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Connection

Luisa Mestroni to Mutation

This is a "connection" page, showing publications Luisa Mestroni has written about Mutation.

 
Connection Strength
 
 
 
2.022
 
  1. McNally EM, Mestroni L. Dilated Cardiomyopathy: Genetic Determinants and Mechanisms. Circ Res. 2017 Sep 15; 121(7):731-748.
    View in: PubMed
    Score: 0.291
  2. Eldemire R, Tharp CA, Taylor MRG, Sbaizero O, Mestroni L. The Sarcomeric Spring Protein Titin: Biophysical Properties, Molecular Mechanisms, and Genetic Mutations Associated with Heart Failure and Cardiomyopathy. Curr Cardiol Rep. 2021 07 16; 23(9):121.
    View in: PubMed
    Score: 0.095
  3. Camors EM, Purevjav E, Jefferies JL, Saffitz JE, Gong N, Ryan TD, Lucky AW, Taylor MD, Sullivan LM, Mestroni L, Towbin JA. Early Lethality Due to a Novel Desmoplakin Variant Causing Infantile Epidermolysis Bullosa Simplex With Fragile Skin, Aplasia Cutis Congenita, and Arrhythmogenic Cardiomyopathy. Circ Genom Precis Med. 2020 04; 13(2):e002800.
    View in: PubMed
    Score: 0.086
  4. Brodsky GL, Muntoni F, Miocic S, Sinagra G, Sewry C, Mestroni L. Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. Circulation. 2000 Feb 08; 101(5):473-6.
    View in: PubMed
    Score: 0.086
  5. Axelsson Raja A, Shi L, Day SM, Russell M, Zahka K, Lever H, Colan SD, Margossian R, Hall EK, Becker J, Jefferies JL, Patel AR, Choudhury L, Murphy AM, Canter C, Bach R, Taylor M, Mestroni L, Wheeler MT, Benson L, Owens AT, Rossano J, Lin KY, Pahl E, Pereira AC, Bundgaard H, Lewis GD, Vargas JD, Cirino AL, McMurray JJV, MacRae CA, Solomon SD, Orav EJ, Braunwald E, Ho CY. Baseline Characteristics of the VANISH Cohort. Circ Heart Fail. 2019 12; 12(12):e006231.
    View in: PubMed
    Score: 0.085
  6. Chen SN, Sbaizero O, Taylor MRG, Mestroni L. Lamin A/C Cardiomyopathy: Implications for Treatment. Curr Cardiol Rep. 2019 11 26; 21(12):160.
    View in: PubMed
    Score: 0.085
  7. Chen SN, Lombardi R, Karmouch J, Tsai JY, Czernuszewicz G, Taylor MRG, Mestroni L, Coarfa C, Gurha P, Marian AJ. DNA Damage Response/TP53 Pathway Is Activated and Contributes to the Pathogenesis of Dilated Cardiomyopathy Associated With LMNA (Lamin A/C) Mutations. Circ Res. 2019 03 15; 124(6):856-873.
    View in: PubMed
    Score: 0.081
  8. Paldino A, De Angelis G, Merlo M, Gigli M, Dal Ferro M, Severini GM, Mestroni L, Sinagra G. Genetics of Dilated Cardiomyopathy: Clinical Implications. Curr Cardiol Rep. 2018 08 13; 20(10):83.
    View in: PubMed
    Score: 0.077
  9. Mestroni L, Sbaizero O. Arrhythmogenic Cardiomyopathy: Mechanotransduction Going Wrong. Circulation. 2018 04 10; 137(15):1611-1613.
    View in: PubMed
    Score: 0.076
  10. Begay RL, Graw SL, Sinagra G, Asimaki A, Rowland TJ, Slavov DB, Gowan K, Jones KL, Brun F, Merlo M, Miani D, Sweet M, Devaraj K, Wartchow EP, Gigli M, Puggia I, Salcedo EE, Garrity DM, Ambardekar AV, Buttrick P, Reece TB, Bristow MR, Saffitz JE, Mestroni L, Taylor MRG. Filamin C Truncation Mutations Are Associated With Arrhythmogenic Dilated?Cardiomyopathy and Changes in?the Cell-Cell Adhesion Structures. JACC Clin Electrophysiol. 2018 04; 4(4):504-514.
    View in: PubMed
    Score: 0.075
