Zobrazeno 1 - 10
of 54
pro vyhledávání: '"Andrew P Schaefer"'
Autor:
Mehdi Hemmati, Sayaka Ishizawa, Rafael Meza, Edwin Ostrin, Samir M. Hanash, Mara Antonoff, Andrew J. Schaefer, Martin C. Tammemägi, Iakovos Toumazis
Publikováno v:
EClinicalMedicine, Vol 74, Iss , Pp 102743- (2024)
Summary: Background: Lung cancer screening recommendations employ annual frequency for eligible individuals, despite evidence that it may not be universally optimal. The impact of imposing a structure on the screening frequency remains unknown. The E
Externí odkaz:
https://doaj.org/article/9f8ed164955f488d98792a93bf2cdb73
Autor:
Mehdi Hemmati, Carly Barbon, Abdallah S. R. Mohamed, Lisanne V. vanDijk, Amy C. Moreno, Neil D. Gross, Ryan P. Goepfert, Stephen Y. Lai, Katherine A. Hutcheson, Andrew J. Schaefer, Clifton D. Fuller, for the MD Anderson Head and Neck Cancer Symptom Working Group
Publikováno v:
Cancer Medicine, Vol 12, Iss 4, Pp 5088-5098 (2023)
Abstract Background A primary goal in transoral robotic surgery (TORS) for oropharyngeal squamous cell cancer (OPSCC) survivors is to optimize swallowing function. However, the uncertainty in the outcomes of TORS including postoperative residual posi
Externí odkaz:
https://doaj.org/article/5098bb66db0145ea8527845230ce9198
Autor:
Direnis Erdinc, Alejandro Rodríguez‐Luis, Mahmoud R Fassad, Sarah Mackenzie, Christopher M Watson, Sebastian Valenzuela, Xie Xie, Katja E Menger, Kate Sergeant, Kate Craig, Sila Hopton, Gavin Falkous, Genomics England Research Consortium, Joanna Poulton, Hector Garcia‐Moreno, Paola Giunti, Carlos A deMoura Aschoff, Jonas A Morales Saute, Amelia J Kirby, Camilo Toro, Lynne Wolfe, Danica Novacic, Lior Greenbaum, Aviva Eliyahu, Ortal Barel, Yair Anikster, Robert McFarland, Gráinne S Gorman, Andrew M Schaefer, Claes M Gustafsson, Robert W Taylor, Maria Falkenberg, Thomas J Nicholls
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 5, Pp n/a-n/a (2023)
Abstract Topoisomerase 3α (TOP3A) is an enzyme that removes torsional strain and interlinks between DNA molecules. TOP3A localises to both the nucleus and mitochondria, with the two isoforms playing specialised roles in DNA recombination and replica
Externí odkaz:
https://doaj.org/article/c9e7e4ced0784d4394725c67d2a116f4
Autor:
Naomi Warren, Andrew M Schaefer, Robert W Taylor, Emma L Blakely, Sila Hopton, Menatalla Elwan, Kate Craig, Gavin Falkous
Publikováno v:
BMJ Neurology Open, Vol 4, Iss 2 (2022)
Background Mitochondrial disorders are known to cause diverse neurological phenotypes which cause a diagnostic challenge to most neurologists. Pathogenic polymerase gamma (POLG) variants have been described as a cause of chronic progressive external
Externí odkaz:
https://doaj.org/article/34f9d3512f6e4f2d80f53aa2bcfd5e5b
Autor:
JoAnna K. Leyenaar, Corrie E. McDaniel, Stephanie C. Acquilano, Andrew P. Schaefer, Martha L. Bruce, A. James O’Malley
Publikováno v:
Trials, Vol 21, Iss 1, Pp 1-11 (2020)
Abstract Background Approximately 2 million children are hospitalized each year in the United States, with more than three-quarters of non-elective hospitalizations admitted through emergency departments (EDs). Direct admission, defined as admission
Externí odkaz:
https://doaj.org/article/154f3d577fa547fabd48528ef344500b
Autor:
