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Items: 47

1.

Mitofusin 2 Is Essential for IP3-Mediated SR/Mitochondria Metabolic Feedback in Ventricular Myocytes.

Seidlmayer LK, Mages C, Berbner A, Eder-Negrin P, Arias-Loza PA, Kaspar M, Song M, Dorn GW II, Kohlhaas M, Frantz S, Maack C, Gerull B, Dedkova EN.

Front Physiol. 2019 Jul 18;10:733. doi: 10.3389/fphys.2019.00733. eCollection 2019.

2.

The Pore-Lipid Interface: Role of Amino-Acid Determinants of Lipophilic Access by Ivabradine to the hERG1 Pore Domain.

Perissinotti L, Guo J, Kudaibergenova M, Lees-Miller J, Ol'khovich M, Sharapova A, Perlovich GL, Muruve DA, Gerull B, Noskov SY, Duff HJ.

Mol Pharmacol. 2019 Aug;96(2):259-271. doi: 10.1124/mol.118.115642. Epub 2019 Jun 10.

PMID:
31182542
3.

Characterization of a Unique Form of Arrhythmic Cardiomyopathy Caused by Recessive Mutation in LEMD2.

Abdelfatah N, Chen R, Duff HJ, Seifer CM, Buffo I, Huculak C, Clarke S, Clegg R, Jassal DS, Gordon PMK, Ober C; Care4Rare Canada Consortium, Frosk P, Gerull B.

JACC Basic Transl Sci. 2019 Apr 29;4(2):204-221. doi: 10.1016/j.jacbts.2018.12.001. eCollection 2019 Apr.

4.

Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype.

Kolokotronis K, Kühnisch J, Klopocki E, Dartsch J, Rost S, Huculak C, Mearini G, Störk S, Carrier L, Klaassen S, Gerull B.

Hum Mutat. 2019 Aug;40(8):1101-1114. doi: 10.1002/humu.23757. Epub 2019 Apr 24.

PMID:
30924982
5.

Mutations in ILK, encoding integrin-linked kinase, are associated with arrhythmogenic cardiomyopathy.

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.

Transl Res. 2019 Jun;208:15-29. doi: 10.1016/j.trsl.2019.02.004. Epub 2019 Feb 15.

PMID:
30802431
6.

Genetic Association Study in Multigenerational Kindreds With Vasovagal Syncope.

Sheldon R, Rose MS, Ritchie D, Martens K, Maxey C, Jagers J, Parboosingh J, Gerull B.

Circ Arrhythm Electrophysiol. 2019 Jan;12(1):e006884. doi: 10.1161/CIRCEP.118.006884.

PMID:
30636478
7.

Between Disease-Causing and an Innocent Bystander: The Role of Titin as a Modifier in Hypertrophic Cardiomyopathy.

Gerull B.

Can J Cardiol. 2017 Oct;33(10):1217-1220. doi: 10.1016/j.cjca.2017.07.010. Epub 2017 Jul 21. No abstract available.

PMID:
28866075
8.

Loss-of-Function KCNE2 Variants: True Monogenic Culprits of Long-QT Syndrome or Proarrhythmic Variants Requiring Secondary Provocation?

Roberts JD, Krahn AD, Ackerman MJ, Rohatgi RK, Moss AJ, Nazer B, Tadros R, Gerull B, Sanatani S, Wijeyeratne YD, Baruteau AE, Muir AR, Pang B, Cadrin-Tourigny J, Talajic M, Rivard L, Tester DJ, Liu T, Whitman IR, Wojciak J, Conacher S, Gula LJ, Leong-Sit P, Manlucu J, Green MS, Hamilton R, Healey JS, Lopes CM, Behr ER, Wilde AA, Gollob MH, Scheinman MM.

Circ Arrhythm Electrophysiol. 2017 Aug;10(8). pii: e005282. doi: 10.1161/CIRCEP.117.005282.

PMID:
28794082
9.

Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry).

Mellor G, Laksman ZWM, Tadros R, Roberts JD, Gerull B, Simpson CS, Klein GJ, Champagne J, Talajic M, Gardner M, Steinberg C, Arbour L, Birnie DH, Angaran P, Leather R, Sanatani S, Chauhan VS, Seifer C, Healey JS, Krahn AD.

Circ Cardiovasc Genet. 2017 Jun;10(3). pii: e001686. doi: 10.1161/CIRCGENETICS.116.001686.