  11. Dal Ferro M, Stolfo D, Altinier A, Gigli M, Perrieri M, Ramani F, Barbati G, Pivetta A, Brun F, Monserrat L, Giacca M, Mestroni L, Merlo M, Sinagra G. Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy. Heart. 2017 11; 103(21):1704-1710.
    View in: PubMed
    Score: 0.071
  12. Ho CY, Day SM, Colan SD, Russell MW, Towbin JA, Sherrid MV, Canter CE, Jefferies JL, Murphy AM, Cirino AL, Abraham TP, Taylor M, Mestroni L, Bluemke DA, Jarolim P, Shi L, Sleeper LA, Seidman CE, Orav EJ. The Burden of Early Phenotypes and the Influence of Wall Thickness in Hypertrophic Cardiomyopathy Mutation Carriers: Findings From the HCMNet Study. JAMA Cardiol. 2017 04 01; 2(4):419-428.
    View in: PubMed
    Score: 0.070
  13. Porto AG, Brun F, Severini GM, Losurdo P, Fabris E, Taylor MRG, Mestroni L, Sinagra G. Clinical Spectrum of PRKAG2 Syndrome. Circ Arrhythm Electrophysiol. 2016 Jan; 9(1):e003121.
    View in: PubMed
    Score: 0.065
  14. Lanzicher T, Martinelli V, Long CS, Del Favero G, Puzzi L, Borelli M, Mestroni L, Taylor MR, Sbaizero O. AFM single-cell force spectroscopy links altered nuclear and cytoskeletal mechanics to defective cell adhesion in cardiac myocytes with a nuclear lamin mutation. Nucleus. 2015; 6(5):394-407.
    View in: PubMed
    Score: 0.060
  15. Feldman AM, Begay RL, Knezevic T, Myers VD, Slavov DB, Zhu W, Gowan K, Graw SL, Jones KL, Tilley DG, Coleman RC, Walinsky P, Cheung JY, Mestroni L, Khalili K, Taylor MR. Decreased levels of BAG3 in a family with a rare variant and in idiopathic dilated cardiomyopathy. J Cell Physiol. 2014 Nov; 229(11):1697-702.
    View in: PubMed
    Score: 0.060
  16. Herman DS, Lam L, Taylor MR, Wang L, Teekakirikul P, Christodoulou D, Conner L, DePalma SR, McDonough B, Sparks E, Teodorescu DL, Cirino AL, Banner NR, Pennell DJ, Graw S, Merlo M, Di Lenarda A, Sinagra G, Bos JM, Ackerman MJ, Mitchell RN, Murry CE, Lakdawala NK, Ho CY, Barton PJ, Cook SA, Mestroni L, Seidman JG, Seidman CE. Truncations of titin causing dilated cardiomyopathy. N Engl J Med. 2012 Feb 16; 366(7):619-28.
    View in: PubMed
    Score: 0.049
  17. Bortot B, Athanasakis E, Brun F, Rizzotti D, Mestroni L, Sinagra G, Severini GM. High-throughput genotyping robot-assisted method for mutation detection in patients with hypertrophic cardiomyopathy. Diagn Mol Pathol. 2011 Sep; 20(3):175-9.
    View in: PubMed
    Score: 0.048
  18. McNair WP, Sinagra G, Taylor MR, Di Lenarda A, Ferguson DA, Salcedo EE, Slavov D, Zhu X, Caldwell JH, Mestroni L. SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism. J Am Coll Cardiol. 2011 May 24; 57(21):2160-8.
    View in: PubMed
    Score: 0.047
  19. Mestroni L, Taylor MR. Lamin A/C gene and the heart: how genetics may impact clinical care. J Am Coll Cardiol. 2008 Oct 07; 52(15):1261-2.
    View in: PubMed
    Score: 0.039
  20. Taylor MR, Slavov D, Ku L, Di Lenarda A, Sinagra G, Carniel E, Haubold K, Boucek MM, Ferguson D, Graw SL, Zhu X, Cavanaugh J, Sucharov CC, Long CS, Bristow MR, Lavori P, Mestroni L. Prevalence of desmin mutations in dilated cardiomyopathy. Circulation. 2007 Mar 13; 115(10):1244-51.
    View in: PubMed
    Score: 0.035
  21. Taylor MR, Carniel E, Mestroni L. Familial hypertrophic cardiomyopathy: clinical features, molecular genetics and molecular genetic testing. Expert Rev Mol Diagn. 2004 Jan; 4(1):99-113.
    View in: PubMed