John P Bourke, Robert McFarland, John O'Sullivan, Yi Shiau Ng, Doug M Turnbull, Albert Zishen Lim, Daniel M Jones, Matthew G D Bates, Andrew M Schaefer, Catherine Feeney, Maria E Farrugia, Gráinne S Gorman
Publikováno v:
Open Heart, Vol 8, Iss 1 (2021)
Objective Regular cardiac surveillance is advocated for patients with primary mitochondrial DNA disease. However, there is limited information to guide clinical practice in mitochondrial conditions caused by nuclear DNA defects. We sought to determin
Externí odkaz:
https://doaj.org/article/90054628b24a4e5babbabd4aa95f3898
Autor:
Heather L. Moore, Thomas Kelly, Alexandra Bright, Robert H. Field, Andrew M. Schaefer, Alasdair P. Blain, Robert W. Taylor, Robert McFarland, Doug M. Turnbull, Gráinne S. Gorman
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 5, Pp 826-836 (2019)
Abstract Objective To determine the cognitive profile of adult patients with mitochondrial disease, and the effect of disease severity on cognition. Methods Using a prospective case‐control design, we compared cognition of patients to normative dat
Externí odkaz:
https://doaj.org/article/f867092267ad45ff9f7263569a957034
Autor:
Yi Shiau Ng, Kyle Thompson, Daniela Loher, Sila Hopton, Gavin Falkous, Steven A. Hardy, Andrew M. Schaefer, Sandip Shaunak, Mark E. Roberts, James B. Lilleker, Robert W. Taylor
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
Mitochondrial complex I deficiency is associated with a diverse range of clinical phenotypes and can arise due to either mitochondrial DNA (mtDNA) or nuclear gene defects. We investigated two adult patients who exhibited non-syndromic neurological fe
Externí odkaz:
https://doaj.org/article/8915da29156e45bda3e021d246a36389
Autor:
Yi Shiau Ng, Laurence A. Bindoff, Gráinne S. Gorman, Rita Horvath, Thomas Klopstock, Michelangelo Mancuso, Mika H. Martikainen, Robert Mcfarland, Victoria Nesbitt, Robert D. S. Pitceathly, Andrew M. Schaefer, Doug M. Turnbull
Publikováno v:
Wellcome Open Research, Vol 4 (2019)
Background: Focal-onset seizures and encephalopathy are prominent features of a stroke-like episode, which is a severe neurological manifestation associated with subtypes of mitochondrial disease. Despite more than 30 years of research, the acute tre
Externí odkaz:
https://doaj.org/article/25b451bec90b4c3ab265f9e6984ed32a
Autor:
Yi Shiau Ng, Nichola Z. Lax, Paul Maddison, Charlotte L. Alston, Emma L. Blakely, Philippa D. Hepplewhite, Gillian Riordan, Surita Meldau, Patrick F. Chinnery, Germaine Pierre, Efstathia Chronopoulou, Ailian Du, Imelda Hughes, Andrew A. Morris, Smaragda Kamakari, Georgia Chrousos, Richard J. Rodenburg, Christiaan G.J. Saris, Catherine Feeney, Steven A. Hardy, Takafumi Sakakibara, Akira Sudo, Yasushi Okazaki, Kei Murayama, Helen Mundy, Michael G. Hanna, Akira Ohtake, Andrew M. Schaefer, Mike P. Champion, Doug M. Turnbull, Robert W. Taylor, Robert D.S. Pitceathly, Robert McFarland, Gráinne S. Gorman
Publikováno v:
EBioMedicine, Vol 30, Iss , Pp 86-93 (2018)
Mutations in the m.13094T>C MT-ND5 gene have been previously described in three cases of Leigh Syndrome (LS). In this retrospective, international cohort study we identified 20 clinically affected individuals (13 families) and four asymptomatic carri
Externí odkaz:
https://doaj.org/article/3670bb9d88df4ad19193530872b41183