Publications by authors named "Michael Zech"

42Publications

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 Nov;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

Familial writer's cramp: a clinical clue for inherited coenzyme Q deficiency.

Neurogenetics 2020 Aug 24. Epub 2020 Aug 24.

Center for Rare Neurological Diseases, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.

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http://dx.doi.org/10.1007/s10048-020-00624-3DOI Listing
August 2020

Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier.

Parkinsonism Relat Disord 2020 Aug 29;77:87-88. Epub 2020 Jun 29.

Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.

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http://dx.doi.org/10.1016/j.parkreldis.2020.06.028DOI Listing
August 2020

Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.

Parkinsonism Relat Disord 2020 Aug 29;77:70-75. Epub 2020 Jun 29.

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

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http://dx.doi.org/10.1016/j.parkreldis.2020.06.027DOI Listing
August 2020

Spatial and temporal H and O isotope variation of contemporary precipitation in the Bale Mountains, Ethiopia.

Isotopes Environ Health Stud 2020 May 3;56(2):122-135. Epub 2020 Feb 3.

Institute of Agronomy and Nutritional Sciences, Soil Biogeochemistry, Martin Luther University Halle-Wittenberg, Halle, Germany.

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http://dx.doi.org/10.1080/10256016.2020.1717487DOI Listing
May 2020

Update on KMT2B-Related Dystonia.

Curr Neurol Neurosci Rep 2019 11 25;19(11):92. Epub 2019 Nov 25.

Institut für Neurogenomik, Helmholtz Zentrum München, Ingolstädter Landstraße 1, 85764, Munich, Neuherberg, Germany.

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http://dx.doi.org/10.1007/s11910-019-1007-yDOI Listing
November 2019

Phenolic Compounds as Unambiguous Chemical Markers for the Identification of Keystone Plant Species in the Bale Mountains, Ethiopia.

Plants (Basel) 2019 Jul 16;8(7). Epub 2019 Jul 16.

Institute of Agronomy and Nutritional Sciences, Soil Biogeochemistry, Martin Luther University Halle-Wittenberg, Von-Seckendorff-Platz 3, D-06120 Halle, Germany.

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http://dx.doi.org/10.3390/plants8070228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6681346PMC
July 2019

Sauna, sweat and science II - do we sweat what we drink?

Isotopes Environ Health Stud 2019 Aug 30;55(4):394-403. Epub 2019 Jun 30.

a Department of Soil Biogeochemistry, Institute of Agronomy and Nutritional Sciences, Martin Luther University of Halle-Wittenberg , Halle , Germany.

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http://dx.doi.org/10.1080/10256016.2019.1635125DOI Listing
August 2019

Treatment of cervical dystonia with abo- and onabotulinumtoxinA: long-term safety and efficacy in daily clinical practice.

J Neurol 2019 Aug 2;266(8):1879-1886. Epub 2019 May 2.

Department of Neurology, Klinikum rechts der Isar, Technische Universität München, Ismaninger Strasse 22, 81675, Munich, Germany.

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http://dx.doi.org/10.1007/s00415-019-09349-2DOI Listing
August 2019

[Exome diagnostics in neurology].

Nervenarzt 2019 Feb;90(2):131-137

Institut für Neurogenomik, Helmholtz Zentrum München, München, Deutschland.

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http://link.springer.com/10.1007/s00115-018-0667-1
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http://dx.doi.org/10.1007/s00115-018-0667-1DOI Listing
February 2019

Ataxia Telangiectasia Gene Mutation in Isolated Segmental Dystonia Without Ataxia and Telangiectasia.

Mov Disord Clin Pract 2018 Jan-Feb;5(1):89-91. Epub 2017 Dec 3.

Department of Neurology and Center of Clinical Neuroscience First Faculty of Medicine Charles University and General Faculty Hospital Prague Czech Republic.

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http://dx.doi.org/10.1002/mdc3.12564DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6090590PMC
December 2017

Elective frozen-thawed embryo transfer (FET) in women at risk for ovarian hyperstimulation syndrome.

Reprod Biol 2018 Mar 24;18(1):46-52. Epub 2017 Dec 24.

Department of Medical Statistics, Informatics and Health Economics, Medical University of Innsbruck, Schoepfstrasse 41, 6020 Innsbruck, Austria.

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http://dx.doi.org/10.1016/j.repbio.2017.12.004DOI Listing
March 2018

Microstructural white matter abnormalities in patients with COL6A3 mutations (DYT27 dystonia).

Parkinsonism Relat Disord 2018 01 14;46:74-78. Epub 2017 Oct 14.

Department of Neurology, Klinikum Rechts der Isar, Technische Universität München, Ismaninger Strasse 22, 81675 München, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2017.10.008DOI Listing
January 2018

KMT2B rare missense variants in generalized dystonia.

Mov Disord 2017 Jul 18;32(7):1087-1091. Epub 2017 May 18.

Institut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany.

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http://dx.doi.org/10.1002/mds.27026DOI Listing
July 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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http://dx.doi.org/10.1016/j.ajhg.2016.10.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142117PMC
December 2016

Systematic TOR1A non-c.907_909delGAG variant analysis in isolated dystonia and controls.

Parkinsonism Relat Disord 2016 10 25;31:119-123. Epub 2016 Jul 25.

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

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http://dx.doi.org/10.1016/j.parkreldis.2016.07.013DOI Listing
October 2016

The clinical phenotype of early-onset isolated dystonia caused by recessive COL6A3 mutations (DYT27).

