Publications by authors named "Christian Staufner"

33Publications

Monogenic variants in dystonia: an exome-wide sequencing study.

Authors:
Michael Zech Robert Jech Sylvia Boesch Matej Škorvánek Sandrina Weber Matias Wagner Chen Zhao Angela Jochim Ján Necpál Yasemin Dincer Katharina Vill Felix Distelmaier Malgorzata Stoklosa Martin Krenn Stephan Grunwald Tobias Bock-Bierbaum Anna Fečíková Petra Havránková Jan Roth Iva Příhodová Miriam Adamovičová Olga Ulmanová Karel Bechyně Pavlína Danhofer Branislav Veselý Vladimír Haň Petra Pavelekova Zuzana Gdovinová Tobias Mantel Tobias Meindl Alexandra Sitzberger Sebastian Schröder Astrid Blaschek Timo Roser Michaela V Bonfert Edda Haberlandt Barbara Plecko Birgit Leineweber Steffen Berweck Thomas Herberhold Berthold Langguth Jana Švantnerová Michal Minár Gonzalo Alonso Ramos-Rivera Monica H Wojcik Sander Pajusalu Katrin Õunap Ulrich A Schatz Laura Pölsler Ivan Milenkovic Franco Laccone Veronika Pilshofer Roberto Colombo Steffi Patzer Arcangela Iuso Julia Vera Monica Troncoso Fang Fang Holger Prokisch Friederike Wilbert Matthias Eckenweiler Elisabeth Graf Dominik S Westphal Korbinian M Riedhammer Theresa Brunet Bader Alhaddad Riccardo Berutti Tim M Strom Martin Hecht Matthias Baumann Marc Wolf Aida Telegrafi Richard E Person Francisca Millan Zamora Lindsay B Henderson David Weise Thomas Musacchio Jens Volkmann Anna Szuto Jessica Becker Kirsten Cremer Thomas Sycha Fritz Zimprich Verena Kraus Christine Makowski Pedro Gonzalez-Alegre Tanya M Bardakjian Laurie J Ozelius Annalisa Vetro Renzo Guerrini Esther Maier Ingo Borggraefe Alice Kuster Saskia B Wortmann Annette Hackenberg Robert Steinfeld Birgit Assmann Christian Staufner Thomas Opladen Evžen Růžička Ronald D Cohn David Dyment Wendy K Chung Hartmut Engels Andres Ceballos-Baumann Rafal Ploski Oliver Daumke Bernhard Haslinger Volker Mall Konrad Oexle Juliane Winkelmann

Lancet Neurol 2020 11;19(11):908-918

Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, Technical University of Munich, Munich, Germany; Lehrstuhl für Neurogenetik, Technical University of Munich, Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(20)30312-4DOI Listing
November 2020

FDA orphan drug designations for lysosomal storage disorders - a cross-sectional analysis.

PLoS One 2020 8;15(4):e0230898. Epub 2020 Apr 8.

Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0230898PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7141691PMC
July 2020

Early Exchange Transfusion to Treat Neonates With Gestational Alloimmune Liver Disease: An 11-Year Cohort Study.

J Pediatr Gastroenterol Nutr 2020 04;70(4):444-449

Department of Neonatology, Charité - Universitätsmedizin Berlin, Berlin.

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http://dx.doi.org/10.1097/MPG.0000000000002593DOI Listing
April 2020

RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.

Am J Hum Genet 2019 07 13;105(1):108-121. Epub 2019 Jun 13.

Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.05.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612521PMC
July 2019

Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1.

Stem Cell Res 2019 05 22;37:101428. Epub 2019 Mar 22.

Centre for Child and Adolescent Medicine, Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101428DOI Listing
May 2019

Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS: DHMCi004-A.

Stem Cell Res 2019 03 11;35:101398. Epub 2019 Feb 11.

Centre for Child and Adolescent Medicine, Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101398DOI Listing
March 2019

Response to Spagnoli et al.

Genet Med 2019 07 10;21(7):1665-1666. Epub 2018 Dec 10.

Department of General Pediatrics, Division of Neuropediatrics and Pediatric Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1038/s41436-018-0388-7DOI Listing
July 2019

AMPA Receptor Antagonist CFM-2 Decreases Survivin Expression in Cancer Cells.

Anticancer Agents Med Chem 2018 ;18(4):591-596

Department of Biochemistry and Molecular Biology, Medical University of Lublin, 20-093 Lublin, Poland.

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http://www.eurekaselect.com/160153/article
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http://dx.doi.org/10.2174/1871520618666180228123406DOI Listing
July 2019

Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.

Mol Genet Metab 2017 09 27;122(1-2):67-75. Epub 2017 Jun 27.

Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany; Clinical Chemistry & Biochemistry and Children's Research Center, University Children's Hospital, Zürich, Switzerland; Bioanalytics & Biochemistry, Department of Natural Sciences, University of Applied Sciences, Rheinbach, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.06.012DOI Listing
September 2017

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.

Mol Genet Metab 2017 07 22;121(3):206-215. Epub 2017 May 22.

Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany; Division of Clinical Chemistry & Biochemistry and Children's Research Center, University Children's Hospital, Zürich, Switzerland; Bioanalytics & Biochemistry, Department of Natural Sciences, University of Applied Sciences, Rheinbach, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.05.014DOI Listing
July 2017

Abstracts of the 52nd Workshop for Pediatric Research : Frankfurt, Germany. 27-28 October 2016.

