Publikationen Zentrum für Genetische Herz- und Gefäßerkrankungen


Batzner A, Aicha D, Pfeiffer B, Neugebauer A, Seggewiss H (2021)
Development of apical aneurysm in apical HCM.
European Heart Journal Cardiovascula Imaging 2021 May 10; 22(6): e74
Zur Publikation

Batzner A, Aicha D, Pfeiffer B, Neugebauer A, Seggewiss H (2021)
Sex-related differences in symptomatic patients with hypertrophic obstructive cardiomyopathy - Time for a new definition?
International Journal of Cardiology 2021 Apr 1; 328: 117-121
Zur Publikation

Bertero E, Nickel A, Kohlhaas M, Hohl M, Sequeira V, Brune C, Schwemmlein J, Abeßer M, Schuh K, Kutschka I, Carlein C, Münker K, Atighetchi S, Müller A, Kazakov A, Kappl R, von der Malsburg K, van der Laan M, Schiuma AF, Böhm M, Laufs U, Hoth M, Rehling P, Kuhn M, Dudek J, von der Malsburg A, Prates Roma L, Maack C (2021)
Loss of Mitochondrial Ca2+ Uniporter Limits Inotropic Reserve and Provides Trigger and Substrate for Arrhythmias in Barth Syndrome Cardiomyopathy.
Circulation 2021 Oct 13; 144(21): 1694-1713
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Brodehl A, Meshkov A, Myasnikov R, Kiseleva A, Kulikova O, Klauke B, Sotnikova E, Stanasiuk C, Divashuk M, Pohl GM, Kudryavtseva M, Klingel K, Gerull B, Zharikova A, Gummert J, Koretskiy S, Schubert S, Mershina E, Gärtner A, Pilus P, Laser KT, Sinitsyn V, Boytsov S, Drapkina O, Milting H (2021)
Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset.
International Journal of Molecular Sciences 2021 Apr 6; 22(7): 3786
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Cirnu A, Kolokotronis K, Walz K, Kilinç A, Janz A, Williams T, Busch A, Rost S, Gerull B (2021)
Novel Mutation in LOX Associates With a Complex Aneurysmal Vascular and Cardiac Phenotype.
Circulation: Genomic and Precision Medicine 2021 Feb 1; 14(1): e003217
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Gerull B, Brodehl A (2021)
Insights into Genetics and Pathophysiology of Arrhythmogenic Cardiomyopathy.
Current Heart Failure Reports 2021 Dec 1; 18(6): 378-390
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Gerull B (2021)
At Risk or Not at Risk – The Contribution of Clinical and Genetic Risk Factors to Atrial Fibrillation.
Canadian Journal of Cardiology 
2021 Jun; 37(6): 816-818
No abstract available
Zur Publikation

Janz A, Zink M, Cirnu A, Hartleb A, Albrecht C, Rost S, Klopocki E, Günther K, Edenhofer F, Ergün S, Gerull B (2021)
CRISPR/Cas9-edited PKP2 knock-out (JMUi001-A-2) and DSG2 knock-out (JMUi001-A-3) iPSC lines as an isogenic human model system of arrhythmogenic cardiomyopathy (ACM).
Stem Cell Research 2021 May; 53:102256
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Pelliccia F, Seggewiss H, Cecchi F, Calabrò P, Limongelli G, Alfieri O, Ferrazzi P, Yacoub MH, Olivotto I (2021)
Septal Ablation Versus Surgical Myomectomy for Hypertrophic Obstructive Cardiomyopathy.
Current Cardiology Reports 2021 Oct 1; 23(11): 165
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Seggewiss H, Batzner A (2021)
Surgical myectomy in HOCM: Still gold standard for septal reduction?
International Journal of Cardiology 2021 May 15; 331: 174-175
No abstract available
Zur Publikation

Sheldon RS, Gerull B (2021)
Genetic markers of vasovagal syncope.
Autonomic Neuroscience 2021 Nov; 235: 102871
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Batzner A, Seggewiss H, Faber L (2020)
Letter by Batzner et al Regarding Article, "Temporal Occurrence of Arrhythmic Complications After Alcohol Septal Ablation".
Circulation: Cardiovasc Interventions 2020 Mar; 13(3): e009031
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Batzner A, Seggewiß H (2020)
Hypertrophe Kardiomyopathie [Hypertrophic cardiomyopathy].
Herz 2020 May; 45(3): 233-242
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Bertero E, Kutschka I, Maack C, Dudek J (2020)
Cardiolipin remodeling in Barth syndrome and other hereditary cardiomyopathies.
Biochimica et Biophysica Acta (BBM) – Molecular Basis of Disease 2020 Aug 1; 1866(8): 165803
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Brodehl A, Weiss J, Debus JD, Stanasiuk C, Klauke B, Deutsch MA, Fox H, Bax J, Ebbinghaus H, Gärtner A, Tiesmeier J, Laser T, Peterschröder A, Gerull B, Gummert J, Paluszkiewicz L, Milting H (2020)
A homozygous DSC2 deletion associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomy.
Journal of Molecular and Cellular Cardiology 2020 Mar 19; 141: 17-29
Zur Publikation

