Publications by authors named "Christoph Marschall"

15Publications

Two siblings with early repolarization syndrome: clinical and genetic characterization by whole-exome sequencing.

Authors:
Johannes Steinfurt Connie R Bezzina Jürgen Biermann Dawid Staudacher Christoph Marschall Luca Trolese Thomas S Faber Daniel Duerschmied Manfred Zehender Christoph Bode Arthur A M Wilde Katja E Odening Elisabeth M Lodder

Europace 2020 Dec 16. Epub 2020 Dec 16.

Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Heart Center, Amsterdam, The Netherlands.

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December 2020

Novel variants in TECRL cause recessive inherited CPVT type 3 with severe and variable clinical symptoms.

Authors:
Alexander Moscu-Gregor Christoph Marschall Carsten Müntjes Anne Schönecker Franziska Schuessler-Hahn Felix Hohendanner Abdul Shokor Parwani Leif-Hendrik Boldt Claus-Eric Ott Anja Bennewiz Thomas Paul Ulrich Krause Imma Rost

J Cardiovasc Electrophysiol 2020 Jun 22;31(6):1527-1535. Epub 2020 Mar 22.

Department of Molecular Genetics, MVZ Martinsried GmbH, Martinsried, Germany.

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June 2020

Variant panorama in 1,385 index patients and sensitivity of expanded next-generation sequencing panels in arrhythmogenic disorders.

Authors:
Christoph Marschall Alexander Moscu-Gregor Hanns-Georg Klein

Cardiovasc Diagn Ther 2019 Oct;9(Suppl 2):S292-S298

Center for Human Genetics and Laboratory Diagnostics, Martinsried, Germany.

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October 2019

Genetic basis of hypertrophic cardiomyopathy in children.

Authors:
Stefan Rupp Moataz Felimban Anne Schänzer Dietmar Schranz Christoph Marschall Martin Zenker Thushiha Logeswaran Christoph Neuhäuser Josef Thul Christian Jux Andreas Hahn

Clin Res Cardiol 2019 Mar 13;108(3):282-289. Epub 2018 Aug 13.

Department of Child Neurology, Justus-Liebig University, Giessen, Germany.

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March 2019

Rare co-occurrence of osteogenesis imperfecta type I and autosomal dominant polycystic kidney disease.

Authors:
Julia Hoefele Karin Mayer Christoph Marschall Martin Alberer Hanns-Georg Klein Martin Kirschstein

World J Pediatr 2016 Nov 8;12(4):501-503. Epub 2016 Apr 8.

Department of Pediatrics, General Hospital, Celle, Germany.

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November 2016

Pharmacological Provocation of Outflow-Tract Tachycardia in a Patient With Brugada Syndrome.

Authors:
Gerd Bürkle Henry Schäfer Christoph Marschall Pedro Brugada Joachim R Ehrlich

Can J Cardiol 2016 12 1;32(12):1577.e5-1577.e7. Epub 2016 Feb 1.

Cardiology, St Josefs-Hospital, Wiesbaden, Germany. Electronic address:

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December 2016

Elevated heart rate triggers action potential alternans and sudden death. translational study of a homozygous KCNH2 mutation.

Authors:
Ulrich Schweigmann Peter Biliczki Rafael J Ramirez Christoph Marschall Ina Takac Ralf P Brandes Dieter Kotzot Zenawit Girmatsion Stefan H Hohnloser Joachim R Ehrlich

PLoS One 2014 20;9(8):e103150. Epub 2014 Aug 20.

Division of Clinical Electrophysiology, Goethe University, Frankfurt, Germany; Div. of Cardiology, Deutsche Klinik für Diagnostik, Wiesbaden, Germany.

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May 2015

Ryanodine receptor mutations presenting as idiopathic ventricular fibrillation: a report on two novel familial compound mutations, c.6224T>C and c.13781A>G, with the clinical presentation of idiopathic ventricular fibrillation.

Authors:
Christian Paech Roman Antonin Gebauer Jens Karstedt Christoph Marschall Andreas Bollmann Daniela Husser

Pediatr Cardiol 2014 Dec 21;35(8):1437-41. Epub 2014 Jun 21.

Department for Pediatric Cardiology, University of Leipzig-Heart Center, Strümpellstrasse 39, 04289, Leipzig, Germany,

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December 2014

Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders.

Authors:
Miriam S Reuter Georg C Schwabe Christian Ehlers Christoph Marschall André Reis Christian Thiel Luitgard Graul-Neumann

Eur J Med Genet 2013 Dec 17;56(12):669-73. Epub 2013 Oct 17.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Schwabachanlage 10, 91054 Erlangen, Germany. Electronic address:

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December 2013

Genotype and laboratory and clinical phenotypes of protein s deficiency.

Authors:
Sebastian Duebgen Teresa Kauke Christoph Marschall Andreas Giebl Susanne Lison Christina Hart Andrea Dick Michael Spannagl

Am J Clin Pathol 2012 Feb;137(2):178-84

Hemostasis Outpatient Clinics, Munich University Hospital, Ziemssenstrasse 1, Munich, Germany.

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February 2012

A presumably benign human ether-a-go-go-related gene mutation (R176W) with a malignant primary manifestation of long QT syndrome.

Authors:
Birgit C Donner Christoph Marschall Christoph Marshall Klaus G Schmidt

Cardiol Young 2012 Jun 9;22(3):360-3. Epub 2011 Nov 9.

Department of Paediatric Cardiology and Pneumology, University Childrens' Hospital, Duesseldorf, Germany.

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June 2012

The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.

Authors:
Melissa Yana Frédéric Christine Monino Christoph Marschall Dalil Hamroun Laurence Faivre Guillaume Jondeau Hanns-Georg Klein Luitgard Neumann Elodie Gautier Christine Binquet Cheryl Maslen Maurice Godfrey Prateek Gupta Dianna Milewicz Catherine Boileau Mireille Claustres Christophe Béroud Gwenaëlle Collod-Béroud

Hum Mutat 2009 Feb;30(2):181-90

INSERM, U827, Montpellier, F-34000 France.

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February 2009

Cellular properties of C-terminal KCNH2 long QT syndrome mutations: description and divergence from clinical phenotypes.

Authors:
Peter Biliczki Zenawit Girmatsion Sabine Harenkamp Lars Anneken Ralf P Brandes Andras Varro Christoph Marschall Daniel Herrera Stefan H Hohnloser Stanley Nattel Joachim R Ehrlich

Heart Rhythm 2008 Aug 22;5(8):1159-67. Epub 2008 Apr 22.

Division of Cardiology, Section of Electrophysiology, JW Goethe-Universität, Frankfurt, Germany.

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August 2008

[Brugada syndrome, a rare cause of syncope].

Authors:
Holger Auerbach Ralf Blank Katharina Jank Gerian Grönefeld Thomas Klingenheben Christoph Marschall Hans-Jürgen von Mengden

Med Klin (Munich) 2005 Jun;100(6):361-4

Medizinische Klinik, GPR-Klinikum Rüsselsheim, Akademisches Lehrkrankenhaus der Universität, Mainz.

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June 2005

Triple helix-mediated inhibition of gene expression is increased by PUVA.

Authors:
Robert Besch Christoph Marschall Theda Schuh Carine Giovannangeli Claudia Kammerbauer Klaus Degitz

J Invest Dermatol 2004 May;122(5):1114-20

Department of Dermatology, Ludwig-Maximilians University, München, Germany.

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May 2004