Amyloid Neuropathies, Familial

Displaying 1 - 31 of 31CSV
Judge, D. P., Alexander, K. M., Cappelli, F., Fontana, M., Garcia-Pavia, P., Gibbs, S. D. J., Grogan, M., Hanna, M., Masri, A., Maurer, M. S., Obici, L., Soman, P., Cao, X., Lystig, T., Tamby, J.-F., Siddhanti, S., Castaño, A., Katz, L., Fox, J. C., … Gillmore, J. D. (2025). Efficacy of Acoramidis on All-Cause Mortality and Cardiovascular Hospitalization in Transthyretin Amyloid Cardiomyopathy. Journal of the American College of Cardiology, 85(10), 1003–1014. https://doi.org/10.1016/j.jacc.2024.11.042
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Gonzalez-Lopez, E., Maurer, M. S., & Garcia-Pavia, P. (2025). Transthyretin amyloid cardiomyopathy: a paradigm for advancing precision medicine. European Heart Journal. https://doi.org/10.1093/eurheartj/ehae811
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Fontana, M., Maurer, M. S., Gillmore, J. D., Bender, S., Jay, P. Y., & Solomon, S. D. (2025). Worsening of Heart Failure in Outpatients With Transthyretin Amyloidosis and Cardiomyopathy in the APOLLO-B Trial. Journal of the American College of Cardiology. https://doi.org/10.1016/j.jacc.2024.10.097
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Folkvaljon, F., Gertz, M., Gillmore, J. D., Khella, S., Masri, A., Maurer, M. S., Cruz, M. W., Wixner, J., Chen, J., Reicher, B., Kwoh, J., Yarlas, A., & Berk, J. L. (2024). Estimating Meaningful Differences in Measures of Neuropathic Impairment, Health‐Related Quality of Life, and Nutritional Status in Patients With Hereditary Transthyretin Amyloidosis. Muscle & Nerve, 71(1), 96–107. Portico. https://doi.org/10.1002/mus.28299
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Fontana, M., Maurer, M. S., Gillmore, J. D., Bender, S., Aldinc, E., Eraly, S. A., Jay, P. Y., & Solomon, S. D. (2024). Outpatient Worsening Heart Failure in Patients with Transthyretin Amyloidosis with Cardiomyopathy in the HELIOS-B Trial. Journal of the American College of Cardiology. https://doi.org/10.1016/j.jacc.2024.11.015
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Liou, L., Maurer, M. S., & Kontorovich, A. R. (2024). Improved Access to Genetics Care is Needed to Address Health Inequities in ATTRv Amyloidosis. Circulation, 150(14), 1072–1074. https://doi.org/10.1161/circulationaha.124.070525
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Maurer, M. S., Soman, P., Hernandez, A., Garcia-Pavia, P., Signorovitch, J., Wei, L. J., Hanna, M., Ruberg, F. L., Kittleson, M., Kazi, D., Dorbala, S., Hsu, K., Lousada, I., Adigun, R., Dunnmon, P., Kelly, J., Gillmore, J., Masri, A., … Sanjurjo, V. (2024). Advancing Transthyretin Amyloidosis Drug Development in an Evolving Treatment Landscape: Amyloidosis Forum Meeting Proceedings. Advances in Therapy, 41(7), 2723–2742. https://doi.org/10.1007/s12325-024-02891-0
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Shetty, N. S., Pampana, A., Patel, N., Maurer, M. S., Goyal, P., Li, P., Arora, G., & Arora, P. (2024). Carpal Tunnel Syndrome and Transthyretin Amyloidosis in the All of Us Research Program. Mayo Clinic Proceedings, 99(7), 1101–1111. https://doi.org/10.1016/j.mayocp.2023.11.016
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Petros, F. E., Santos, A. M., Adeniyi, A., Teruya, S., De Los Santos, J., Maurer, M. S., & Agrawal, S. K. (2024). Gait abnormalities in older adults with transthyretin cardiac amyloidosis. Amyloid, 31(2), 116–123. https://doi.org/10.1080/13506129.2024.2319133
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Datar, Y., Cuddy, S. A. M., Ovsak, G., Giblin, G. T., Maurer, M. S., Ruberg, F. L., Arnaout, R., & Dorbala, S. (2024). Myocardial Texture Analysis of Echocardiograms in Cardiac Transthyretin Amyloidosis. Journal of the American Society of Echocardiography, 37(5), 570–573. https://doi.org/10.1016/j.echo.2024.02.005
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Garcia‐Pavia, P., Grogan, M., Kale, P., Berk, J. L., Maurer, M. S., Conceição, I., Di Carli, M., Solomon, S. D., Chen, C., Yureneva, E., Vest, J., & Gillmore, J. D. (2024). Impact of vutrisiran on exploratory cardiac parameters in hereditary transthyretin‐mediated amyloidosis with polyneuropathy. European Journal of Heart Failure, 26(2), 397–410. Portico. https://doi.org/10.1002/ejhf.3138
