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2. Creation of an open-access, mutation-defined fibroblast resource for neurological disease research.

Author

Selina Wray, Matthew Self, NINDS Parkinson's Disease iPSC Consortium, NINDS Huntington's Disease iPSC Consortium, NINDS ALS iPSC Consortium, Patrick A Lewis, Jan-Willem Taanman, Natalie S Ryan, Colin J Mahoney, Yuying Liang, Michael J Devine, Una-Marie Sheerin, Henry Houlden, Huw R Morris, Daniel Healy, Jose-Felix Marti-Masso, Elisavet Preza, Suzanne Barker, Margaret Sutherland, Roderick A Corriveau, Michael D'Andrea, Anthony H V Schapira, Ryan J Uitti, Mark Guttman, Grzegorz Opala, Barbara Jasinska-Myga, Andreas Puschmann, Christer Nilsson, Alberto J Espay, Jaroslaw Slawek, Ludwig Gutmann, Bradley F Boeve, Kevin Boylan, A Jon Stoessl, Owen A Ross, Nicholas J Maragakis, Jay Van Gerpen, Melissa Gerstenhaber, Katrina Gwinn, Ted M Dawson, Ole Isacson, Karen S Marder, Lorraine N Clark, Serge E Przedborski, Steven Finkbeiner, Jeffrey D Rothstein, Zbigniew K Wszolek, Martin N Rossor, and John Hardy

Subjects
Medicine, Science
Abstract

Our understanding of the molecular mechanisms of many neurological disorders has been greatly enhanced by the discovery of mutations in genes linked to familial forms of these diseases. These have facilitated the generation of cell and animal models that can be used to understand the underlying molecular pathology. Recently, there has been a surge of interest in the use of patient-derived cells, due to the development of induced pluripotent stem cells and their subsequent differentiation into neurons and glia. Access to patient cell lines carrying the relevant mutations is a limiting factor for many centres wishing to pursue this research. We have therefore generated an open-access collection of fibroblast lines from patients carrying mutations linked to neurological disease. These cell lines have been deposited in the National Institute for Neurological Disorders and Stroke (NINDS) Repository at the Coriell Institute for Medical Research and can be requested by any research group for use in in vitro disease modelling. There are currently 71 mutation-defined cell lines available for request from a wide range of neurological disorders and this collection will be continually expanded. This represents a significant resource that will advance the use of patient cells as disease models by the scientific community.

Published
2012
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3. Safety and efficacy of valbenazine for the treatment of chorea associated with Huntington's disease (KINECT-HD): a phase 3, randomised, double-blind, placebo-controlled trial

Author

Erin Furr Stimming, Daniel O Claassen, Elise Kayson, Jody Goldstein, Raja Mehanna, Hui Zhang, Grace S Liang, Dietrich Haubenberger, Jamie Adams, Christopher Beck, Cheryl Chen, Martha Nance, Claudia Testa, Patricia Huffman, Amy Chesire, Frederick Marshall, Praveen Dayalu, Angela Stovall, Deborah Hall, Jacob Hawkins, Letty Ginsburg, Henry Moore, Tiago Mestre, Tanya Thompson, Natalie Connors, H. Diana Rosas, Allison Daley, Sandra K. Kostyk, Casey Mitchell, Amy Hellman, Sheryl Houston, Danielle Buchanan, Katherine McDonell, Stewart A. Factor, Elaine Sperin, Andrea Hurt, Joanne Wojcieszek, Mike Adurogbangba, Lynn A. Raymond, Jody Corey-Bloom, Chase Snell, Courtney Blair, Victor Sung, Sophia Antonioli, Jacqueline Fung, Simon Laganiere, Luis Sierra, William M. Mallonee, Greg Suter, Danny Bega, Zsa Zsa Brown, Lawrence Elmer, Nancy Vollmar, Debra del Castillo, Yi-Han Lin, Kelly Andrzejewski, Patricia Weigel, Trevor Hawkins, Kendra Kirby, Cimmaron Retzik-Stahr, Lauren Seeberger, Rohit Dhall, Anja Rassmann, McKenzie Luxmore, Burton Scott, James Boyd, Katherine Chan, Nikolaus McFarland, Kyle Rizer, Patricia Conlon, Valerie Suski, Federico Rodriguez-Porcel, Sandra Wilson, Christine Farrell, David Hunter, David Houghton, Sarah Seoane, Clare Gibbons, Philippe Rizek, Robin Kuprewicz, Steven Lo, Miroslav Cuturic, Vicki Segro, Kate Greenly, Fredy Revilla, Enrique Urrea-Mendoza, Kevin J. Black, Thomas Davis, Natividad Stover, Andrew Duker, Jay Van Gerpen, Peter Hedera, William Ondo, Karen Anderson, Stephen Bradley, Ken Cheung, and Samuel Frank

Subjects
Neurology (clinical)
Published
2023

4. Combined pergolide-associated valvular heart disease and achilles tendon contractures

Author

Peter T. Dorsher, Jay Van Gerpen, William D. Edwards, William D. Freeman, and Robert E. Safford

Subjects
Pergolide, medicine.medical_specialty, lcsh:R5-920, Contracture, business.industry, General surgery, valvular heart disease, Heart Valve Diseases, Parkinson Disease, General Medicine, medicine.disease, Achilles Tendon, Dopamine Agonists, medicine, Humans, Achilles tendon contracture, Female, business, lcsh:Medicine (General), medicine.drug, Aged
Abstract

1 Department of Neurology, Mayo Clinic San Pablo Road South, Jacksonville Florida 32224, USA 2 Department of Physical Medicine and Rehabilitation, Mayo Clinic, San Pablo Road South, Jacksonville, Florida 32224 USA 3 Department of Cardiology, Mayo Clinic 4500 San Pablo Road South, Jacksonville Florida 32224, USA 4 Department of Pathology, Mayo Clinic 200 First Street SW, Rochester, Minnesota 55905, USA

Published
2012

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