    Score: 0.028
  22. Cannie DE, Syrris P, Protonotarios A, Bakalakos A, Pruny JF, Ditaranto R, Martinez-Veira C, Larra?aga-Moreira JM, Medo K, Berm?dez-Jim?nez FJ, Ben Yaou R, Leturcq F, Mezcua AR, Marini-Bettolo C, Cabrera E, Reuter C, Limeres Freire J, Rodr?guez-Palomares JF, Mestroni L, Taylor MRG, Parikh VN, Ashley EA, Barriales-Villa R, Jim?nez-J?imez J, Garcia-Pavia P, Charron P, Biagini E, Garc?a Pinilla JM, Bourke J, Savvatis K, Wahbi K, Elliott PM. Emery-Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure. Eur Heart J. 2023 Dec 21; 44(48):5064-5073.
    View in: PubMed
    Score: 0.028
  23. Eldemire R, Mestroni L, Taylor MRG. Genetics of Dilated Cardiomyopathy. Annu Rev Med. 2024 Jan 29; 75:417-426.
    View in: PubMed
    Score: 0.028
  24. Nagyova E, Hoorntje ET, Te Rijdt WP, Bosman LP, Syrris P, Protonotarios A, Elliott PM, Tsatsopoulou A, Mestroni L, Taylor MRG, Sinagra G, Merlo M, Wada Y, Horie M, Mogensen J, Christensen AH, Gerull B, Song L, Yao Y, Fan S, Saguner AM, Duru F, Koskenvuo JW, Cruz Marino T, Tichnell C, Judge DP, Dooijes D, Lekanne Deprez RH, Basso C, Pilichou K, Bauce B, Wilde AAM, Charron P, Fressart V, van der Heijden JF, van den Berg MP, Asselbergs FW, James CA, Jongbloed JDH, Harakalova M, van Tintelen JP. A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients. J Cardiovasc Transl Res. 2023 Dec; 16(6):1276-1286.
    View in: PubMed
    Score: 0.027
  25. Mestroni L. Genomic medicine and atrial fibrillation. J Am Coll Cardiol. 2003 Jun 18; 41(12):2193-6.
    View in: PubMed
    Score: 0.027
  26. O'Neill MJ, Chen SN, Rumping L, Johnson R, van Slegtenhorst M, Glazer AM, Yang T, Solus JF, Laudeman J, Mitchell DW, Vanags LR, Kroncke BM, Anderson K, Gao S, Verdonschot JAJ, Brunner H, Hellebrekers D, Taylor MRG, Roden DM, Wessels MW, Lekanne Dit Deprez RH, Fatkin D, Mestroni L, Shoemaker MB. Multicenter clinical and functional evidence reclassifies a recurrent noncanonical filamin C splice-altering variant. Heart Rhythm. 2023 08; 20(8):1158-1166.
    View in: PubMed
    Score: 0.027
  27. MacRae CA, Taylor MR, Mestroni L, Moses J, Ashley EA, Wheeler MT, Lakdawala NK, Hershberger RE, Sandor V, Saunders ME, Oliver C, Lee PA, Judge DP. Plain Language Summary of Publication of the safety and efficacy of ARRY-371797 in people with dilated cardiomyopathy and a faulty LMNA gene. Future Cardiol. 2023 02; 19(2):55-63.
    View in: PubMed
    Score: 0.026
  28. Pe?a B, Gao S, Borin D, Del Favero G, Abdel-Hafiz M, Farahzad N, Lorenzon P, Sinagra G, Taylor MRG, Mestroni L, Sbaizero O. Cellular Biomechanic Impairment in Cardiomyocytes Carrying the Progeria Mutation: An Atomic Force Microscopy Investigation. Langmuir. 2022 12 06; 38(48):14928-14940.
    View in: PubMed
    Score: 0.026
  29. Gao S, Mumme-Monheit A, Chen SN, Spector EB, Slavov D, Baralle FE, Bristow MR, Mestroni L, Taylor MRG. An LMNA synonymous variant associated with severe dilated cardiomyopathy: Case report. Am J Med Genet A. 2022 02; 188(2):600-605.
    View in: PubMed
    Score: 0.024
  30. Manca P, Cannat? A, Nuzzi V, Bromage DI, Varr? GG, Rossi M, Dal Ferro M, Paldino A, Gigli M, Barbati G, Ramani F, Pinamonti B, Stolfo D, Porcu M, Mestroni L, Merlo M, Sinagra G. Prevalence and Evolution of Right Ventricular Dysfunction Among Different Genetic Backgrounds in Dilated Cardiomyopathy. Can J Cardiol. 2021 11; 37(11):1743-1750.