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Karam, C., Mauermann, M. L., Gonzalez‐Duarte, A., Kaku, M. C., Ajroud‐Driss, S., Brannagan, T. H., & Polydefkis, M. (2024). Diagnosis and treatment of hereditary transthyretin amyloidosis with polyneuropathy in the United States: Recommendations from a panel of experts. Muscle & Nerve, 69(3), 273–287. Portico. https://doi.org/10.1002/mus.28026
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Coelho, T., Dispenzieri, A., Grogan, M., Conceição, I., Waddington-Cruz, M., Kristen, A. V., Wixner, J., Diemberger, I., Gonzalez-Moreno, J., Maurer, M. S., Planté-Bordeneuve, V., Garcia-Pavia, P., Tournev, I., Gonzalez-Costello, J., Cariou, E., González-Duarte, A., Glass, O., Chapman, D., … Amass, L. (2023). Patients with transthyretin amyloidosis enrolled in THAOS between 2018 and 2021 continue to experience substantial diagnostic delay. Amyloid, 30(4), 445–448. https://doi.org/10.1080/13506129.2023.2229484
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Gentile, L., Coelho, T., Dispenzieri, A., Conceição, I., Waddington-Cruz, M., Kristen, A., Wixner, J., Diemberger, I., Gonzalez-Moreno, J., Cariou, E., Maurer, M. S., Planté-Bordeneuve, V., Garcia-Pavia, P., Tournev, I., Gonzalez-Costello, J., Duarte, A. G., Grogan, M., Mazzeo, A., … Chapman, D. (2023). A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS). Orphanet Journal of Rare Diseases, 18(1). https://doi.org/10.1186/s13023-023-02962-5
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Wardhere, A., Bampatsias, D., Fine, N., Garcia-Pavia, P., Grogan, M., Kristen, A. V., Damy, T., Sekijima, Y., & Maurer, M. S. (2023). Heterogeneous worldwide access and pricing of Tafamidis. Amyloid, 31(1), 73–75. https://doi.org/10.1080/13506129.2023.2263620
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Madhani, A., Sabogal, N., Massillon, D., Paul, L. D., Rodriguez, C., Fine, D., Helmke, S., Winburn, M., Kurian, D., Raiszadeh, F., Teruya, S., Cohn, E., Einstein, A. J., Miller, E. J., Connors, L. H., Maurer, M. S., & Ruberg, F. L. (2023). Clinical Penetrance of the Transthyretin V122I Variant in Older Black Patients With Heart Failure: The SCAN‐MP (Screening for Cardiac Amyloidosis With Nuclear Imaging in Minority Populations) Study. Journal of the American Heart Association, 12(15). https://doi.org/10.1161/jaha.122.028973
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Smiley, D. A., Einstein, A. J., Mintz, A., Shetty, M., Chan, N., Helmke, S. T., Bhatia, K., Goldner, K., Brannagan, T. H., Santana, D. D., & Maurer, M. S. (2023). Gene Silencing Therapy in Hereditary (Variant) Transthyretin Cardiac Amyloidosis: A Puzzling Case of Decreasing Pyrophosphate Uptake on Scintigraphy. Circulation: Cardiovascular Imaging, 16(8). https://doi.org/10.1161/circimaging.123.015243
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Rosenblum, H. R., Griffin, J. M., Minamisawa, M., Prasad, N., Vest, J., White, M. T., Solomon, S. D., Burkhoff, D., & Maurer, M. S. (2023). Effect of patisiran on stroke volume in hereditary transthyretin‐mediated amyloidosis: insights from pressure–volume analysis of the APOLLO study. European Journal of Heart Failure, 25(5), 727–736. Portico. https://doi.org/10.1002/ejhf.2783
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Ruberg, F. L., Blaner, W. S., Chiuzan, C., Connors, L. H., Einstein, A. J., Fine, D., Helmke, S., Kurian, D., Pandey, S., Raiszadeh, F., Rodriguez, C., Sabogal, N., Teruya, S., Winburn, M., Chung, W. K., Cohn, E., Miller, E. J., Kelly, J. W., & Maurer, M. S. (2023). Design and Rationale the SCAN‐MP (Screening for Cardiac Amyloidosis With Nuclear Imaging in Minority Populations) Study. Journal of the American Heart Association, 12(8). https://doi.org/10.1161/jaha.122.028534
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Saef, J., Martyn, T., Ives, L., Roth, L. R., Grodin, J. L., Maurer, M. S., Hanna, M., & Tang, W. H. W. (2023). Predictive Modeling to Assess Pretest Probability of Transthyretin Gene Variants Based on Demographic Information. Circulation: Heart Failure, 16(4). https://doi.org/10.1161/circheartfailure.122.009908
