett Syndrome Por Wegener, Eike, Brendel, Cornelia, Fischer, Andre, Hülsmann, Swen, Gärtner, Jutta, Huppke, Peter

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Interferon beta-1b in treatment-naïve paediatric patients with relapsing–remitting multiple sclerosis: Two-year results from the BETAPAEDIC study Por Gärtner, Jutta, Brück, Wolfgang, Weddige, Almuth, Hummel, Hannah, Norenberg, Christiane, Bugge, Jörg-Peter

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

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Breathing dysfunctions associated with impaired control of postinspiratory activity in Mecp2(−/y) knockout mice Por Stettner, Georg M, Huppke, Peter, Brendel, Cornelia, Richter, Diethelm W, Gärtner, Jutta, Dutschmann, Mathias

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Serial proton MR spectroscopy and diffusion tensor imaging in infantile Balo’s concentric sclerosis Por Dreha-Kulaczewski, Steffi F., Helms, Gunther, Dechent, Peter, Hofer, Sabine, Gärtner, Jutta, Frahm, Jens

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Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency Por Schlotawa, Lars, Radhakrishnan, Karthikeyan, Baumgartner, Matthias, Schmid, Regula, Schmidt, Bernhard, Dierks, Thomas, Gärtner, Jutta

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

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

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