PMID:
28600387
10.

Transgenic mice overexpressing desmocollin-2 (DSC2) develop cardiomyopathy associated with myocardial inflammation and fibrotic remodeling.

Brodehl A, Belke DD, Garnett L, Martens K, Abdelfatah N, Rodriguez M, Diao C, Chen YX, Gordon PM, Nygren A, Gerull B.

PLoS One. 2017 Mar 24;12(3):e0174019. doi: 10.1371/journal.pone.0174019. eCollection 2017.

11.

Reversible Dilated Cardiomyopathy Caused by a High Burden of Ventricular Arrhythmias in Andersen-Tawil Syndrome.

Rezazadeh S, Guo J, Duff HJ, Ferrier RA, Gerull B.

Can J Cardiol. 2016 Dec;32(12):1576.e15-1576.e18. doi: 10.1016/j.cjca.2016.07.587. Epub 2016 Jul 27.

PMID:
27789106
12.

Cardiac Abnormalities in First-Degree Relatives of Unexplained Cardiac Arrest Victims: A Report From the Cardiac Arrest Survivors With Preserved Ejection Fraction Registry.

Steinberg C, Padfield GJ, Champagne J, Sanatani S, Angaran P, Andrade JG, Roberts JD, Healey JS, Chauhan VS, Birnie DH, Janzen M, Gerull B, Klein GJ, Leather R, Simpson CS, Seifer C, Talajic M, Gardner M, Krahn AD.

Circ Arrhythm Electrophysiol. 2016 Sep;9(9). pii: e004274. doi: 10.1161/CIRCEP.115.004274.

PMID:
27635072
13.

The Canadian Arrhythmogenic Right Ventricular Cardiomyopathy Registry: Rationale, Design, and Preliminary Recruitment.

Krahn AD, Healey JS, Gerull B, Angaran P, Chakrabarti S, Sanatani S, Arbour L, Laksman ZW, Carroll SL, Seifer C, Green M, Roberts JD, Talajic M, Hamilton R, Gardner M.

Can J Cardiol. 2016 Dec;32(12):1396-1401. doi: 10.1016/j.cjca.2016.04.004. Epub 2016 Apr 21.

PMID:
27474350
14.

Response to Letter Regarding Article, "Outcome of Apparently Unexplained Cardiac Arrest: Results From Investigation and Follow-Up of the Prospective Cardiac Arrest Survivors With Preserved Ejection Fraction Registry".

Herman AR, Cheung C, Gerull B, Simpson CS, Birnie DH, Klein GJ, Champagne J, Healey JS, Gibbs K, Talajic M, Gardner M, Bennett MT, Steinberg C, Janzen M, Gollob MH, Angaran P, Yee R, Leather R, Chakrabarti S, Sanatani S, Chauhan VS, Krahn AD.

Circ Arrhythm Electrophysiol. 2016 Apr;9(4):e004012. doi: 10.1161/CIRCEP.116.004012. No abstract available.

PMID:
27069091
15.

Outcome of Apparently Unexplained Cardiac Arrest: Results From Investigation and Follow-Up of the Prospective Cardiac Arrest Survivors With Preserved Ejection Fraction Registry.

Herman AR, Cheung C, Gerull B, Simpson CS, Birnie DH, Klein GJ, Champagne J, Healey JS, Gibbs K, Talajic M, Gardner M, Bennett MT, Steinberg C, Janzen M, Gollob MH, Angaran P, Yee R, Leather R, Chakrabarti S, Sanatani S, Chauhan VS, Krahn AD.

Circ Arrhythm Electrophysiol. 2016 Jan;9(1):e003619. doi: 10.1161/CIRCEP.115.003619.

PMID:
26783233
16.

Functional characterization of the novel DES mutation p.L136P associated with dilated cardiomyopathy reveals a dominant filament assembly defect.

Brodehl A, Dieding M, Biere N, Unger A, Klauke B, Walhorn V, Gummert J, Schulz U, Linke WA, Gerull B, Vorgert M, Anselmetti D, Milting H.

J Mol Cell Cardiol. 2016 Feb;91:207-14. doi: 10.1016/j.yjmcc.2015.12.015. Epub 2015 Dec 23.

PMID:
26724190
17.

Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.

Brodehl A, Ferrier RA, Hamilton SJ, Greenway SC, Brundler MA, Yu W, Gibson WT, McKinnon ML, McGillivray B, Alvarez N, Giuffre M, Schwartzentruber J; FORGE Canada Consortium, Gerull B.

