Zobrazeno 1 - 10
of 163
pro vyhledávání: '"Katrina, Gwinn"'
Autor:
Heather L. Benz, Brittany Caldwell, John P. Ruiz, Anindita Saha, Martin Ho, Stephanie Christopher, Dawn Bardot, Margaret Sheehan, Anne Donnelly, Lauren McLaughlin, Brennan Mange, A. Brett Hauber, Katrina Gwinn, William J. Heetderks, Murray Sheldon
Publikováno v:
MDM Policy & Practice, Vol 6 (2021)
Introduction. A growing literature has developed on identifying outcomes that matter to patients. This study demonstrates an approach involving patient and regulatory perspectives to identify outcomes that are meaningful in the context of medical dev
Externí odkaz:
https://doaj.org/article/6a7002492e084b97aa87470ac6820e3a
Autor:
Brett Hauber, Brennan Mange, Mo Zhou, Shomesh Chaudhuri, Heather L. Benz, Brittany Caldwell, John P. Ruiz, Anindita Saha, Martin Ho, Stephanie Christopher, Dawn Bardot, Margaret Sheehan, Anne Donnelly, Lauren McLaughlin, Katrina Gwinn, Andrew Lo, Murray Sheldon
Publikováno v:
MDM Policy & Practice, Vol 6 (2021)
Background. Parkinson’s disease (PD) is neurodegenerative, causing motor, cognitive, psychological, somatic, and autonomic symptoms. Understanding PD patients’ preferences for novel neurostimulation devices may help ensure that devices are delive
Externí odkaz:
https://doaj.org/article/aec26762b58a44ce9337a49683a4e5ca
Autor:
Walther Haenseler, Federico Zambon, Heyne Lee, Jane Vowles, Federica Rinaldi, Galbha Duggal, Henry Houlden, Katrina Gwinn, Selina Wray, Kelvin C. Luk, Richard Wade-Martins, William S. James, Sally A. Cowley
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-11 (2017)
Abstract To examine the pathogenic role of α-synuclein (αS) in Parkinson’s Disease, we have generated induced Pluripotent Stem Cell lines from early onset Parkinson’s Disease patients with SNCA A53T and SNCA Triplication mutations, and in this
Externí odkaz:
https://doaj.org/article/079e9c373cb245c5abd9ca8f629f34fc
Autor:
Lauren McLaughlin, Anne Donnelly, Katrina Gwinn, A. Brett Hauber, Heather L. Benz, John P. Ruiz, Margaret Sheehan, Murray Sheldon, William Heetderks, Anindita Saha, Stephanie Christopher, Dawn Bardot, Brennan Mange, Brittany Caldwell, Martin Ho
Publikováno v:
MDM Policy & Practice
MDM Policy & Practice, Vol 6 (2021)
MDM Policy & Practice, Vol 6 (2021)
Introduction. A growing literature has developed on identifying outcomes that matter to patients. This study demonstrates an approach involving patient and regulatory perspectives to identify outcomes that are meaningful in the context of medical dev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fa2e1d0100aa32a90ed59c6a91bd4ec
http://europepmc.org/articles/PMC8255597
http://europepmc.org/articles/PMC8255597
Autor:
Dawn Bardot, Lauren McLaughlin, Andrew W. Lo, Shomesh Chaudhuri, John P. Ruiz, Anne Donnelly, Anindita Saha, Margaret Sheehan, Heather L. Benz, Brett Hauber, Murray Sheldon, Katrina Gwinn, Stephanie Christopher, Brennan Mange, Mo Zhou, Brittany Caldwell, Martin Ho
Publikováno v:
MDM Policy & Practice, Vol 6 (2021)
MDM Policy & Practice
MDM Policy & Practice
Background. Parkinson’s disease (PD) is neurodegenerative, causing motor, cognitive, psychological, somatic, and autonomic symptoms. Understanding PD patients’ preferences for novel neurostimulation devices may help ensure that devices are delive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0309e85c7753e3d96a11042b9e9de08d
https://doaj.org/article/aec26762b58a44ce9337a49683a4e5ca
https://doaj.org/article/aec26762b58a44ce9337a49683a4e5ca
Autor:
Roneil Malkani, Ian D'Souza, Katrina Gwinn-Hardy, Gerard D. Schellenberg, John Hardy, Parastoo Momeni
Publikováno v:
Neurobiology of Disease, Vol 22, Iss 2, Pp 401-403 (2006)
We report here the genetic analysis of a newly ascertained kindred in which frontotemporal dementia occurs in an apparent autosomal dominant fashion, and in which a novel MAPT gene mutation co-segregates with disease. Sequencing the MAPT gene in affe
Externí odkaz:
https://doaj.org/article/ee662da0aab148958ca78c59774e69ee
Autor:
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, John Hardy
Publikováno v:
PLoS ONE, Vol 7, Iss 8, p e43099 (2012)
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
Externí odkaz:
https://doaj.org/article/9a35e1d7ec9b460c9b9c8d8637a681ec
Autor:
Eric R Londin, Margaret A Keller, Cathleen Maista, Gretchen Smith, Laura A Mamounas, Ran Zhang, Steven J Madore, Katrina Gwinn, Roderick A Corriveau
Publikováno v:
PLoS ONE, Vol 5, Iss 10, p e13443 (2010)
Genetic ancestry is known to impact outcomes of genotype-phenotype studies that are designed to identify risk for common diseases in human populations. Failure to control for population stratification due to genetic ancestry can significantly confoun
Externí odkaz:
https://doaj.org/article/21d3e51136834165a01df513ba57a27d
Autor:
Katrina Gwinn, Roderick A Corriveau, Hiroshi Mitsumoto, Kate Bednarz, Robert H Brown, Merit Cudkowicz, Paul H Gordon, John Hardy, Edward J Kasarskis, Petra Kaufmann, Robert Miller, Eric Sorenson, Rup Tandan, Bryan J Traynor, Josefina Nash, Alex Sherman, Matthew D Mailman, James Ostell, Lucie Bruijn, Valerie Cwik, Stephen S Rich, Andrew Singleton, Larry Refolo, Jaime Andrews, Ran Zhang, Robin Conwit, Margaret A Keller, ALS Research Group
Publikováno v:
PLoS ONE, Vol 2, Iss 12, p e1254 (2007)
Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease (MND). It is currently incurable and treatment is largely limited to supportive care. Family history is associated with an increased risk of ALS, and many Mendelian c
Externí odkaz:
https://doaj.org/article/810eaf8daa3c4dc8ab0673f7e64b23f9
Autor:
Joyce van de Leemput, Jayanth Chandran, Melanie A Knight, Lynne A Holtzclaw, Sonja Scholz, Mark R Cookson, Henry Houlden, Katrina Gwinn-Hardy, Hon-Chung Fung, Xian Lin, Dena Hernandez, Javier Simon-Sanchez, Nick W Wood, Paola Giunti, Ian Rafferty, John Hardy, Elsdon Storey, R J McKinlay Gardner, Susan M Forrest, Elizabeth M C Fisher, James T Russell, Huaibin Cai, Andrew B Singleton
Publikováno v:
PLoS Genetics, Vol 3, Iss 6, p e108 (2007)
We observed a severe autosomal recessive movement disorder in mice used within our laboratory. We pursued a series of experiments to define the genetic lesion underlying this disorder and to identify a cognate disease in humans with mutation at the s
Externí odkaz:
https://doaj.org/article/c07c3fcc18404aefa53f46f3f49c9ec0