Publications by authors named "Esther Maier"

67Publications

Rationally Designed Redox-Active Au(I) N-Heterocyclic Carbene: An Immunogenic Cell Death Inducer.

J Am Chem Soc 2020 Dec 25;142(49):20536-20541. Epub 2020 Nov 25.

Department of Chemistry, The University of Texas at Austin, 105 East 24th Street, Austin, Texas 78712, United States.

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December 2020

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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November 2020

Controlled loading of albumin-drug conjugates ex vivo for enhanced drug delivery and antitumor efficacy.

J Control Release 2020 Dec 14;328:1-12. Epub 2020 Aug 14.

Division of Molecular Pharmaceutics and Drug Delivery, College of Pharmacy, The University of Texas at Austin, Austin, TX 78712, USA. Electronic address:

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December 2020

Diagnostic Challenges Using a 2-Tier Strategy for Methylmalonic Acidurias: Data from 1.2 Million Dried Blood Spots.

Ann Nutr Metab 2020 17;76(4):268-276. Epub 2020 Jul 17.

Department of Inborn Errors of Metabolism, Dr. von Hauner Children's Hospital, Ludwig Maximilian University, Munich, Germany,

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July 2020

[Dietary treatment of inborn errors of metabolism-a balancing act between indulgence and therapy].

Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz 2020 Jul;63(7):864-871

Abteilung für angeborene Stoffwechselerkrankungen, Kinderklinik und Kinderpoliklinik im Dr. von Haunerschen Kinderspital der LMU München, Lindwurmstr. 4, 80337, München, Deutschland.

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July 2020

Retinal axonal degeneration in Niemann-Pick type C disease.

J Neurol 2020 Jul 28;267(7):2070-2082. Epub 2020 Mar 28.

Department of Neurology, Ludwig-Maximilians University München, Marchioninistr. 15, 81377, Munich, Germany.

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July 2020

Hydrophilic Poly(urethanes) Are an Effective Tool for Gastric Retention Independent of Drug Release Rate.

J Pharm Sci 2020 06 20;109(6):1967-1977. Epub 2020 Feb 20.

Molecular Pharmaceutics and Drug Delivery, College of Pharmacy, The University of Texas at Austin, 2409 University Avenue, Austin, Texas 78712. Electronic address:

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June 2020

Development of an Excipient-Free Peptide Dry Powder Inhalation for the Treatment of Pulmonary Fibrosis.

Mol Pharm 2020 02 8;17(2):632-644. Epub 2020 Jan 8.

Division of Molecular Pharmaceutics and Drug Delivery, College of Pharmacy , The University of Texas at Austin , 2409 University Avenue , Austin , Texas 78712 , United States.

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February 2020

Management of three preterm infants with phenylketonuria.

Nutrition 2020 03 17;71:110619. Epub 2019 Oct 17.

Dr. von Hauner Children's Hospital, Department of Inborn Errors of Metabolism, Ludwig-Maximilians-University, Munich, Germany. Electronic address:

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March 2020

Multiple foraminal compression in a child with sialidosis type 2.

Neurology 2019 07;93(4):168-169

From the Center for Pediatric Palliative Care (H.-U.B.), Department of Pediatric Neurology (I.B.), and Department of Inborn Errors of Metabolism (E.M.M.), Dr. von Hauner Children's Hospital, and Institute for Diagnostic and Clinical Radiology (E.C.), University of Munich Medical Center, Ludwig-Maximilians-University, Germany.

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July 2019

Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.

Orphanet J Rare Dis 2018 07 20;13(1):122. Epub 2018 Jul 20.

Department of Inborn Errors of Metabolism, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Lindwurmstr. 4, 80337, Munich, Germany.

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July 2018

Neurological Sequelae due to Inborn Metabolic Diseases in Pediatric Refugees: Challenges in Treating the Untreated.

Neuropediatrics 2018 12 28;49(6):363-368. Epub 2018 Jun 28.

Department of Inborn Errors of Metabolism, Ludwig-Maximilians University of Munich, Dr. von Hauner Children's Hospital, Munich, Germany.

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December 2018

Anaplastic Lymphoma Kinase Is a Regulator of Alcohol Consumption and Excitatory Synaptic Plasticity in the Nucleus Accumbens Shell.

Front Pharmacol 2017 15;8:533. Epub 2017 Aug 15.

Division of Pharmacology and Toxicology, College of Pharmacy, The University of Texas at Austin, AustinTX, United States.

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August 2017

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.

J Inherit Metab Dis 2017 01 16;40(1):75-101. Epub 2016 Nov 16.

Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

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January 2017

Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.

