Publications by authors named "Birgit Assmann"

39Publications

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

Inherited Disorders of Neurotransmitters: Classification and Practical Approaches for Diagnosis and Treatment.

Neuropediatrics 2019 02 29;50(1):2-14. Epub 2018 Oct 29.

Division of Neuropediatrics and Metabolic Medicine, Department of General Pediatrics, University Children's Hospital Heidelberg, Heidelberg, Germany.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1673630
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http://dx.doi.org/10.1055/s-0038-1673630DOI Listing
February 2019

A novel, in-frame KMT2B deletion in a patient with apparently isolated, generalized dystonia.

Mov Disord 2017 10 18;32(10):1495-1497. Epub 2017 Sep 18.

Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.

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http://dx.doi.org/10.1002/mds.27137DOI Listing
October 2017

Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye.

Am J Med Genet A 2017 Jul 10;173(7):1878-1886. Epub 2017 May 10.

Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.38252DOI Listing
July 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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http://link.springer.com/10.1007/s10545-016-9999-9
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http://dx.doi.org/10.1007/s10545-016-9999-9DOI Listing
January 2017

Disruption of SOX6 is associated with a rapid-onset dopa-responsive movement disorder, delayed development, and dysmorphic features.

Pediatr Neurol 2015 Jan 17;52(1):115-8. Epub 2014 Sep 17.

Institute of Human Genetics, Ruprecht-Karls-University Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.08.021DOI Listing
January 2015

Child Neurology: PRRT2-associated movement disorders and differential diagnoses.

Neurology 2014 Oct;83(18):1680-3

From the Division of Pediatric Neurology (D.E.-F., K.-S.K., U.K., B.E.A.), Department of Pediatrics I, Heidelberg University Hospital, Ruprecht-Karls-University Heidelberg; Center for Human Genetics (J.K.), Freiburg; and the Institute of Neurogenetics (C.K.), University of Lübeck, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000000936DOI Listing
October 2014

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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http://link.springer.com/10.1007/s10545-012-9517-7
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http://dx.doi.org/10.1007/s10545-012-9517-7DOI Listing
May 2013

Syringomyelia in preterm children with posthemorrhagic occlusive hydrocephalus.

Childs Nerv Syst 2012 Dec 1;28(12):2153-6. Epub 2012 Aug 1.

Department of Neurosurgery, University Hospital RWTH Aachen, Aachen, Germany.

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http://link.springer.com/content/pdf/10.1007/s00381-012-1857
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http://link.springer.com/10.1007/s00381-012-1857-y
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http://dx.doi.org/10.1007/s00381-012-1857-yDOI Listing
December 2012

Brown-Vialetto-Van Laere syndrome: a riboflavin-unresponsive patient with a novel mutation in the C20orf54 gene.

Pediatr Neurol 2012 Jun;46(6):407-9

Department of General Pediatrics and Neonatology, University Children's Hospital, Düsseldorf, Germany.

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http://dx.doi.org/10.1016/j.pediatrneurol.2012.03.008DOI Listing
June 2012

ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.

Biochim Biophys Acta 2012 Jul 14;1822(7):1096-108. Epub 2012 Apr 14.

Academic Medical Center, Emma Children's Hospital, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, 1105 AZ Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.bbadis.2012.04.001DOI Listing
July 2012

Glucose transporter type 1 deficiency syndrome with carbohydrate-responsive symptoms but without epilepsy.

Dev Med Child Neurol 2011 Dec 12;53(12):1154-6. Epub 2011 Aug 12.

Department of General Paediatrics, University Children's Hospital, Düsseldorf, Germany.

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http://dx.doi.org/10.1111/j.1469-8749.2011.04082.xDOI Listing
December 2011

Cerebral angiopathies as a cause of ischemic stroke in children: differential diagnosis and treatment options.

Dtsch Arztebl Int 2010 Dec 3;107(48):851-6. Epub 2010 Dec 3.

Neurochirurgische Klinik, Universitäts-klinikum der Heinrich-Heine-Universität, Düsseldorf, Germany.

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http://dx.doi.org/10.3238/arztebl.2010.00851DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3004372PMC
December 2010

Increase of CSF tyrosine and impaired serotonin turnover in tyrosinemia type I.

Mol Genet Metab 2011 Feb 10;102(2):122-5. Epub 2010 Nov 10.

Department of General Pediatrics, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Moorenstrasse 5, Düsseldorf, Germany.

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http://dx.doi.org/10.1016/j.ymgme.2010.11.003DOI Listing
February 2011

Use of guidelines improves the neurological outcome in glutaric aciduria type I.

Ann Neurol 2010 Nov;68(5):743-52

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

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http://doi.wiley.com/10.1002/ana.22095
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http://dx.doi.org/10.1002/ana.22095DOI Listing
November 2010

Clinical reasoning: shuddering attacks in infancy.

Neurology 2008 Mar;70(13):e38-41

Department of General Pediatrics, Division of Paediatric Neurology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Moorenstr. 5, D-40225 Düsseldorf, Germany.

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http://www.neurology.org/content/70/13/e38.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/01.wnl.0000306698.7
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http://dx.doi.org/10.1212/01.wnl.0000306698.75592.6eDOI Listing
March 2008

Pseudotumor cerebri as an important differential diagnosis of papilledema in children.

Brain Dev 2006 Apr 20;28(3):190-5. Epub 2005 Dec 20.

Department of General Pediatrics, Heinrich-Heine-University Düsseldorf, Moorenstr. 5, D-40225 Düsseldorf, Germany.

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http://dx.doi.org/10.1016/j.braindev.2005.07.003DOI Listing
April 2006

Synthesis and metabolism of leukotrienes in gamma-glutamyl transpeptidase deficiency.

J Lipid Res 2004 May 1;45(5):900-4. Epub 2004 Feb 1.

Department of General Pediatrics, University Children's Hospital, Düsseldorf, Germany.

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http://dx.doi.org/10.1194/jlr.M300462-JLR200DOI Listing
May 2004

Approach to the diagnosis of neurotransmitter diseases exemplified by the differential diagnosis of childhood-onset dystonia.

Ann Neurol 2003 ;54 Suppl 6:S18-24

University Children's Hospital, Düsseldorf, D-69120 Germany.

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http://dx.doi.org/10.1002/ana.10628DOI Listing
December 2003

Selective decrease in central nervous system serotonin turnover in children with dopa-nonresponsive dystonia.

Pediatr Res 2002 Jul;52(1):91-4

Institute of Child Health, University College London, London WC1N 1EH, UK.

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http://dx.doi.org/10.1203/00006450-200207000-00017DOI Listing
July 2002