Auflistung nach Autor "Böhringer, Judith"

A Mutation-Agnostic Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy

Daniel Moreno, Alberto; Raju, Janani; Kaftancioglu, Merve; Ureña Bailén, Guillermo; Rottenberger, Jennifer; Hou, Yujuan; Santhanakumaran, Vidiyaah; Lee, Jun-Hoe; Heumos, Lukas; Handgretinger, Rupert; Mezger, Markus; Selvaraj, Justin Antony; Lamsfus Calle, Andrés; Böhringer, Judith; Krägeloh-Mann, Ingeborg (2022)

Association of Age at Onset and First Symptoms With Disease Progression in Patients With Metachromatic Leukodystrophy

Kehrer, Christiane; Raabe, Christa; Beck-Wödl, Stefanie; Bevot, Andrea; Kaiser, Nadja; Elgün, Saskia; Böhringer, Judith; Schöls, Ludger; Krägeloh-Mann, Ingeborg; Gröschel, Samuel (2021)

Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy

Krarup, Christian; Kehrer, Christiane; Wilke, Marko; Gröschel, Samuel; Krägeloh-Mann, Ingeborg; Böhringer, Judith; Clas, Philipp Matthias (2012)

Chitotriosidase is a biomarker for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

Hayer, Stefanie Nicole; Santhanakumaran, Vidiyaah; Böhringer, Judith; Schöls, Ludger (2022)

Co-Transplantation von hämatopoetischen Stammzellen und mesenchymalen Stromazellen als Therapieansatz bei metachromatischer Leukodystrophie

Böhringer, Judith (2012)

Early clinical course after hematopoietic stem cell transplantation in children with juvenile metachromatic leukodystrophy

Beschle, Judith; Döring, Michaela; Kehrer, Christiane; Raabe, Christa; Bayha, Ute; Strölin, Manuel; Böhringer, Judith; Bevot, Andrea; Kaiser, Nadja; Bender, Benjamin; Grimm, Alexander; Lang, Peter; Müller, Ingo; Krägeloh-Mann, Ingeborg; Gröschel, Samuel (2020)

Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells

Böhringer, Judith; Pechan, Maria; Kustermann-Kuhn, Birgit; Handgretinger, Rupert; Schöls, Ludger; Harzer, Klaus; Krägeloh-Mann, Ingeborg (2017)

Generation of two iPSC lines derived from two unrelated patients with Gaucher disease

Nagel, Maike; Reichbauer, Jennifer; Böhringer, Judith; Schelling, Yvonne; Krägeloh-Mann, Ingeborg; Schüle-Freyer, Rebecca; Ulmer, Ulrike (2019)

Hematopoietic Stem Cell Transplantation with Mesenchymal Stromal Cells in Children with Metachromatic Leukodystrophy

Cabanillas Stanchi, Karin Melanie; Strölin, Manuel; Gröschel, Samuel; Lenglinger, Katrin; Treuner, Claudia; Kehrer, Christiane; Laugwitz, Lucia; Bevot, Andrea; Kaiser, Nadja; Schumm, Michael; Lang, Peter; Handgretinger, Rupert; Krägeloh-Mann, Ingeborg; Döring, Michaela; Böhringer, Judith (2022)

Late onset Krabbe disease due to the new GALC p.A1a543Pro mutation, with intriguingly high residual GALC activity in vitro

Harzer, Klaus; Bornemann, Antje; Bevot, Andrea; Beck, Verena; Merkel, Gisela; Pechan, Maria; Krägeloh-Mann, Ingeborg; Beck-Wödl, Stefanie; Böhringer, Judith (2017)

Long-term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort

Beck-Wödl, Stefanie; Kehrer, Christiane; Harzer, Klaus; Haack, Tobias; Riess, Angelika; Gröschel, Samuel; Krägeloh-Mann, Ingeborg; Böhringer, Judith (2021)

Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients

Kehrer, Christiane; Gröschel, Samuel; Döring, Michaela; Böhringer, Judith; Krägeloh-Mann, Ingeborg; Müller, Ingo (2016)

Measurement of recombinant human arylsulfatase A and leukocyte sulfatase activities by analytical isotachophoresis

Baysal, Fatma; Bruchelt, Gernot; Pajarola, Sandra Maria; Weißenberg, Christine; Krägeloh-Mann, Ingeborg; Böhringer, Judith (2019)

Optimization of Enzyme Essays to Enhance Reliability of Activity Measurements in Leukocyte Lysates for the Diagnosis of Metachromatic Leukodystrophy and Gangliosidoses

Santhanakumaran, Vidiyaah; Bruchelt, Gernot; Strobel, Sebastian Georg Christopher; Hesse, Naomi Anne; Gröschel, Samuel; Krägeloh-Mann, Ingeborg; Böhringer, Judith (2020)

Phenotypic variation between siblings with Metachromatic Leukodystrophy

Elgün, Saskia; Waibel, Jakob; Kehrer, Christiane; Böhringer, Judith; Beck-Wödl, Stefanie; Just, Jennifer; Schöls, Ludger; Krägeloh-Mann, Ingeborg; Gröschel, Samuel (2019)

Rare Variant of GM2 Gangliosidosis through Activator-Protein Deficiency

Kehrer, Christiane; Böhringer, Judith; Krägeloh-Mann, Ingeborg (2017)

SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family

Röben, Benjamin; Ruf, Susanne; Bender, Benjamin; Benkert, Tanja; Reich, Selina; Synofzik, Matthis; Schüle-Freyer, Rebecca; Böhringer, Judith; Krägeloh-Mann, Ingeborg; Schöls, Ludger (2018)

The Mutation Matters: CSF Profiles of GCase, Sphingolipids, alpha-Synuclein in PDGBA

Lerche, Stefanie; Schulte, Claudia; Wurster, Isabel; Machetanz, Gerrit; Deuschle, Christian; Hauser, Ann-Kathrin; Gasser, Thomas; Mollenhauer, Brit; Berg, Daniela; Brockmann, Kathrin; Röben, Benjamin; Zimmermann, Milan Raoul; Böhringer, Judith; Krägeloh-Mann, Ingeborg; Liepelt, Inga (2021)

Auflistung nach Autor "Böhringer, Judith"

Auflistung nach Autor "Böhringer, Judith"

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