Inotersen: new promise for the treatment of hereditary transthyretin amyloidosis

Autor: Annabel K. Wang, Veena Mathew

Publikováno v: Drug Design, Development and Therapy. 13:1515-1525

Hereditary transthyretin amyloidosis is a fatal autosomal dominant disorder characterized by deposition of transthyretin amyloid into the peripheral nervous system, heart, kidney, and gastrointestinal tract. Previous treatments using liver transplant

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cd5bb7ab5f11a19b4eccd2c1d8cea2d2
https://doi.org/10.2147/dddt.s162913

Genotype-phenotype study in patients with valosin-containing protein mutations associated with multisystem proteinopathy

Autor: Tahseen Mozaffar, Charles D. Smith, Virginia Kimonis, Ebaa Al-Obeidi, Abhilasha Surampalli, Namita Goyal, Andreas Hermann, Molly Omizo, Annabel K. Wang, Sejad Al-Tahan

Publikováno v: Clinical Genetics. 93:119-125

Mutations in valosin-containing protein (VCP), an ATPase involved in protein degradation and autophagy, cause VCP disease, a progressive autosomal dominant adult onset multisystem proteinopathy. The goal of this study is to examine if phenotypic diff

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::151ef5a52bb805cf5966f6e783cc4f47
https://doi.org/10.1111/cge.13095

Assessing mNIS+7 Ionis and international neurologists' proficiency in a familial amyloidotic polyneuropathy trial

Autor: Karen A. Lodermeier, Thomas H. Brannagan, Joao Vasco Ferreira, Steven G. Hughes, Violaine Planté-Bordeneuve, Rickey E. Carter, Jessica Robinson-Papp, Rito Bergemann, Peter J. Dyck, Christina Alves, Julie Khoury, John C. Kincaid, John L. Berk, Matilde Laura, Samar S. Ayache, Carol J. Whelan, Brian M. Drachman, Isabel Conceição, Merrill D. Benson, Sami Khella, Michael Polydefkis, Teresa Coelho, Morie A. Gertz, William J. Litchy, Hayet Salhi, Vinay Chaudhry, Stephen B. Heitner, David H. Adams, Giampaolo Merlini, Andrea Cortese, Janice F. Wiesman, P. James B. Dyck, Namita Goyal, Márcio Cardoso, Christopher J. Klein, Katherine Ruzhansky, Annabel K. Wang, Michelle L. Mauermann, Marcus V. Pinto, Márcia Waddington-Cruz, Jenny L. Davies, Céline Labeyrie, Peter D. Gorevic, Elizabeth J. Ackermann

Publikováno v: Muscle & Nerve. 56:901-911

Introduction Polyneuropathy signs (Neuropathy Impairment Score, NIS), neurophysiologic tests (m+7Ionis ), disability, and health scores were assessed in baseline evaluations of 100 patients entered into an oligonucleotide familial amyloidotic polyneu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::87068ae77771d9d1a58bb08875422543
https://doi.org/10.1002/mus.25563

Editorial by concerned physicians: Unintended effect of the orphan drug act on the potential cost of 3,4-diaminopyridine

Autor: Mark B. Bromberg, Miriam Freimer, Nizar Chahin, Laurie Gutmann, Mohammad Salajegheh, Kelly G. Gwathmey, Tyler A. Webb, David P. Richman, Aziz Shaibani, Guillermo Solorzano, Elliot L. Dimberg, Janice M. Massey, Rabi Tawil, James Gilchrist, Michael Benatar, Jeffrey A. Allen, Anthony J. Windebank, Summer Gibson, William J. Litchy, Yuebing Li, Amanda C. Guidon, James A. Russell, Vern C. Juel, William S. David, Shafeeq Ladha, Tahseen Mozaffar, Shawn J. Bird, David Saperstein, Chafic Karam, Noah Kolb, Gordon Smith, Gil I. Wolfe, W. David Arnold, Nicholas E. Johnson, Eric L. Logigian, John C. Kincaid, Duygu Selcen, Annabel K. Wang, Matthew N. Meriggioli, Andrew G. Engel, Pariwat Thaisetthawatkul, Lyle Ostrow, Yuen T. So, Jau Shin Lou, Michael K. Hehir, Eric J. Sorenson, P. James B. Dyck, George Sachs, Julie Khoury, Namita Goyal, Jeffrey T. Guptill, Jinny Tavee, Robert M. Pascuzzi, Jeffrey A. Cohen, Michael D. Weiss, Ted M. Burns, Yadollah Harati, Peter D. Donofrio, Jayashri Srinivasen, Perry B. Shieh, Daniel G Larriviere, Mark A. Ferrante, Sidney M. Gospe, Kathleen D. Kennelly, John T. Kissel, Clifton L. Gooch, Carlayne E. Jackson, Dmitri Gorelov, Nicholas Silvestri, Katherine Ruzhansky, Daniel J L Macgowen, Joon Shik Moon, Jonathan Goldstein, Robert G. Miller, Devon I. Rubin, Karissa L. Gable, Richard J. Barohn, Charles A. Thornton, Emma Ciafaloni, C. Michel Harper, Sarah M. Jones, Ricardo A. Maselli, J. Rob Singleton, Michelle M Mauermann, Brian A. Crum, James F. Howard, Erik R. Ensrud, Sami Khella, Mark A. Ross, Lisa D. Hobson-Webb, Sharon P. Nations, Stephen N. Scelsa, Katherine D. Mathews, Henry J. Kaminski, Andrea M. Corse, Amanda Peltier, Anthony A. Amato, Richard A. Lewis, Steven Vernino, Richard Nowak, Eduardo A De Sousa, Ludwig Gutmann, Benn E. Smith, Brent P. Goodman, David Lacomis, Jaya Trivedi

Publikováno v: Muscle & Nerve. 53:165-168

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::85e9be0fcef30554515b732404e80edd
https://doi.org/10.1002/mus.25009

An aggressive form of transthyretin amyloidosis

Autor: Annabel K. Wang, Noel R. Dasgupta, Merrill D. Benson, Joyce Hardwick

Publikováno v: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis. 24(sup1)

In 1990, Ueno et al. identified a new transthyretin (TTR) mutation in a 45-year-old Japanese man with peripheral neuropathy of six-years duration [1]. This mutation, Ser50Arg, was the result of a s...

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b20ceebadf78655470b94184db333be
https://pubmed.ncbi.nlm.nih.gov/28434309