Mov Disord 2016 05 21;31(5):747-50. Epub 2015 Dec 21.

Department of Neurology, Klinikum rechts der Isar Technical University Munich, Munich, Germany.

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http://dx.doi.org/10.1002/mds.26501DOI Listing
May 2016

A novel methylation derivatization method for δ(18)O analysis of individual carbohydrates by gas chromatography/pyrolysis-isotope ratio mass spectrometry.

Rapid Commun Mass Spectrom 2016 Jan;30(1):221-9

Laboratory of Atmospheric Chemistry, Paul Scherrer Institute, PSI, CH-5232, Villigen, Switzerland.

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http://dx.doi.org/10.1002/rcm.7431DOI Listing
January 2016

TOR1A, THAP1, and GNAL mutational screening in Austrian patients with primary isolated dystonia.

Mov Disord 2015 Nov 28;30(13):1853-4. Epub 2015 Oct 28.

Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.

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http://dx.doi.org/10.1002/mds.26458DOI Listing
November 2015

Large-scale TUBB4A mutational screening in isolated dystonia and controls.

Parkinsonism Relat Disord 2015 Oct 20;21(10):1278-81. Epub 2015 Aug 20.

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

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http://dx.doi.org/10.1016/j.parkreldis.2015.08.017DOI Listing
October 2015

Do n-alkane biomarkers in soils/sediments reflect the δ²H isotopic composition of precipitation? A case study from Mt. Kilimanjaro and implications for paleoaltimetry and paleoclimate research.

Isotopes Environ Health Stud 2015 8;51(4):508-24. Epub 2015 Jul 8.

a Department of Soil Physics , Chair of Geomorphology and Institute of Soil Science and Soil Geography, University of Bayreuth , Bayreuth , Germany.

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http://dx.doi.org/10.1080/10256016.2015.1058790DOI Listing
September 2016

Sauna, sweat and science - quantifying the proportion of condensation water versus sweat using a stable water isotope ((2)H/(1)H and (18)O/(16)O) tracer experiment.

Isotopes Environ Health Stud 2015 25;51(3):439-47. Epub 2015 Jun 25.

a Department of Soil Physics and Chair of Geomorphology , University of Bayreuth , Bayreuth , Germany.

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http://dx.doi.org/10.1080/10256016.2015.1057136DOI Listing
June 2016

Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.

Am J Hum Genet 2015 Jun 21;96(6):883-93. Epub 2015 May 21.

Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, 81675 Munich, Germany; Department of Neurology and Neurological Sciences and Center for Sleep Sciences and Medicine, Stanford University School of Medicine, Palo Alto, CA 94304, USA; Institut für Humangenetik, Helmholtz Zentrum München, 85764 Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, 81377 Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.04.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4457951PMC
June 2015

Reply to letter: Novel compound heterozygous mutations in PRKRA cause pure dystonia.

Mov Disord 2015 May 25;30(6):878-9. Epub 2015 Apr 25.

Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.

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http://dx.doi.org/10.1002/mds.26233DOI Listing
May 2015

Stable hydrogen and carbon isotope ratios of methoxyl groups during plant litter degradation.

Isotopes Environ Health Stud 2015 23;51(1):143-54. Epub 2015 Feb 23.

a Institute of Earth Sciences , University of Heidelberg , Heidelberg , Germany.

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http://dx.doi.org/10.1080/10256016.2015.1013540DOI Listing
January 2016

DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family.

Mov Disord 2014 Oct 20;29(12):1504-10. Epub 2014 Aug 20.

Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany; Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany.

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http://dx.doi.org/10.1002/mds.25981DOI Listing
October 2014

Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders.

PLoS One 2013 30;8(12):e82879. Epub 2013 Dec 30.

Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany ; Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany ; Institut für Humangenetik, Technische Universität München, Munich, Germany ; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany ; Department of Neurology and Neurological Sciences and Center for Sleep Sciences and Medicine, Stanford University School of Medicine, Palo Alto, California, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0082879PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3875432PMC
September 2014

A novel methodological approach for δ(18)O analysis of sugars using gas chromatography-pyrolysis-isotope ratio mass spectrometry.

Isotopes Environ Health Stud 2013 ;49(4):492-502

a Department of Soil Physics and Chair of Geomorphology , University of Bayreuth , Bayreuth , Germany.

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http://dx.doi.org/10.1080/10256016.2013.824875DOI Listing
August 2014

Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.

Mov Disord 2014 Jan 22;29(1):143-7. Epub 2013 Oct 22.

Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany; Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany.

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http://dx.doi.org/10.1002/mds.25715DOI Listing
January 2014

Compound-specific delta18O analyses of neutral sugars in soils using gas chromatography-pyrolysis-isotope ratio mass spectrometry: problems, possible solutions and a first application.

Rapid Commun Mass Spectrom 2009 Nov;23(22):3522-32

Chair of Geomorphology, University of Bayreuth, Universitätsstr. 30, 95440 Bayreuth, Germany.

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http://dx.doi.org/10.1002/rcm.4278DOI Listing
November 2009

Improved compound-specific delta13C analysis of n-alkanes for application in palaeoenvironmental studies.

Rapid Commun Mass Spectrom 2008 ;22(2):135-42

Institute of Soil Science and Soil Geography, University of Bayreuth, D-95445 Bayreuth, Germany.

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http://dx.doi.org/10.1002/rcm.3342DOI Listing
April 2008