Reginald E Bittner

The bradycardic agent ivabradine decreases conduction velocity in the AV node and in the ventricles in-vivo.

Authors:

Daniel Amstetter Florian Badt Lena Rubi Reginald E Bittner Janine Ebner Pavel Uhrin Karlheinz Hilber Xaver Koenig Hannes Todt

Eur J Pharmacol 2021 Feb 18;893:173818. Epub 2020 Dec 18.

Center for Physiology and Pharmacology, Department of Neurophysiology and Neuropharmacology, Medical University of Vienna, Vienna, Austria. Electronic address:

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February 2021

Impaired muscle spindle function in murine models of muscular dystrophy.

Authors:

Laura Gerwin Sarah Rossmanith Corinna Haupt Jürgen Schultheiß Heinrich Brinkmeier Reginald E Bittner Stephan Kröger

J Physiol 2020 04 21;598(8):1591-1609. Epub 2020 Feb 21.

Department of Physiological Genomics, Biomedical Center, Ludwig-Maximilians-University, Großhaderner Str. 9, D-82152, Planegg-Martinsried, Germany.

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April 2020

Long-term outcomes in a 25-year-old female affected with lipin-1 deficiency.

Authors:

Karolina M Stepien Wolfgang M Schmidt Reginald E Bittner Orna O'Toole Brian McNamara Eileen P Treacy

JIMD Rep 2019 Mar 14;46(1):4-10. Epub 2019 Mar 14.

University College Dublin Dublin Ireland.

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March 2019

Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome).

Genet Med 2019 10 3;21(10):2355-2363. Epub 2019 Apr 3.

PEDEGO Research Unit and Medical Research Centre Oulu, University of Oulu and Oulu University Hospital, Oulu, Finland.

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October 2019

Evidence of mild founder mutations causing nemaline myopathy 10 in Germany and Austria.

Authors:

Ulrich A Schatz Simone Weiss Stephan Wenninger Benedikt Schoser Wolfgang H Muss Reginald E Bittner Wolfgang M Schmidt Anna S Schossig Sabine Rudnik-Schöneborn Matthias Baumann

Neurology 2018 10 5;91(18):e1690-e1694. Epub 2018 Oct 5.

From the Department of Human Genetics (UA.S., AS.S., S.R.), Department of Pediatrics (M.B.), Medical University Innsbruck, Austria; Department of Pediatrics, Kaiser Franz Josef Hospital, Vienna, Austria (S.W.); Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University Munich, Germany (St.W., B.S.); Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität Munich, Germany (UA.S., AS.S.); Institute of Pathology, SALK-LKH and PMU (Paracelsus Medical University) Salzburg, Austria (WH.M, retired); Neuromuscular Research Department, Center for Anatomy and Cell Biology, Medical University of Vienna, Austria (RE.B., WM.S.).

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October 2018

IMAGING OF VITELLIFORM MACULAR LESIONS USING POLARIZATION-SENSITIVE OPTICAL COHERENCE TOMOGRAPHY.

Authors:

Gábor G Deák Wolfgang M Schmidt Reginald E Bittner Georgios Mylonas Philipp K Roberts Stefan Zotter Bernhard Baumann Michael Pircher Christoph K Hitzenberger Ursula M Schmidt-Erfurth Markus Ritter

Retina 2019 Mar;39(3):558-569

Department of Ophthalmology, Medical University of Vienna, Vienna, Austria.

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March 2019

Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation.

Authors:

Matthias Baumann Elisabeth Steichen-Gersdorf Birgit Krabichler Britt-Sabina Petersen Ulrike Weber Wolfgang M Schmidt Johannes Zschocke Thomas Müller Reginald E Bittner Andreas R Janecke

Eur J Hum Genet 2017 02 26;25(2):262-266. Epub 2016 Oct 26.

Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.

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February 2017

Acute decompensated heart failure associated with a heteroplasmic 3243A > G mitochondrial DNA point mutation.

Authors:

Johann Auer Manfred Wallner Martin Windpessl Wolfgang M Schmidt Reginald E Bittner Ramin Baradaran-Dilmaghani Robert Berent

Eur Heart J 2016 06 3;37(21):1707. Epub 2016 Mar 3.

HerzReha Bad Ischl, Center of Cardiovascular Rehabilitation Bad Ischl, Bad Ischl, Austria.

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June 2016

Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia.

Authors:

Wolfgang M Schmidt S Lane Rutledge Rebecca Schüle Benjamin Mayerhofer Stephan Züchner Eugen Boltshauser Reginald E Bittner

Am J Hum Genet 2015 Dec 12;97(6):855-61. Epub 2015 Nov 12.

Neuromuscular Research Department, Center of Anatomy and Cell Biology, Medical University of Vienna, 1090 Vienna, Austria. Electronic address:

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December 2015

A novel therapeutic approach for LPIN1 mutation-associated rhabdomyolysis--The Austrian experience.

Authors:

Karin Pichler Sabine Scholl-Buergi Robert Birnbacher Michael Freilinger Simon Straub Jürgen Brunner Johannes Zschocke Reginald E Bittner Daniela Karall

Muscle Nerve 2015 Sep 24;52(3):437-9. Epub 2015 Jul 24.