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Brannagan, T. H., Berk, J. L., Gillmore, J. D., Maurer, M. S., Waddington‐Cruz, M., Fontana, M., Masri, A., Obici, L., Brambatti, M., Baker, B. F., Hannan, L. A., Buchele, G., Viney, N. J., Coelho, T., & Nativi‐Nicolau, J. (2022). Liver‐directed drugs for transthyretin‐mediated amyloidosis. Journal of the Peripheral Nervous System, 27(4), 228–237. Portico. https://doi.org/10.1111/jns.12519
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Brannagan, T. H., Coelho, T., Wang, A. K., Polydefkis, M. J., Dyck, P. J., Berk, J. L., Drachman, B., Gorevic, P., Whelan, C., Conceição, I., Plante-Bordeneuve, V., Merlini, G., Obici, L., Plana, J. M. C., Gamez, J., Kristen, A. V., Mazzeo, A., Gentile, L., … Narayana, A. (2022). Long-term efficacy and safety of inotersen for hereditary transthyretin amyloidosis: NEURO-TTR open-label extension 3-year update. Journal of Neurology, 269(12), 6416–6427. https://doi.org/10.1007/s00415-022-11276-8
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Dispenzieri, A., Coelho, T., Conceição, I., Waddington-Cruz, M., Wixner, J., Kristen, A. V., Rapezzi, C., Planté-Bordeneuve, V., Gonzalez-Moreno, J., Maurer, M. S., Grogan, M., Chapman, D., Amass, L., Pavia, P. G., Tarnev, I., Costello, J. G., Briseno, M. A. G. D., Schmidt, H., … Zivkovic, S. (2022). Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update. Orphanet Journal of Rare Diseases, 17(1). https://doi.org/10.1186/s13023-022-02359-w
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Cuddy, S. A., Datar, Y., Ovsak, G., Saith, S., Murphy, S. P., Bay, C. P., Haddad, M., Lilleness, B., Muralidhar, V., Pipilas, A., Vuong, J., Guardino, E., Maurer, M. S., Ruberg, F. L., Falk, R. H., & Dorbala, S. (2022). Optimal Echocardiographic Parameters to Improve the Diagnostic Yield of Tc-99m-Bone Avid Tracer Cardiac Scintigraphy for Transthyretin Cardiac Amyloidosis. Circulation: Cardiovascular Imaging, 15(11). https://doi.org/10.1161/circimaging.122.014645
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Barroso, F. A., Coelho, T., Dispenzieri, A., Conceição, I., Waddington-Cruz, M., Wixner, J., Maurer, M. S., Rapezzi, C., Planté-Bordeneuve, V., Kristen, A. V., González-Duarte, A., Chapman, D., Stewart, M., & Amass, L. (2022). Characteristics of patients with autonomic dysfunction in the Transthyretin Amyloidosis Outcomes Survey (THAOS). Amyloid, 29(3), 175–183. https://doi.org/10.1080/13506129.2022.2043270
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Poterucha, T. J., Kurian, D., Raiszadeh, F., Teruya, S., Elias, P., Kogan, R., Chiuzan, C., Einstein, A. J., Ruberg, F. L., & Maurer, M. S. (2022). Relation of Body Mass Index to Transthyretin Cardiac Amyloidosis Particularly in Black and Hispanic Patients (from the SCAN-MP Study). The American Journal of Cardiology, 177, 116–120. https://doi.org/10.1016/j.amjcard.2022.05.003
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Batra, J., Rosenblum, H., Cappelli, F., Zampieri, M., Olivotto, I., Griffin, J. M., Saith, S. E., Teruya, S., De Los Santos, J., Argiro, A., Burkhoff, D., Perfetto, F., & Maurer, M. S. (2022). Racial Differences in Val122Ile-Associated Transthyretin Cardiac Amyloidosis. Journal of Cardiac Failure, 28(6), 950–959. https://doi.org/10.1016/j.cardfail.2021.12.016
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Parcha, V., Malla, G., Irvin, M. R., Armstrong, N. D., Judd, S. E., Lange, L. A., Maurer, M. S., Levitan, E. B., Goyal, P., Arora, G., & Arora, P. (2022). Association of Transthyretin Val122Ile Variant With Incident Heart Failure Among Black Individuals. JAMA, 327(14), 1368. https://doi.org/10.1001/jama.2022.2896
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Griffin, J. M., Baughan, E., Rosenblum, H., Clerkin, K. J., Fried, J. A., Raikhelkar, J., Uriel, N., Brannagan, T. H., Takeda, K., Grodin, J. L., Marboe, C., Maurer, M. S., & Farr, M. A. (2022). Surveillance for disease progression of transthyretin amyloidosis after heart transplantation in the era of novel disease modifying therapies. The Journal of Heart and Lung Transplantation, 41(2), 199–207. https://doi.org/10.1016/j.healun.2021.10.007
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