THE V122I MUTATION IN HEREDITARY TRANSTHYRETIN-MEDIATED AMYLOIDOSIS IS SIGNIFICANTLY ASSOCIATED WITH AN INCREASED INCIDENCE OF POLYNEUROPATHY

被引：0
作者：
Parker, Margaret
Damrauer, Scott
Erbe, David
Aldinc, Emre
Ticau, Simina
Flynn-Caroll, Alexander
Deaton, Aimee
Ward, Lucas
Rader, Daniel
Fitzgerald, Kevin
Vaishnaw, Akshay
Hinkle, Gregory
Nioi, Paul
机构：
来源：
MUSCLE & NERVE | 2020年 / 62卷
关键词：
D O I：
暂无
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
198
引用
收藏
页码：S107 / S107
页数：1
相关论文
共 50 条
[31]   Homozygosity for the V122I Mutation in Transthyretin Is Associated with Earlier Onset of Cardiac Amyloidosis in the African American Population in the Seventh Decade of Life [J].
Reddi, Honey V. ;
Jenkins, Sarah ;
Theis, Jason ;
Thomas, Brittany C. ;
Connors, Lawreen H. ;
Van Rhee, Frits ;
Highsmith, W. Edward, Jr. .
JOURNAL OF MOLECULAR DIAGNOSTICS, 2014, 16 (01) :68-74
[32]   Impact of Vutrisiran on Quality of Life and Physical Function in Patients with Hereditary Transthyretin-Mediated Amyloidosis with Polyneuropathy [J].
Obici, Laura ;
Ajroud-Driss, Senda ;
Lin, Kon-Ping ;
Berk, John L. ;
Gillmore, Julian D. ;
Kale, Parag ;
Koike, Haruki ;
Danese, David ;
Aldinc, Emre ;
Chen, Chongshu ;
Vest, John ;
Adams, David .
NEUROLOGY AND THERAPY, 2023, 12 (05) :1759-1775
[33]   Effectiveness of patisiran after switching from tafamidis for the treatment of hereditary transthyretin-mediated amyloidosis with polyneuropathy [J].
Labeyrie, Celine ;
Merkel, Madeline ;
Sethi, Sakshi ;
Popadic, Lyuba ;
Yang, Hongbo ;
Sweetser, Marianne T. ;
Lin, Hollis ;
Adams, David .
EUROPEAN JOURNAL OF NEUROLOGY, 2024, 31 (09)
[34]   VARIABLE PRESENTATION OF HOMOZYGOSITY FOR THE V122I MUTATION IN TRANSTHYRETIN IN TWO BROTHERS [J].
Lowell, Andrew ;
Lessen, Samantha ;
Gruber, Dorota ;
Stern, David Lee ;
Azari, Bani Mekisha .
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2023, 81 (08) :3556-3556
[35]   LONGTERM TREATMENT EFFECTS OF INOTERSEN ON QUALITY OF LIFE IN PATIENTS WITH HEREDITARY TRANSTHYRETIN-MEDIATED AMYLOIDOSIS WITH POLYNEUROPATHY [J].
Brown, Duncan ;
Karam, Chafic ;
Yang, Min ;
Done, Nicolae ;
Zhu, JingJing ;
Greatsinger, Ali ;
Bozas, Ana ;
Llonch, Montserrat Vera ;
Signorovitch, James .
MUSCLE & NERVE, 2021, 64 :S57-S57
[36]   Long-term Integrated Safety of Patisiran in Patients with Hereditary Transthyretin-Mediated Amyloidosis with Polyneuropathy [J].
Gillmore, Julian ;
Berk, John ;
Dispenzieri, Angela ;
Polydefkis, Michael ;
Gonzalez-Duarte, Alejandra ;
Sekijima, Yoshiki ;
Sweetser, Marianne T. ;
Arum, Seth ;
Wang, Jing Jing ;
White, Matthew T. ;
Maurer, Mathew .
JOURNAL OF CARDIAC FAILURE, 2020, 26 (10) :S67-S68
[37]   IDENTIFYING MIXED PHENOTYPE: EVALUATING THE PRESENCE OF POLYNEUROPATHY IN PATIENTS WITH HEREDITARY TRANSTHYRETIN-MEDIATED AMYLOIDOSIS WITH CARDIOMYOPATHY [J].
Grogan, Martha ;
Hawkins, Philip ;
Kristen, Arnt ;
Berk, John ;
Suhr, Ole B. ;
Lin, Hollis ;
Merkel, Madeline ;
McManus, Anastasia ;
Powell, Christine ;
Vest, John ;
Karsten, Verena ;
Judge, Daniel .
MUSCLE & NERVE, 2020, 62 :S107-S107
[38]   Identifying Mixed Phenotype: Evaluating the Presence of Polyneuropathy in Patients with Hereditary Transthyretin-Mediated Amyloidosis with Cardiomyopathy [J].
Merkel, Madeline ;
Grogan, Martha ;
Hawkins, Philip N. ;
Kristen, Arnt V. ;
Berk, John L. ;
Suhr, Ole B. ;
Lin, Hollis ;
McManus, Anastasia ;
Powell, Christine ;
Vest, John ;
Karsten, Verena ;
Judge, Daniel P. .
NEUROLOGY, 2020, 94 (15)
[39]   Efficacy and safety of vutrisiran for patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy: a randomized clinical trial [J].
Adams, David ;
Tournev, Ivailo L. ;
Taylor, Mark S. ;
Coelho, Teresa ;
Plante-Bordeneuve, Violaine ;
Berk, John L. ;
Gonzalez-Duarte, Alejandra ;
Gillmore, Julian D. ;
Low, Soon-Chai ;
Sekijima, Yoshiki ;
Obici, Laura ;
Chen, Chongshu ;
Badri, Prajakta ;
Arum, Seth M. ;
Vest, John ;
Polydefkis, Michael .
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, 2023, 30 (01) :18-26
[40]   Long-term integrated safety of patisiran in patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy [J].
Gillmore, J. ;
Berk, J. ;
Dispenzieri, A. ;
Polydefkis, M. ;
Gonzalez-Duarte, A. ;
Sekijima, Y. ;
Sweetser, M. T. ;
Arum, S. ;
Wang, J. J. ;
White, M. T. ;
Maurer, M. .
EUROPEAN HEART JOURNAL, 2020, 41 :2129-2129
12345