Department of Pediatrics, Clinic for Pediatrics I, Medical University of Innsbruck, Anichstrasse 35, A-6020, Innsbruck, Austria.

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September 2015

Enhanced currents through L-type calcium channels in cardiomyocytes disturb the electrophysiology of the dystrophic heart.

Authors:

Xaver Koenig Lena Rubi Gerald J Obermair Rene Cervenka Xuan B Dang Peter Lukacs Stefan Kummer Reginald E Bittner Helmut Kubista Hannes Todt Karlheinz Hilber

Am J Physiol Heart Circ Physiol 2014 Feb 13;306(4):H564-H573. Epub 2013 Dec 13.

Center for Physiology and Pharmacology, Medical University of Vienna, Vienna, Austria.

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February 2014

Characterization of stargardt disease using polarization-sensitive optical coherence tomography and fundus autofluorescence imaging.

Authors:

Markus Ritter Stefan Zotter Wolfgang M Schmidt Reginald E Bittner Gabor G Deak Michael Pircher Stefan Sacu Christoph K Hitzenberger Ursula M Schmidt-Erfurth

Invest Ophthalmol Vis Sci 2013 Sep 27;54(9):6416-25. Epub 2013 Sep 27.

Department of Ophthalmology, Medical University of Vienna, Vienna, Austria.

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September 2013

Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.

Authors:

Simone Rost Elisa Bach Cordula Neuner Indrajit Nanda Sandra Dysek Reginald E Bittner Alexander Keller Oliver Bartsch Robert Mlynski Thomas Haaf Clemens R Müller Erdmute Kunstmann

Eur J Hum Genet 2014 Feb 29;22(2):208-15. Epub 2013 May 29.

Department of Human Genetics, University of Würzburg, Würzburg, Germany.

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February 2014

Targeted disruption of Hspa4 gene leads to cardiac hypertrophy and fibrosis.

Authors:

Belal A Mohamed Amal Z Barakat Wolfram-Hubertus Zimmermann Reginald E Bittner Christian Mühlfeld Mark Hünlich Wolfgang Engel Lars S Maier Ibrahim M Adham

J Mol Cell Cardiol 2012 Oct 1;53(4):459-68. Epub 2012 Aug 1.

Institute of Human Genetics, University of Göttingen, Germany.

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October 2012

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.

Am J Hum Genet 2012 Feb 19;90(2):201-16. Epub 2012 Jan 19.

Department of Paediatrics IV - Neonatology, Paediatric Neurology and Inherited Metabolic Disorders, Innsbruck Medical University, Austria.

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February 2012

Voltage-gated ion channel dysfunction precedes cardiomyopathy development in the dystrophic heart.

Authors:

Xaver Koenig Sandra Dysek Stefanie Kimbacher Agnes K Mike Rene Cervenka Peter Lukacs Katrin Nagl Xuan B Dang Hannes Todt Reginald E Bittner Karlheinz Hilber

PLoS One 2011 23;6(5):e20300. Epub 2011 May 23.

Center for Physiology and Pharmacology, Department of Neurophysiology and Pharmacology, Medical University of Vienna, Vienna, Austria.

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September 2011

DNA damage, somatic aneuploidy, and malignant sarcoma susceptibility in muscular dystrophies.

Authors:

Wolfgang M Schmidt Mohammed H Uddin Sandra Dysek Karin Moser-Thier Christine Pirker Harald Höger Inge M Ambros Peter F Ambros Walter Berger Reginald E Bittner

PLoS Genet 2011 Apr 14;7(4):e1002042. Epub 2011 Apr 14.

Neuromuscular Research Department, Center of Anatomy and Cell Biology, Medical University of Vienna, Vienna, Austria.

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April 2011

SNP-array based whole genome homozygosity mapping: a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients.

Authors:

Lea Papić Dirk Fischer Slave Trajanoski Romana Höftberger Carina Fischer Thomas Ströbel Wolfgang M Schmidt Reginald E Bittner Maria Schabhüttl Karin Gruber Thomas R Pieber Andreas R Janecke Michaela Auer-Grumbach

Eur J Med Genet 2011 May-Jun;54(3):214-9. Epub 2010 Dec 21.

Department of Internal Medicine, Division of Diabetes and Metabolism, Medical University of Graz, Auenbruggerplatz 15, 8036 Graz, Austria.

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September 2011

Aberrant development of neuromuscular junctions in glycosylation-defective Large(myd) mice.

Authors:

Ruth Herbst Thomas Iskratsch Ewald Unger Reginald E Bittner

Neuromuscul Disord 2009 May 5;19(5):366-78. Epub 2009 Apr 5.

Center for Brain Research, Medical University of Vienna, Vienna, Austria.

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May 2009

The susceptibility to experimental autoimmune encephalomyelitis is not related to dysferlin-deficiency.

Authors:

Sonja Hochmeister Reginald E Bittner Harald Höger Hans Lassmann Monika Bradl

Autoimmunity 2009 Mar;42(3):235-41

Department of Neuroimmunology, Center for Brain Reseach, Medical University Vienna, Austria.

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March 2009

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