Publikationen Zentrum für Genetische Herz- und Gefäßerkrankungen

Nagler S, Ghoreishi Y, Kollmann C, Kelm M, Gerull B, Waschke J, Burkard N, Schlegel N (2023)
Plakophilin 2 regulates intestinal barrier function by modulating protein kinase C activity in vitro.
Tissue Barriers 2023 Oct 2: 11(4): 2138061
Zur Publikation

Batzner A, Aicha D, Pfeiffer B, Neugebauer A, Seggewiss H (2022)
Age-related survival after alcohol septal ablation in hypertrophic obstructive cardiomyopathy.
ESC Heart Failure 2022 Feb; 9(1): 327-336
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Bertero E, Dudek J, Cochain C, Delgobo M, Ramos G, Gerull B, Higuchi T, Vaeth M, Zernecke A, Frantz S, Hofmann U, Maack C (2022)
Immuno-metabolic interfaces in cardiac disease and failure.
Cardiovascular Research 2022 Jan 7; 118(1): 37-52
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Bertero E, Maack C (2022)
Rethinking Mitchell's Chemiosmotic Theory: Potassium Dominates Over Proton Flux to Drive Mitochondrial F1Fo-ATP Synthase.
Function (Oxford) 2022 Mar 9; 3(2): zqac012.
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Bertero E, Robusto F, Rulli E, D'Ettorre A, Bisceglia L, Staszewsky L, Maack C, Lepore V, Latini R, Ameri P (2022)
Cancer Incidence and Mortality According to Pre-Existing Heart Failure in a Community-Based Cohort. 
JACC CardioOncology 2022 Jan 18; 4(1): 98-109
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Bețiu AM, Noveanu L, Hâncu IM, Lascu A, Petrescu L, Maack C, Elmér E, Muntean DM (2022)
Mitochondrial Effects of Common Cardiovascular Medications: The Good, the Bad and the Mixed.
International Journal of Molecular Sciences 2022 Nov 7; 23(21): 13653
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Brodehl A, Gerull B (2022)
Genetic Insights into Primary Restrictive Cardiomyopathy.
Journal of Clinical Medicine 2022 Apr 8; 11(8): 2094
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Cruz-Garcia Y, Barkovits K, Kohlhaas M, Pickel S, Gulentz M, Heindl C, Pfeiffer K, Eder-Negrin P, Maack C, Marcus K, Kuhn M, Miranda-Laferte E (2022)
Nanoenviroments of the β-Subunit of L-Type Voltage-Gated Calcium Channels in Adult Cardiomyocytes.
Frontiers in Cell and Developmental Biology 2022 Jan 3; 9: 724778
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Donnarumma E, Kohlhaas M, Vimont E, Kornobis E, Chaze T, Gianetto QG, Matondo M, Moya-Nilges M, Maack C, Wai T (2022)
Mitochondrial Fission Process 1 controls inner membrane integrity and protects against heart failure.
Nature Communications 2022 Nov 4; 13(1): 6634
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Dudek J, Bertero E, Maack C (2022)
The integrated stress response to the rescue of the starved heart.
Cardiovascular Research 2022 Dec 29; 118(16): 3166-3168
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Dudek J, Maack C (2022)
Grandfather's moonlighting: hydralazine's novel liaison with mitochondria.
Cardiovascular Research 2022 Jan 7; 118(1): 13-15
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Dudek J, Maack C (2022)
Mechano-energetic aspects of Barth syndrome. 
Journal of Inherited Metabolism Disease 2022 Jan; 45(1): 82-98
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Godsman N, Kohlhaas M, Nickel A, Cheyne L, Mingarelli M, Schweiger L, Hepburn C, Munts C, Welch A, Delibegovic M, Van Bilsen M, Maack C, Dawson DK (2022)
Metabolic alterations in a rat model of takotsubo syndrome.
Cardiovascular Research 2022 Jun 29; 118(8): 1932-1946
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Kayvanpour E, Wisdom M, Lackner MK, Sedaghat-Hamedani F, Boeckel JN, Müller M, Eghbalian R, Dudek J, Doroudgar S, Maack C, Frey N, Meder B (2022)
VARS2 Depletion Leads to Activation of the Integrated Stress Response and Disruptions in Mitochondrial Fatty Acid Oxidation. 
International Journal of Molecular Sciendes 2022 Jun 30; 23(13): 7327
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Ljubojević-Holzer S, Kraler S, Djalinac N, Abdellatif M, Voglhuber J, Schipke J, Schmidt M, Kling KM, Franke GT, Herbst V, Zirlik A, von Lewinski D, Scherr D, Rainer PP, Kohlhaas M, Nickel A, Mühlfeld C, Maack C, Sedej S (2022)
Loss of autophagy protein ATG5 impairs cardiac capacity in mice and humans through diminishing mitochondrial abundance and disrupting Ca2+ cycling.
Cardiovascular Research 2022 May 6; 118(6):  1492-1505.