    View in: PubMed
    Score: 0.024
  31. Chen SN, Mestroni L, Taylor MRG. Genetics of dilated cardiomyopathy. Curr Opin Cardiol. 2021 05 01; 36(3):288-294.
    View in: PubMed
    Score: 0.023
  32. Brun F, Gigli M, Graw SL, Judge DP, Merlo M, Murray B, Calkins H, Sinagra G, Taylor MR, Mestroni L, James CA. FLNC truncations cause arrhythmogenic right ventricular cardiomyopathy. J Med Genet. 2020 04; 57(4):254-257.
    View in: PubMed
    Score: 0.021
  33. Borin D, Pe?a B, Taylor MRG, Mestroni L, Lapasin R, Sbaizero O. Viscoelastic behavior of cardiomyocytes carrying LMNA mutations. Biorheology. 2020; 57(1):1-14.
    View in: PubMed
    Score: 0.021
  34. Muntoni F, Ferlini A, Sewry C, Mateddu A, Marrosu G, Porcu M, Di Lenarda A, Sinagra G, Mestroni L. Dilated cardiomyopathy and muscular dystrophies: which lesson can be learned? Cardiologia. 1999 Dec; 44 Suppl 1(Pt 1):209-11.
    View in: PubMed
    Score: 0.021
  35. Parikh VN, Caleshu C, Reuter C, Lazzeroni LC, Ingles J, Garcia J, McCaleb K, Adesiyun T, Sedaghat-Hamedani F, Kumar S, Graw S, Gigli M, Stolfo D, Dal Ferro M, Ing AY, Nussbaum R, Funke B, Wheeler MT, Hershberger RE, Cook S, Steinmetz LM, Lakdawala NK, Taylor MRG, Mestroni L, Merlo M, Sinagra G, Semsarian C, Meder B, Judge DP, Ashley E. Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy. Circ Heart Fail. 2019 03; 12(3):e005371.
    View in: PubMed
    Score: 0.020
  36. Laurini E, Martinelli V, Lanzicher T, Puzzi L, Borin D, Chen SN, Long CS, Lee P, Mestroni L, Taylor MRG, Sbaizero O, Pricl S. Biomechanical defects and rescue of cardiomyocytes expressing pathologic nuclear lamins. Cardiovasc Res. 2018 05 01; 114(6):846-857.
    View in: PubMed
    Score: 0.019
  37. D'souza RS, Levandowski C, Slavov D, Graw SL, Allen LA, Adler E, Mestroni L, Taylor MR. Danon disease: clinical features, evaluation, and management. Circ Heart Fail. 2014 Sep; 7(5):843-9.
    View in: PubMed
    Score: 0.015
  38. Ganesh SK, Arnett DK, Assimes TL, Assimes TL, Basson CT, Chakravarti A, Ellinor PT, Engler MB, Goldmuntz E, Herrington DM, Hershberger RE, Hong Y, Johnson JA, Kittner SJ, McDermott DA, Meschia JF, Mestroni L, O'Donnell CJ, Psaty BM, Vasan RS, Ruel M, Shen WK, Terzic A, Waldman SA. Genetics and genomics for the prevention and treatment of cardiovascular disease: update: a scientific statement from the American Heart Association. Circulation. 2013 Dec 24; 128(25):2813-51.
    View in: PubMed
    Score: 0.014
  39. Campbell N, Sinagra G, Jones KL, Slavov D, Gowan K, Merlo M, Carniel E, Fain PR, Aragona P, Di Lenarda A, Mestroni L, Taylor MR. Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy. PLoS One. 2013; 8(10):e78104.
    View in: PubMed
    Score: 0.014
  40. Taylor MRG, Ku L, Slavov D, Cavanaugh J, Boucek M, Zhu X, Graw S, Carniel E, Barnes C, Quan D, Prall R, Lovell MA, Mierau G, Ruegg P, Mandava N, Bristow MR, Towbin JA, Mestroni L. Danon disease presenting with dilated cardiomyopathy and a complex phenotype. J Hum Genet. 2007; 52(10):830-835.
    View in: PubMed
    Score: 0.009
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Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.

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