Am J Hum Genet 2016 Dec 10;99(6):1377-1387. Epub 2016 Nov 10.

Institut für Neurogenomik, Helmholtz Zentrum München, 85764 Munich, Germany; Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technische Universität München, 81675 Munich, Germany; Institut für Humangenetik, Technische Universität München, 81675 Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, 81377 Munich, Germany. Electronic address:

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December 2016

Selective alterations of NMDAR function and plasticity in D1 and D2 medium spiny neurons in the nucleus accumbens shell following chronic intermittent ethanol exposure.

Neuropharmacology 2017 01 2;112(Pt A):164-171. Epub 2016 Mar 2.

Institute for Neuroscience, The University of Texas at Austin, Austin, TX, USA; The Division of Pharmacology and Toxicology, The University of Texas at Austin, Austin, TX, USA; Waggoner Center for Alcohol and Addiction Research, The University of Texas at Austin, Austin, TX, USA. Electronic address:

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January 2017

RA and FGF signalling are required in the zebrafish otic vesicle to pattern and maintain ventral otic identities.

PLoS Genet 2014 Dec 4;10(12):e1004858. Epub 2014 Dec 4.

MRC Centre for Developmental and Biomedical Genetics, Bateson Centre and Department of Biomedical Science, University of Sheffield, Sheffield, United Kingdom.

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December 2014

Sensational placodes: neurogenesis in the otic and olfactory systems.

Dev Biol 2014 May 6;389(1):50-67. Epub 2014 Feb 6.

MRC Centre for Developmental and Biomedical Genetics and Department of Biomedical Science, University of Sheffield, Sheffield, S10 2TN, UK. Electronic address:

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May 2014

Individual differences in the conditioned and unconditioned rat 50-kHz ultrasonic vocalizations elicited by repeated amphetamine exposure.

Psychopharmacology (Berl) 2013 Oct 23;229(4):687-700. Epub 2013 May 23.

Department of Psychology, University of Texas at Austin, Austin, TX, 78712, USA,

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October 2013

What are effects of a spaced activation of virtual patients in a pediatric course?

BMC Med Educ 2013 Mar 28;13:45. Epub 2013 Mar 28.

University Children's Hospital Salzburg, Salzburg, Austria.

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March 2013

Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parameters.

J Inherit Metab Dis 2013 May 13;36(3):525-33. Epub 2012 Sep 13.

Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Hospital Heidelberg, Heidelberg, Germany.

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May 2013

The missing variable: ultrasonic vocalizations reveal hidden sensitization and tolerance-like effects during long-term cocaine administration.

Psychopharmacology (Berl) 2012 Feb 26;219(4):1141-52. Epub 2011 Aug 26.

Division of Pharmacology and Toxicology, College of Pharmacy, University of Texas, Austin, TX 78712, USA.

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February 2012

A balance of BMP and notch activity regulates neurogenesis and olfactory nerve formation.

PLoS One 2011 Feb 23;6(2):e17379. Epub 2011 Feb 23.

Umeå Center for Molecular Medicine, Umeå University, Umeå, Sweden.

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February 2011

Newborn screening for isovaleric acidemia using tandem mass spectrometry: data from 1.6 million newborns.

Clin Chem 2011 Apr 18;57(4):623-6. Epub 2011 Feb 18.

Dr. von Hauner Children's Hospital, Children's Research Centre, Ludwig-Maximilians-Universität, Munich, Germany.

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April 2011

Assessment of ultrasonic vocalizations during drug self-administration in rats.

J Vis Exp 2010 Jul 22(41). Epub 2010 Jul 22.

College of Pharmacy, Division of Pharmacology and Toxicology, University of Texas at Austin, TX, USA.

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July 2010

Cocaine deprivation effect: cue abstinence over weekends boosts anticipatory 50-kHz ultrasonic vocalizations in rats.

Behav Brain Res 2010 Dec 12;214(1):75-9. Epub 2010 May 12.

College of Pharmacy, Division of Pharmacology and Toxicology, University of Texas at Austin, TX 78712, USA.

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December 2010

Opposing Fgf and Bmp activities regulate the specification of olfactory sensory and respiratory epithelial cell fates.

Development 2010 May 14;137(10):1601-11. Epub 2010 Apr 14.

Umeå Center for Molecular Medicine, Building 6M, 4th Floor, Umeå University, Umeå, Sweden.

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May 2010

Repeated intravenous cocaine experience: development and escalation of pre-drug anticipatory 50-kHz ultrasonic vocalizations in rats.

Behav Brain Res 2010 Sep 9;212(1):109-14. Epub 2010 Apr 9.