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Lopes LR, Losi MA, Sheikh N, Laroche C, Charron P, Gimeno J, Kaski JP, Maggioni AP, Tavazzi L, Arbustini E, Brito D, Celutkiene J, Hagege A, Linhart A, Mogensen J, Garcia-Pinilla JM, Ripoll-Vera T, Seggewiss H, Villacorta E, Caforio A, Elliott PM; Cardiomyopathy Registry Investigators Group (2022)
Association between common cardiovascular risk factors and clinical phenotype in patients with hypertrophic cardiomyopathy from the European Society of Cardiology (ESC) EurObservational Research Programme (EORP) Cardiomyopathy/Myocarditis registry.
European Heart Journal – Quality of Care & Clinical Outcomes 2022 Dec 13; 9(1): 42-53
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Maack C, Tardiff JC (2022)
Targeted therapies for cardiac diseases.
Nature Reviews Cardiology 2022 Jun; 19(6): 343-344
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Paulus MG, Renner K, Nickel AG, Brochhausen C, Limm K, Zügner E, Baier MJ, Pabel S, Wallner S, Birner C, Luchner A, Magnes C, Oefner PJ, Stark KJ, Wagner S, Maack C, Maier LS, Streckfuss-Bömeke K, Sossalla S, Dietl A (2022)
Tachycardiomyopathy entails a dysfunctional pattern of interrelated mitochondrial functions.
Basic Research in Cardiology 2022 Sep 6; 117(1): 45
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Schwemmlein J, Maack C, Bertero E (2022)
Mitochondria as Therapeutic Targets in Heart Failure. Current Heart Failure Reports 2022 Apr; 19(2): 27-37
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Sequeira V, Maack C (2022)
Cereblon, a novel target in heart failure: but is calcium really everything?
European Heart Journal 2022 May 21; 43(20): 1990-1992.
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Soppert J, Frisch J, Wirth J, Hemmers C, Boor P, Kramann R, Vondenhoff S, Moellmann J, Lehrke M, Hohl M, van der Vorst EPC, Werner C, Speer T, Maack C, Marx N, Jankowski J, Roma LP, Noels H (2022)
A systematic review and meta-analysis of murine models of uremic cardiomyopathy.
Kidney International 2022 Feb; 101(2): 256-273
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Veselka J, Liebregts M, Cooper R, Faber L, Januska J, Kashtanov M, Tesarkova KH, Hansen PR, Seggewiss H, Shloydo E, Popov K, Hansvenclova E, Bonaventura J, Berg JT, Stables RH, Polakova E (2022)
Outcomes of Patients With Hypertrophic Obstructive Cardiomyopathy and Pacemaker Implanted After Alcohol Septal Ablation.
JACC Cardiovascular Interventwions 2022 Oct 10; 15(19): 1910-1917.
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Veselka J, Liebregts M, Cooper R, Faber L, Januska J, Kashtanov M, Tesarkova KH, Hansen PR, Seggewiss H, Shloydo E, Popov K, Hansvenclova E, Polakova E, Ten Berg J, Stables RH, Jarkovsky J, Bonaventura J (2022) Prediction of Sudden Cardiac Arrest After Alcohol Septal Ablation for Hypertrophic Obstructive Cardiomyopathy: ASA-SCARRE Risk Score.
The American Journal of Cardiology 2022 Dec 1;184: 120-126.
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Voigt N, Maack C, Pronto JRD (2022)
Targeting Mitochondrial Calcium Handling to Treat Atrial Fibrillation.
Journal of the American College of Cardiology 2022 Dec 6; 80(23): 2220-2223.
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Wollenhaupt J, Frisch J, Harlacher E, Wong DWL, Jin H, Schulte C, Vondenhoff S, Moellmann J, Klinkhammer BM, Zhang L, Baleanu-Curaj A, Liehn EA, Speer T, Kazakov A, Werner C, van der Vorst EPC, Selejan SR, Hohl M, Böhm M, Kramann R, Biessen EAL, Lehrke M, Marx N, Jankowski J, Maack C, Boor P, Prates Roma L, Noels H (2022)
Pro-oxidative priming but maintained cardiac function in a broad spectrum of murine models of chronic kidney disease.
Redox Biology 2022 Oct; 56: 102459
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Zhang L, Dietsche F, Seitaj B, Rojas-Charry L, Latchman N, Tomar D, Wüst RC, Nickel A, Frauenknecht KB, Schoser B, Schumann S, Schmeisser MJ, Vom Berg J, Buch T, Finger S, Wenzel P, Maack C, Elrod JW, Parys JB, Bultynck G, Methner A (2022)
TMBIM5 loss of function alters mitochondrial matrix ion homeostasis and causes a skeletal myopathy.
Life Science Alliance 2022 Jun 17; 5(10): e202201478
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Zink M, Seewald A, Rohrbach M, Brodehl A, Liedtke D, Williams T, Childs SJ, Gerull B (2022)
Altered Expression of TMEM43 Causes Abnormal Cardiac Structure and Function in Zebrafish.
International Journal of Molecular Sciences 2022 Aug 23; 23(17): 9530
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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