Janz A, Chen R, Regensburger M, Ueda Y, Rost S, Klopocki E, Günther K, Edenhofer F, Duff JH, Ergün S, Gerull B (2020)
Generation of two patient-derived iPSC lines from siblings (LIBUCi001-A and LIBUCi002-A) and a genetically modified iPSC line (JMUi001-A-1) to mimic dilated cardiomyopathy with ataxia (DCMA) caused by a homozygous DNAJC19 mutation.
Stem Cell Research 2020 Jun 2; 46: 101856
Zur Publikation

Kolokotronis K, Pluta N, Klopocki E, Kunstmann E, Messroghli D, Maack C, Tejman-Yarden S, Arad M, Rost S, Gerull B (2020)
New Insights on Genetic Diagnostics in Cardiomyopathy and Arrhythmia Patients Gained by Stepwise Exome Data Analysis.
Journal of Clinical Medicine 2020 Jul 9; 9(7): 2168
Zur Publikation 

Loescher CM, Breitkreuz M, Li Y, Nickel A, Unger A, Dietl A, Schmidt A, Mohamed BA, Kotter S, Schmitt JP, Kruger M, Kruger M, Toischer K, Maack C, Leichert LI, Hamdani N and Linke WA (2020)
Regulation of titin-based cardiac stiffness by unfolded domain oxidation (UnDOx).
Proceedings of the National Academy of Sciences (PNAS) 2020 Sep 29; 117(39): 24545-24556
Zur Publikation

Pelliccia F, Alfieri O, Calabrò P, Cecchi F, Ferrazzi P, Gragnano F, Kaski JP, Limongelli G, Maron M, Rapezzi C, Seggewiss H, Yacoub MH, Olivotto I (2020)
Multidisciplinary evaluation and management of obstructive hypertrophic cardiomyopathy in 2020: Towards the HCM Heart Team.
International Journal of Cardiology 2020 Apr 1; 304: 86-92
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Seggewiss H, Batzner A (2020)
Alcohol septal ablation in obstructive hypertrophic cardiomyopathy is a safe procedure in experienced hands.
Revista Portuguesa Cardiologia 2020 Jun; 39(6): 305-307
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Veselka J, Faber L, Liebregts M, Cooper R, Januska J, Krejci J, Dabrowski M, Hansen PR, Seggewiss H, Horstkotte D, Hansvenclova E, Bundgaard H, Ten Berg J, Jensen MK (2020)
Long-term outcome of repeated septal reduction therapy after alcohol septal ablation for hypertrophic obstructive cardiomyopathy: insight from the Euro-ASA registry.
Archiv of Medical Science 2020 Aug 10; 16(5): 1239-1242
Zur Publikation

Veselka J, Jensen M, Liebregts M, Cooper RM, Januska J, Kashtanov M, Dabrowski M, Hansen PR, Seggewiss H, Hansvenclova E, Bundgaard H, Ten Berg J, Hilton Stables R, Faber L (2020)
Alcohol septal ablation in patients with severe septal hypertrophy.
Heart 2020 Mar; 106(6): 462-466
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Abdelfatah N, Chen R, Duff HJ, Seifer CM, Buffo I, Huculak C, Clarke S, Clegg R, Jassal DS, Gordon PMK, Ober C, Frosk P and Gerull B. (2019)
Characterization of a Unique Form of Arrhythmic Cardiomyopathy Caused by Recessive Mutation in LEMD2.
JACC: Basic to Translational Science. 2019; 4(2): 204-221
Zur Publikation

Brodehl A, Rezazadeh S, Williams T, Munsie NM, Liedtke D, Oh T, Ferrier R, Shen Y, Jones SJM, Stiegler AL, Boggon TJ, Duff HJ, Friedman JM, Gibson WT; FORGE Canada Consortium, Childs SJ, Gerull B. (2019)
Mutations in ILK, encoding integrin- linked kinase, are associated with arrhythmogenic cardiomyopathy.
Translational Research 2019 Jun 15; 208: 15-29
Zur Publikation 

Brodehl A, Pour Hakimi SA, Stanasiuk C, Ratnavadivel S, Hendig D, Gaertner A, Gerull B, Gummert J, Paluszkiewicz L, Milting H. (2019)
Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (DES) Mutation p.Y122H Leading to a Severe Filament Assembly Defect.
Genes (Basel) 2019 Nov 11; 10(11) E918
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Kolokotronis K, Kühnisch J, Klopocki E, Dartsch J, Rost S, Huculak C, Mearini G, Störk S, Carrier L, Klaassen S, Gerull B. (2019)
Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular non-compaction phenotype.
Human Mutation 2019 Aug; 40(8): 1101-1114
Zur Publikation

Kühnisch J, Herbst C, Al-Wakeel-Marquard N, Dartsch J, Holtgrewe M, Baban A, Mearini G, Hardt J, Kolokotronis K, Gerull B, Carrier L, Beule D, Schubert S, Messroghli D, Degener F, Berger F, Klaassen S. (2019)
Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3.
Clinical Genetics 2019 Dec; 96(6): 549-559
Zur Publikation

Sacchetto C, Sequeira V, Bertero E, Dudek J, Maack C, Calore M. J Clin Med (2019)
Metabolic Alterations in Inherited Cardiomyopathies.
2019 Dec 12; 8(12): 2195
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Sequeira V, Bertero E and Maack C. (2019)
Energetic drain driving hypertrophic cardiomyopathy.
FEBS Letters 2019 Jul; 593: 1616-1626
Zur Publikation

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