Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Cathy E Woodward"'
Autor:
Sanjeev Rajakulendran, Robert D S Pitceathly, Jan-Willem Taanman, Harry Costello, Mary G Sweeney, Cathy E Woodward, Zane Jaunmuktane, Janice L Holton, Thomas S Jacques, Brian N Harding, Carl Fratter, Michael G Hanna, Shamima Rahman
Publikováno v:
PLoS ONE, Vol 11, Iss 1, p e0145500 (2016)
Mutations in the nuclear gene POLG (encoding the catalytic subunit of DNA polymerase gamma) are an important cause of mitochondrial disease. The most common POLG mutation, A467T, appears to exhibit considerable phenotypic heterogeneity. The mechanism
Externí odkaz:
https://doaj.org/article/ec6375b1818241cab0f1ce4c29b4eb0c
Autor:
William L. Macken, Micol Falabella, Caroline McKittrick, Chiara Pizzamiglio, Rebecca Ellmers, Kelly Eggleton, Cathy E. Woodward, Yogen Patel, Robyn Labrum, Genomics England Research Consortium, Rahul Phadke, Mary M. Reilly, Catherine DeVile, Anna Sarkozy, Emma Footitt, James Davison, Shamima Rahman, Henry Houlden, Enrico Bugiardini, Rosaline Quinlivan, Michael G. Hanna, Jana Vandrovcova, Robert D. S. Pitceathly
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-9 (2022)
Whole genome sequencing is emerging as a first-line test for rare genetic diseases. In this study, authors maximise diagnoses by supplementing existing semiautomated analyses with clinically driven reevaluation of genomic data by a specialist multidi
Externí odkaz:
https://doaj.org/article/08d61047bd944df7b04fb88435d3cd14
Autor:
Chiara Pizzamiglio, Enrico Bugiardini, William L. Macken, Cathy E. Woodward, Michael G. Hanna, Robert D. S. Pitceathly
Publikováno v:
Genes, Vol 12, Iss 10, p 1643 (2021)
Mitochondrial stroke-like episodes (SLEs) are a hallmark of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). They should be suspected in anyone with an acute/subacute onset of focal neurological symptoms at any age
Externí odkaz:
https://doaj.org/article/abcd4817efd846f98f40a4653b2eea9e
Autor:
Róisín M. Boggan, Yi Shiau Ng, Imogen G. Franklin, Charlotte L. Alston, Emma L. Blakely, Boriana Büchner, Enrico Bugiardini, Kevin Colclough, Catherine Feeney, Michael G. Hanna, Andrew T. Hattersley, Thomas Klopstock, Cornelia Kornblum, Michelangelo Mancuso, Kashyap A. Patel, Robert D. S. Pitceathly, Chiara Pizzamiglio, Holger Prokisch, Jochen Schäfer, Andrew M. Schaefer, Maggie H. Shepherd, Annemarie Thaele, Rhys H Thomas, Doug M. Turnbull, Cathy E. Woodward, Gráinne S. Gorman, Robert McFarland, Robert W. Taylor, Heather J. Cordell, Sarah J. Pickett
Maternally inherited mitochondrial diseases are caused by pathogenic mitochondrial (mt)DNA variants. Affecting individuals at any age, they are often multi-systemic and manifest extreme clinical variability. We have limited understanding of the cause
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bae12a4d9113f080953b92861f1f30e5
https://doi.org/10.1101/2022.11.18.22282450
https://doi.org/10.1101/2022.11.18.22282450
Autor:
William L. Macken, Enrico Bugiardini, Cathy E. Woodward, Robert D S Pitceathly, Michael G. Hanna, Chiara Pizzamiglio
Publikováno v:
Genes
Volume 12
Issue 10
Genes, Vol 12, Iss 1643, p 1643 (2021)
Volume 12
Issue 10
Genes, Vol 12, Iss 1643, p 1643 (2021)
Mitochondrial stroke-like episodes (SLEs) are a hallmark of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). They should be suspected in anyone with an acute/subacute onset of focal neurological symptoms at any age
Autor:
Micol Falabella, Luis Carlos Tabara, Olivia V. Poole, Takashi Tatsuta, Shanti Lu, Cathy E. Woodward, Robyn Labrum, Channa Hewamadduma, Erika Fernandez-Vizarra, Thomas Langer, Jan-Willem Taanman, Michael G. Hanna, Julien Prudent, Antonella Spinazzola, Robert D.S. Pitceathly
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Bioenergetics. 1863:148844
Autor:
Petros Syrris, Enrico Bugiardini, Cathy E. Woodward, Michael G. Hanna, Marta Futema, Joanna Jager, Robert D S Pitceathly, Alan Pittman, Perry M. Elliott, Reem Salem, David Murphy, Luis R. Lopes, Mohammed M Akhtar, Konstantinos Savvatis
Publikováno v:
Circulation: Genomic and Precision Medicine. 14
Autor:
Damian Kozyra, Michael G. Hanna, Sami Amawi, Olivia V. Poole, Allan H. Young, N. James, Alessandro Colasanti, I Skorupinska, Rosaline Quinlivan, L. Germain, Robert D S Pitceathly, M Skorupinska, Sarah J. Holmes, Enrico Bugiardini, Cathy E. Woodward
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 91:892-894
Primary mitochondrial diseases (PMD) are heterogeneous disorders caused by mutations in nuclear DNA-encoded and mitochondrial DNA (mtDNA)-encoded genes. Neurological impairment is common and reflects the susceptibility of the central nervous system t
Autor:
Enrico Bugiardini, Cathy E. Woodward, Amanda Lam, Robert D S Pitceathly, Michael G. Hanna, Sonia Gandhi, Olivia V. Poole, Ros Quinlivan, Chris M. Everett, Silvia Marino
Publikováno v:
Mitochondrion. 47:294-297
Adult-onset Leigh syndrome is a rare but important manifestation of mitochondrial disease. We report a 17 year old female who presented with subacute encephalopathy, brainstem and extrapyramidal signs, raised CSF lactate, and symmetrical hyperintensi
Autor:
Cathy E. Woodward, Thomas S. Jacques, Paul Gissen, Simon Heales, Jane A. Hurst, Richard H Scott, Emma Footitt, Sanjay Bhate, Shamima Rahman, James Davison, Stephanie Grunewald, Patrick Forny, Thomas Cullup, Spyros Batzios, Maureen Cleary, Anupam Chakrapani, Amanda Lam
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
article-version (Version of Record) 3
ObjectiveWe hypothesized that novel investigative pathways are needed to decrease diagnostic odysseys in pediatric mitochondrial disease and sought to determine the utility of clinical exome sequencing in a large cohort with suspected mitochondrial d