Hum Mutat. 2016 Mar;37(3):269-79. doi: 10.1002/humu.22942. Epub 2016 Jan 8.

PMID:
26666891
18.

The Rapidly Evolving Role of Titin in Cardiac Physiology and Cardiomyopathy.

Gerull B.

Can J Cardiol. 2015 Nov;31(11):1351-9. doi: 10.1016/j.cjca.2015.08.016. Epub 2015 Aug 28. Review.

PMID:
26518445
19.

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.

Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Warman Chardon J, Chitayat D, Deladoëy J, Fernandez BA, Frosk P, Geraghty MT, Gerull B, Gibson W, Gow RM, Graham GE, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel SM, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu VM, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir FR; FORGE Canada Consortium; Care4Rare Canada Consortium, Majewski J, Boycott KM.

Clin Genet. 2016 Mar;89(3):275-84. doi: 10.1111/cge.12654. Epub 2015 Sep 22. Review.

20.

Early repolarization syndrome: A case report focusing on dynamic electrocardiographic changes before ventricular arrhythmias and genetic analysis.

Tan VH, Duff H, Gerull B, Sumner G.

HeartRhythm Case Rep. 2015 Apr 2;1(4):213-216. doi: 10.1016/j.hrcr.2015.03.001. eCollection 2015 Jul. No abstract available.

21.

Antisense-mediated exon skipping: a therapeutic strategy for titin-based dilated cardiomyopathy.

Gramlich M, Pane LS, Zhou Q, Chen Z, Murgia M, Schötterl S, Goedel A, Metzger K, Brade T, Parrotta E, Schaller M, Gerull B, Thierfelder L, Aartsma-Rus A, Labeit S, Atherton JJ, McGaughran J, Harvey RP, Sinnecker D, Mann M, Laugwitz KL, Gawaz MP, Moretti A.

EMBO Mol Med. 2015 May;7(5):562-76. doi: 10.15252/emmm.201505047.

22.

Phenotypic analysis of arrhythmogenic cardiomyopathy in the Hutterite population: role of electrocardiogram in identifying high-risk desmocollin-2 carriers.

Wong JA, Duff HJ, Yuen T, Kolman L, Exner DV, Weeks SG, Gerull B.

J Am Heart Assoc. 2014 Dec 11;3(6):e001407. doi: 10.1161/JAHA.114.001407.

23.

Congenital long QT syndrome: severe torsades de pointes provoked by epinephrine in a digenic mutation carrier.

Tan VH, Duff H, Kuriachan V, Gerull B.

Heart Lung. 2014 Nov-Dec;43(6):541-5. doi: 10.1016/j.hrtlng.2014.07.004. Epub 2014 Sep 16.

PMID:
25236808
24.

Skin-heart connection: what can the epidermis tell us about the myocardium in arrhythmogenic cardiomyopathy?

Gerull B.

Circ Cardiovasc Genet. 2014 Jun;7(3):225-7. doi: 10.1161/CIRCGENETICS.114.000647. No abstract available.

PMID:
24951656
25.

Procainamide infusion in the evaluation of unexplained cardiac arrest: from the Cardiac Arrest Survivors with Preserved Ejection Fraction Registry (CASPER).

Somani R, Krahn AD, Healey JS, Chauhan VS, Birnie DH, Champagne J, Sanatani S, Angaran P, Gow RM, Chakrabarti S, Gerull B, Yee R, Skanes AC, Gula LJ, Leong-Sit P, Klein GJ, Gollob MH, Talajic M, Gardner M, Simpson CS.

Heart Rhythm. 2014 Jun;11(6):1047-54. doi: 10.1016/j.hrthm.2014.03.022. Epub 2014 Mar 18.

PMID:
24657429
26.

Exome sequencing identifies a novel variant in ACTC1 associated with familial atrial septal defect.

Greenway SC, McLeod R, Hume S, Roslin NM, Alvarez N, Giuffre M, Zhan SH, Shen Y, Preuss C, Andelfinger G; FORGE Canada Consortium, Jones SJ, Gerull B.

Can J Cardiol. 2014 Feb;30(2):181-7. doi: 10.1016/j.cjca.2013.12.003. Epub 2013 Dec 6.

PMID:
24461919
27.

Titin mutation in familial restrictive cardiomyopathy.