Department of Psychology and Institute for Neuroscience, University of Texas, Austin, TX 78712, USA.

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September 2010

Behavioral, thermal and neurochemical effects of acute and chronic 3,4-methylenedioxymethamphetamine ("Ecstasy") self-administration.

Behav Brain Res 2010 Mar 3;207(2):500-7. Epub 2009 Nov 3.

College of Pharmacy, Division of Pharmacology and Toxicology, University of Texas, Austin, TX 78712-0125, USA.

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March 2010

Dynamic expression of neurogenic markers in the developing chick olfactory epithelium.

Dev Dyn 2009 Jun;238(6):1617-25

Umeå Center for Molecular Medicine, Umeå University, Umeå, Sweden.

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June 2009

[Breaking bad news--a video-based training unit for medical students].

Z Kinder Jugendpsychiatr Psychother 2009 Mar;37(2):139-44

Klinik für Kinder- und Jugendpsychiatrie, Psychosomatik und Psychotherapie, Klinikum der Universität München.

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March 2009

Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening.

Hum Mol Genet 2009 May 18;18(9):1612-23. Epub 2009 Feb 18.

Department of Molecular Pediatrics, Children's Research Center, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany.

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May 2009

X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype.

Biochem Biophys Res Commun 2008 Dec 1;377(1):176-80. Epub 2008 Oct 1.

Department of Biochemical Genetics and Molecular Biology, Dr von Hauner Children's Hospital, Research Center, Ludwig-Maximilians-University, Munich, Germany.

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December 2008

Repeated intravenous amphetamine exposure: rapid and persistent sensitization of 50-kHz ultrasonic trill calls in rats.

Behav Brain Res 2009 Jan 3;197(1):205-9. Epub 2008 Sep 3.

Department of Psychology and Institute for Neuroscience, University of Texas at Austin, TX 78712, USA.

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January 2009

Diazepam alters cocaine self-administration, but not cocaine-stimulated locomotion or nucleus accumbens dopamine.

Pharmacol Biochem Behav 2008 Nov 20;91(1):202-7. Epub 2008 Jul 20.

College of Pharmacy, Division of Pharmacology and Toxicology, University of Texas at Austin. PHAR-Pharmacology, 1 University Station A1915, Austin, TX 78712-0125, USA.

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November 2008

Experience-dependent changes in temperature and behavioral activity induced by MDMA.

Physiol Behav 2006 Oct 27;89(3):358-63. Epub 2006 Jul 27.

College of Pharmacy, Division of Pharmacology and Toxicology, University of Texas at Austin, PHAR-Pharmacology, 1 University Station A1915, Austin, TX 78712-0125, USA.

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October 2006

Disease manifestations and X inactivation in heterozygous females with Fabry disease.

Acta Paediatr Suppl 2006 Apr;95(451):30-8

Research Centre, Department of Biochemical Genetics and Molecular Biology, Dr von Hauner Children's Hospital, Ludwig-Maximilian University, Munich, Germany.

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April 2006

Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene.

Ann Neurol 2004 Oct;56(4):560-4

Department of Paediatrics, Nijmegen Centre for Mitochondrial Disorders, University Medical Centre Nijmegen, Nijmegen, The Netherlands.

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October 2004

Simultaneous quantitative and allele-specific expression analysis with real competitive PCR.

BMC Genet 2004 May 5;5. Epub 2004 May 5.

Bioinformatics Program and Center for Advanced Biotechnology, Boston University, Boston, MA 02215, USA.

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May 2004

Zebrafish mnx genes in endocrine and exocrine pancreas formation.

Dev Biol 2004 Apr;268(2):372-83

Department of Developmental Biology, Biology I, University of Freiburg, Freiburg, Germany.

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April 2004

Evidence against the adrenoleukodystrophy-related gene acting as a modifier of X-adrenoleukodystrophy.

Adv Exp Med Biol 2003 ;544:95-6

Dr. Von Hauner Children 's Hospital, Ludwig-Maximilians-University Munich, Lindwurmstrasse 4, 80447 Munich, Germany.

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July 2004

Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation.

Ann Neurol 2002 Nov;52(5):683-8

Laboratory of Molecular Biology, Dr von Hauner Children's Hospital, University of Munich, Lindwurmstrasse 4, 80337 Munich, Germany.

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November 2002

Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency.

Am J Hum Genet 2002 Jan 21;70(1):20-5. Epub 2001 Nov 21.

Department of Pediatrics, Division of Clinical Chemistry and Metabolism, Dr. v. Hauner Children's Hospital, Ludwig-Maximilian-University, Munich, Germany.

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January 2002