Prognostic clinical and biological markers for amyotrophic lateral sclerosis disease progression: validation and implications for clinical trial design and analysisResearch in context

Autor: Michael Benatar, Eric A. Macklin, Andrea Malaspina, Mary-Louise Rogers, Eran Hornstein, Vittoria Lombardi, Danielle Renfrey, Stephanie Shepheard, Iddo Magen, Yahel Cohen, Volkan Granit, Jeffrey M. Statland, Jeannine M. Heckmann, Rosa Rademakers, Caroline A. McHutchison, Leonard Petrucelli, Corey T. McMillan, Joanne Wuu, Lauren Elman, John Ravits, Jonathan Katz, Jaya Trivedi, Andrea Swenson, Ted M. Burns, James Caress, Carlayne Jackson, Samuel Maiser, Erik P. Pioro, Yuen So

Publikováno v: EBioMedicine, Vol 108, Iss , Pp 105323- (2024)

Summary: Background: With increasing recognition of the value of incorporating prognostic markers into amyotrophic lateral sclerosis (ALS) trial design and analysis plans, there is a pressing need to understand which among the prevailing clinical and

Externí odkaz: https://doaj.org/article/e1d4a293db1a412aa52ac92f571d2d19

Effectiveness of long-term noninvasive ventilation measured by remote monitoring in neuromuscular disease

Autor: Jeremy E. Orr, Kenneth Chen, Florin Vaida, Christopher N. Schmickl, Chamindra G. Laverty, John Ravits, Daniel Lesser, Rakesh Bhattacharjee, Atul Malhotra, Robert L. Owens

Publikováno v: ERJ Open Research, Vol 9, Iss 5 (2023)

Background and objective Patients with neuromuscular disease are often treated with home noninvasive ventilation (NIV) with devices capable of remote patient monitoring. We sought to determine whether long-term NIV data could provide insight into the

Externí odkaz: https://doaj.org/article/5262b94905b742128d43f55016162192

Machine learning suggests polygenic risk for cognitive dysfunction in amyotrophic lateral sclerosis

Autor: Katerina Placek, Michael Benatar, Joanne Wuu, Evadnie Rampersaud, Laura Hennessy, Vivianna M Van Deerlin, Murray Grossman, David J Irwin, Lauren Elman, Leo McCluskey, Colin Quinn, Volkan Granit, Jeffrey M Statland, Ted M Burns, John Ravits, Andrea Swenson, Jon Katz, Erik P Pioro, Carlayne Jackson, James Caress, Yuen So, Samuel Maiser, David Walk, Edward B Lee, John Q Trojanowski, Philip Cook, James Gee, Jin Sha, Adam C Naj, Rosa Rademakers, The CReATe Consortium, Wenan Chen, Gang Wu, J Paul Taylor, Corey T McMillan

Publikováno v: EMBO Molecular Medicine, Vol 13, Iss 1, Pp 1-18 (2020)

Abstract Amyotrophic lateral sclerosis (ALS) is a multi‐system disease characterized primarily by progressive muscle weakness. Cognitive dysfunction is commonly observed in patients; however, factors influencing risk for cognitive dysfunction remai

Externí odkaz: https://doaj.org/article/c97ccf4df05c438e987a0ef12c4302e4

An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients

Autor: Jonathan Li, Ryan G. Lim, Julia A. Kaye, Victoria Dardov, Alyssa N. Coyne, Jie Wu, Pamela Milani, Andrew Cheng, Terri G. Thompson, Loren Ornelas, Aaron Frank, Miriam Adam, Maria G. Banuelos, Malcolm Casale, Veerle Cox, Renan Escalante-Chong, J. Gavin Daigle, Emilda Gomez, Lindsey Hayes, Ronald Holewenski, Susan Lei, Alex Lenail, Leandro Lima, Berhan Mandefro, Andrea Matlock, Lindsay Panther, Natasha Leanna Patel-Murray, Jacqueline Pham, Divya Ramamoorthy, Karen Sachs, Brandon Shelley, Jennifer Stocksdale, Hannah Trost, Mark Wilhelm, Vidya Venkatraman, Brook T. Wassie, Stacia Wyman, Stephanie Yang, Jennifer E. Van Eyk, Thomas E. Lloyd, Steven Finkbeiner, Ernest Fraenkel, Jeffrey D. Rothstein, Dhruv Sareen, Clive N. Svendsen, Leslie M. Thompson, Hemali Phatnani, PhD, Justin Kwan, MD, Dhruv Sareen, PhD, James R. Broach, PhD, Zachary Simmons, MD, Ximena Arcila-Londono, MD, Edward B. Lee, MD, PhD, Vivianna M. Van Deerlin, MD, PhD, Neil A. Shneider, MD, PhD, Ernest Fraenkel, PhD, Lyle W. Ostrow, MD, PhD, Frank Baas, MD, PhD, Noah Zaitlen, PhD, James D. Berry, MD, MPH, Andrea Malaspina, MD, PhD, Pietro Fratta, MD, PhD, Gregory A. Cox, PhD, Leslie M. Thompson, PhD, Steve Finkbeiner, MD, PhD, Efthimios Dardiotis, MD, PhD, Timothy M. Miller, MD, PhD, Siddharthan Chandran, PhD, Suvankar Pal, MD, Eran Hornstein, MD, PhD, Daniel J. MacGowan, MD, Terry Heiman-Patterson, MD, Molly G. Hammell, PhD, Nikolaos.A. Patsopoulos, MD, PhD, Oleg Butovsky, PhD, Joshua Dubnau, PhD, Avindra Nath, MD, Robert Bowser, PhD, Matt Harms, MD, Mary Poss, DVM, PhD, Jennifer Phillips-Cremins, PhD, John Crary, MD, PhD, Nazem Atassi, MD, Dale J. Lange, MD, Darius J. Adams, MD, Leonidas Stefanis, MD, PhD, Marc Gotkine, MD, Robert H. Baloh, MD. PhD, Suma Babu, MBBS, MPH, Towfique Raj, PhD, Sabrina Paganoni, MD, PhD, Ophir Shalem, PhD, Colin Smith, MD, Bin Zhang, PhD, Brent Harris, MD, PhD, Iris Broce, PhD, Vivian Drory, MD, John Ravits, MD, Corey McMillan, PhD, Vilas Menon, PhD, Lani Wu, PhD, Steven Altschuler, PhD

Publikováno v: iScience, Vol 24, Iss 11, Pp 103221- (2021)

Summary: Neurodegenerative diseases are challenging for systems biology because of the lack of reliable animal models or patient samples at early disease stages. Induced pluripotent stem cells (iPSCs) could address these challenges. We investigated D

Externí odkaz: https://doaj.org/article/b0aa201abf104ba08a6430dac01837c5

Properties of LINE-1 proteins and repeat element expression in the context of amyotrophic lateral sclerosis

Autor: Gavin C. Pereira, Laura Sanchez, Paul M. Schaughency, Alejandro Rubio-Roldán, Jungbin A. Choi, Evarist Planet, Ranjan Batra, Priscilla Turelli, Didier Trono, Lyle W. Ostrow, John Ravits, Haig H. Kazazian, Sarah J. Wheelan, Sara R. Heras, Jens Mayer, Jose Luis García-Pérez, John L. Goodier

Publikováno v: Mobile DNA, Vol 9, Iss 1, Pp 1-30 (2018)

ABSTRACT Background Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease involving loss of motor neurons and having no known cure and uncertain etiology. Several studies have drawn connections between altered retrotransposon expre

Externí odkaz: https://doaj.org/article/4c05b9012a7d41358fb9b99446dd09e9