Authors:
Rhea van den Bruck Patrick P Weil Thomas Ziegenhals Philipp Schreiner Stefan Juranek Daniel Gödde Silvia Vogel Frauke Schuster Valerie Orth Johannes Dörner Daniel Pembaur Meike Röper Stefan Störkel Hubert Zirngibl Stefan Wirth Andreas C W Jenke Jan Postberg Nikolas Boy Jana Heringer Gisela Haege Esther M Glahn Georg F Hoffmann Sven F Garbade Peter Burgard Stefan Kölker Cho-Ming Chao Faady Yahya Alena Moiseenko Amit Shrestha Negah Ahmadvand Jennifer Quantius Jochen Wilhelm Elie El-Agha Klaus-Peter Zimmer Saverio Bellusci Christian Staufner Stefan Kölker Holger Prokisch Georg F Hoffmann Stephan Seeliger Matthias Müller Andreas Hippe Henrik Steinkraus Roland Wauer Burkhard Lachmann Sigrun R Hofmann Christian M Hedrich Jakob Zierk Farhad Arzideh Rainer Haeckel Wolfgang Rascher Manfred Rauh Markus Metzler Sebastian Thieme Joanna Bandoła Cornelia Richter Martin Ryser Arshad Jamal Michelle P Ashton Malte von Bonin Matthias Kuhn Christian M Hedrich Ezio Bonifacio Reinhard Berner Sebastian Brenner Johanna Hammersen Cristina Has Nora Naumann-Bartsch Daniel Stachel Dimitra Kiritsi Stephan Söder Mathilde Tardieu Markus Metzler Leena Bruckner-Tuderman Holm Schneider F Bohne D Langer R Cencic T Eggermann U Zechner J Pelletier F Zepp T Enklaar D Prawitt Martin Pech Markus Weckmann Femke-Anouska Heinsen Andre Franke Christine Happle Anna-Maria Dittrich Gesine Hansen Oliver Fuchs Erika von Mutius Brian G Oliver Matthias V Kopp Claudia Paret Alexandra Russo Johanna Theruvath Bettina Keller Khalifa El Malki Nadine Lehmann Arthur Wingerter Marie A Neu Gerhold-Ay Aslihan Wolfgang Wagner Clemens Sommer Torsten Pietsch Larissa Seidmann Jörg Faber Felix Schreiner Merle Ackermann Michael Michalik Eva Rother Andras Bilkei-Gorzo Ildiko Racz Laura Bindila Beat Lutz Jörg Dötsch Andreas Zimmer Joachim Woelfle Hendrik S Fischer Tim L Ullrich Christoph Bührer Christoph Czernik Gerd Schmalisch Robert Stein Sigrun R Hofmann Judith Hagenbuchner Ursula Kiechl-Kohlendorfer Petra Obexer Michael J Ausserlechner Niki T Loges Adrien Tobias Frommer Julia Wallmeier Heymut Omran Soner Öner-Sieben Martina Gimpfl Jan Rozman Martin Irmler Johannes Beckers Martin Hrabe De Angelis Adelbert Roscher Eckhard Wolf Regina Ensenauer Karolina Nemes Michael Frühwald Martin Hasselblatt Reiner Siebert Uwe Kordes Marcel Kool Haicui Wang Holly Hardy Osama Refai Katy E S Barwick Holly H Zimmerman Joachim Weis Emma L Baple Andrew H Crosby Sebahattin Cirak C Hellmuth O Uhl M Standl J Heinrich E Thiering B Koletzko Lena Blümel Kornelius Kerl Daniel Picard Michael C Frühwald Max C Liebau Guido Reifenberger Arndt Borkhardt Martin Hasselblatt Marc Remke D Tews M Wabitsch P Fischer-Posovszky Mike-Andrew Westhoff Lisa Nonnenmacher Julia Langhans Lukas Schneele Nancy Trenkler Klaus-Michael Debatin

Mol Cell Pediatr 2017 May;4(Suppl 1)

Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany.

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http://dx.doi.org/10.1186/s40348-017-0071-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5435609PMC
May 2017

Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.

J Inherit Metab Dis 2017 01 26;40(1):5-20. Epub 2016 Sep 26.

Laboratory of Clinical Biochemistry and Metabolism, Department of General Pediatrics Adolescent Medicine and Neonatology, University Medical Centre Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1007/s10545-016-9972-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5203850PMC
January 2017

Genetic cause and prevalence of hydroxyprolinemia.

J Inherit Metab Dis 2016 09 2;39(5):625-632. Epub 2016 May 2.

Department of General Pediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, 69120, Heidelberg, Germany.

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http://doi.wiley.com/10.1007/s10545-016-9940-2
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http://dx.doi.org/10.1007/s10545-016-9940-2DOI Listing
September 2016

Silencing of selected glutamate receptor subunits modulates cancer growth.

Anticancer Res 2011 Oct;31(10):3181-92

Department of Pediatric Neurology, Children's Hospital, University of Technology, Dresden, Germany.

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October 2011

Glutamate receptors in pediatric tumors of the central nervous system.

Cancer Biol Ther 2010 Mar 9;9(6):455-68. Epub 2010 Mar 9.

Department of Pediatric Neurology, University Hospital Carl Gustav Carus, Children's Hospital, University of Technology Dresden, Dresden, Germany.

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http://dx.doi.org/10.4161/cbt.9.6.10898DOI Listing
March 2010

Expression of glutamate receptor subunits in human cancers.

Histochem Cell Biol 2009 Oct 14;132(4):435-45. Epub 2009 Jun 14.

Department of Biochemistry and Molecular Biology, Medical University of Lublin, Lublin 20-093, Poland.

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http://dx.doi.org/10.1007/s00418-009-0613-1DOI Listing
October 2009