Peled Y, Gramlich M, Yoskovitz G, Feinberg MS, Afek A, Polak-Charcon S, Pras E, Sela BA, Konen E, Weissbrod O, Geiger D, Gordon PM, Thierfelder L, Freimark D, Gerull B, Arad M.

Int J Cardiol. 2014 Jan 15;171(1):24-30. doi: 10.1016/j.ijcard.2013.11.037. Epub 2013 Nov 25.

PMID:
24315344
28.

Evolution of clinical diagnosis in patients presenting with unexplained cardiac arrest or syncope due to polymorphic ventricular tachycardia.

Vittoria Matassini M, Krahn AD, Gardner M, Champagne J, Sanatani S, Birnie DH, Gollob MH, Chauhan V, Simpson CS, Hamilton RM, Talajic M, Ahmad K, Gerull B, Chakrabarti S, Healey JS.

Heart Rhythm. 2014 Feb;11(2):274-81. doi: 10.1016/j.hrthm.2013.11.008. Epub 2013 Nov 14.

PMID:
24239842
29.

Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population.

Gerull B, Kirchner F, Chong JX, Tagoe J, Chandrasekharan K, Strohm O, Waggoner D, Ober C, Duff HJ.

Circ Cardiovasc Genet. 2013 Aug;6(4):327-36. doi: 10.1161/CIRCGENETICS.113.000097. Epub 2013 Jul 17.

PMID:
23863954
30.

Epinephrine infusion in the evaluation of unexplained cardiac arrest and familial sudden death: from the cardiac arrest survivors with preserved Ejection Fraction Registry.

Krahn AD, Healey JS, Chauhan VS, Birnie DH, Champagne J, Sanatani S, Ahmad K, Ballantyne E, Gerull B, Yee R, Skanes AC, Gula LJ, Leong-Sit P, Klein GJ, Gollob MH, Simpson CS, Talajic M, Gardner M.

Circ Arrhythm Electrophysiol. 2012 Oct;5(5):933-40. doi: 10.1161/CIRCEP.112.973230. Epub 2012 Sep 3.

PMID:
22944906
31.

Molecular insights into arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 missense mutations.

Kirchner F, Schuetz A, Boldt LH, Martens K, Dittmar G, Haverkamp W, Thierfelder L, Heinemann U, Gerull B.

Circ Cardiovasc Genet. 2012 Aug 1;5(4):400-11. doi: 10.1161/CIRCGENETICS.111.961854. Epub 2012 Jul 9.

PMID:
22781308
32.

A novel titin mutation in adult-onset familial dilated cardiomyopathy.

Yoskovitz G, Peled Y, Gramlich M, Lahat H, Resnik-Wolf H, Feinberg MS, Afek A, Pras E, Arad M, Gerull B, Freimark D.

Am J Cardiol. 2012 Jun 1;109(11):1644-50. doi: 10.1016/j.amjcard.2012.01.392. Epub 2012 Apr 3.

PMID:
22475360
33.

RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing.

Guo W, Schafer S, Greaser ML, Radke MH, Liss M, Govindarajan T, Maatz H, Schulz H, Li S, Parrish AM, Dauksaite V, Vakeel P, Klaassen S, Gerull B, Thierfelder L, Regitz-Zagrosek V, Hacker TA, Saupe KW, Dec GW, Ellinor PT, MacRae CA, Spallek B, Fischer R, Perrot A, Özcelik C, Saar K, Hubner N, Gotthardt M.

Nat Med. 2012 May;18(5):766-73. doi: 10.1038/nm.2693.

34.

Novel c.367_369del LMNA mutation manifesting as severe arrhythmias, dilated cardiomyopathy, and myopathy.

Keller H, Finsterer J, Steger C, Wexberg P, Gatterer E, Khazen C, Stix G, Gerull B, Höftberger R, Weidinger F.

Heart Lung. 2012 Jul-Aug;41(4):382-6. doi: 10.1016/j.hrtlng.2011.07.007. Epub 2011 Oct 21.

PMID:
22019351
35.

Genetics of the faint-hearted: great results, alternate hypothesis.

Krahn AD, Gerull B, Sheldon RS.

Circ Cardiovasc Genet. 2011 Oct;4(5):472-4. doi: 10.1161/CIRCGENETICS.111.961375. No abstract available.

PMID:
22010161
36.

Stress-induced dilated cardiomyopathy in a knock-in mouse model mimicking human titin-based disease.

Gramlich M, Michely B, Krohne C, Heuser A, Erdmann B, Klaassen S, Hudson B, Magarin M, Kirchner F, Todiras M, Granzier H, Labeit S, Thierfelder L, Gerull B.

J Mol Cell Cardiol. 2009 Sep;47(3):352-8. doi: 10.1016/j.yjmcc.2009.04.014. Epub 2009 May 4.

37.

Mutations in sarcomere protein genes in left ventricular noncompaction.

Klaassen S, Probst S, Oechslin E, Gerull B, Krings G, Schuler P, Greutmann M, Hürlimann D, Yegitbasi M, Pons L, Gramlich M, Drenckhahn JD, Heuser A, Berger F, Jenni R, Thierfelder L.

Circulation. 2008 Jun 3;117(22):2893-901. doi: 10.1161/CIRCULATIONAHA.107.746164. Epub 2008 May 27.

PMID:
18506004
38.

Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy.

Heuser A, Plovie ER, Ellinor PT, Grossmann KS, Shin JT, Wichter T, Basson CT, Lerman BB, Sasse-Klaassen S, Thierfelder L, MacRae CA, Gerull B.

Am J Hum Genet. 2006 Dec;79(6):1081-8. Epub 2006 Oct 3.

39.

A novel locus for dilated cardiomyopathy, diffuse myocardial fibrosis, and sudden death on chromosome 10q25-26.

Ellinor PT, Sasse-Klaassen S, Probst S, Gerull B, Shin JT, Toeppel A, Heuser A, Michely B, Yoerger DM, Song BS, Pilz B, Krings G, Coplin B, Lange PE, Dec GW, Hennies HC, Thierfelder L, MacRae CA.

J Am Coll Cardiol. 2006 Jul 4;48(1):106-11. Epub 2006 Jun 21.

40.

Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy.

Gerull B, Atherton J, Geupel A, Sasse-Klaassen S, Heuser A, Frenneaux M, McNabb M, Granzier H, Labeit S, Thierfelder L.

J Mol Med (Berl). 2006 Jun;84(6):478-83. Epub 2006 May 6.

PMID:
16733766
41.

Titin isoform-dependent effect of calcium on passive myocardial tension.

Fujita H, Labeit D, Gerull B, Labeit S, Granzier HL.

Am J Physiol Heart Circ Physiol. 2004 Dec;287(6):H2528-34.

42.

Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.

Gerull B, Heuser A, Wichter T, Paul M, Basson CT, McDermott DA, Lerman BB, Markowitz SM, Ellinor PT, MacRae CA, Peters S, Grossmann KS, Drenckhahn J, Michely B, Sasse-Klaassen S, Birchmeier W, Dietz R, Breithardt G, Schulze-Bahr E, Thierfelder L.

Nat Genet. 2004 Nov;36(11):1162-4. Epub 2004 Oct 17. Erratum in: Nat Genet. 2005 Jan;37(1):106.

PMID:
15489853
43.

Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15.

Sasse-Klaassen S, Probst S, Gerull B, Oechslin E, Nürnberg P, Heuser A, Jenni R, Hennies HC, Thierfelder L.

Circulation. 2004 Jun 8;109(22):2720-3. Epub 2004 Jun 1.

PMID:
15173023
44.

Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients.

Sasse-Klaassen S, Gerull B, Oechslin E, Jenni R, Thierfelder L.

Am J Med Genet A. 2003 Jun 1;119A(2):162-7.

PMID:
12749056
45.

Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.

Gerull B, Gramlich M, Atherton J, McNabb M, Trombitás K, Sasse-Klaassen S, Seidman JG, Seidman C, Granzier H, Labeit S, Frenneaux M, Thierfelder L.

Nat Genet. 2002 Feb;30(2):201-4. Epub 2002 Jan 14.

PMID:
11788824
46.

Hypercontractile properties of cardiac muscle fibers in a knock-in mouse model of cardiac myosin-binding protein-C.

Witt CC, Gerull B, Davies MJ, Centner T, Linke WA, Thierfelder L.

J Biol Chem. 2001 Feb 16;276(7):5353-9. Epub 2000 Nov 28.

47.

A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy.

Gerull B, Osterziel KJ, Witt C, Dietz R, Thierfelder L.

Hum Mutat. 1998;11(2):179-82.

PMID:
9482583

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