Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Lucy McGavin"'
Autor:
Lettie E Rawlins, Hashem Almousa, Shazia Khan, Stephan C Collins, Miroslav P Milev, Joseph Leslie, Djenann Saint-Dic, Valeed Khan, Ana Maria Hincapie, Jacob O Day, Lucy McGavin, Christine Rowley, Gaurav V Harlalka, Valerie E Vancollie, Wasim Ahmad, Christopher J Lelliott, Asma Gul, Binnaz Yalcin, Andrew H Crosby, Michael Sacher, Emma L Baple
Publikováno v:
PLoS Genetics, Vol 18, Iss 3, p e1010114 (2022)
The highly evolutionarily conserved transport protein particle (TRAPP) complexes (TRAPP II and III) perform fundamental roles in subcellular trafficking pathways. Here we identified biallelic variants in TRAPPC10, a component of the TRAPP II complex,
Externí odkaz:
https://doaj.org/article/5c426a88bf9249aa9daecb2e85ea53bb
Autor:
Holly A Roy, Natasha Cascini, Bini Ajay, Sudipta Mukherjee, Lucy McGavin, Alice Inman, Robert Wilkinson, Peter C Whitfield
Publikováno v:
Advances in Clinical Neuroscience & Rehabilitation, Vol 20, Iss 4, Pp 26-28 (2021)
In a world of increasing globalisation, Neurosurgeons need to be able to diagnose and treat neurosurgical conditions which may not be common to the local population. To illustrate this, we describe the case of an intracranial tuberculoma presenting i
Externí odkaz:
https://doaj.org/article/1dfe161fcf0540a58b280814a051d986
Autor:
Nishanka Ubeyratna, Joseph S Leslie, Reham Khalaf-Nazzal, Andrew H. Crosby, Ramez Zeid, Nouar Qutob, Adam C. Gunning, Fida' Al-Hijawi, Wisam Baker, Lucy McGavin, Peter D. Turnpenny, James Fasham, Siying Lin, Emma L. Baple
Publikováno v:
European Journal of Human Genetics
Isolated mitochondrial complex II deficiency is a rare cause of mitochondrial respiratory chain disease. To date biallelic variants in three genes encoding mitochondrial complex II molecular components have been unequivocally associated with mitochon
Publikováno v:
British Journal of Neurosurgery. 35:352-357
Intradural arachnoid cyst is a rare complication of lumbar puncture, post-trauma or post-intraoperative durotomies. We aim to estimate the incidence of early intradural arachnoid cyst radiologically in non-instrumented posterior lumbar decompression
Autor:
Jennifer E. Posey, James R. Lupski, Joseph S Leslie, Harold E. Cross, Claire G. Salter, James Fasham, Nikol Voutsina, Olivia J. Rickman, Zeynep Coban Akdemir, Adam C. Gunning, Shalini N. Jhangiani, Andrew H. Crosby, Emma L. Baple, Lucy McGavin
Publikováno v:
Parkinsonism & Related Disorders. 82:84-86
Mitochondria membrane protein-associated neurodegeneration (MPAN) neurodegenerative disorder is typically associated with biallelic C19orf12 variants. Here we describe a new and review candidate previous monoallelic de novo C19orf12 variants to defin
Autor:
Megan Courtman, Mark Thurston, Lucy McGavin, Camille Caroll, Lingfen Sun, Emmanuel Ifeachor, Stephen Mullin
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 93:e2.45
BackgroundThere is a need for diagnostic tests of early PD diagnosis. A subset of AI known as deep learning (DL) has shown great promise in diagnostic medical imaging, sometimes outperforming radiolo- gists by detecting patterns invisible to the huma
Publikováno v:
British journal of neurosurgery. 35(6)
Introduction There are a number of prognostic markers (methylation, CDKN2A/B) described to be useful for the stratification of meningiomas. However, there are currently no clinically validated biomarkers for the preoperative prediction of meningioma
Autor:
Amoolya Mannava, Lucy McGavin
Publikováno v:
Neuroimaging Techniques in Clinical Practice ISBN: 9783030484187
Magnetic resonance spectroscopy (MRS) is an established, non-invasive imaging technique for quantifying regional tissue biochemistry. It forms a valuable technique for the research and clinical evaluation of various neurological diseases. This chapte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dbb0ce838a48862b5cce2274c5de3550
https://doi.org/10.1007/978-3-030-48419-4_17
https://doi.org/10.1007/978-3-030-48419-4_17
Autor:
Jeffrey P. Lorberbaum, Donna R. Roberts, Ziad Nahas, Lucy Mcgavin, Ananda Shastri, Daryl E. Bohning, Kathleen A. McConnell, Mark S. George
Publikováno v:
Investigative Radiology. 35:676-683
RATIONALE AND OBJECTIVES. The relatively high temporal and spatial resolution of functional MR imaging was used to compare the blood oxygenation level dependent (BOLD) response associated with movement induced by transcranial magnetic stimulation (TM
Autor:
Rawlins, Lettie E.1,2 (AUTHOR), Almousa, Hashem3 (AUTHOR), Khan, Shazia1,4 (AUTHOR), Collins, Stephan C.5,6 (AUTHOR), Milev, Miroslav P.3 (AUTHOR), Leslie, Joseph1 (AUTHOR), Saint-Dic, Djenann3 (AUTHOR), Khan, Valeed7 (AUTHOR), Hincapie, Ana Maria3 (AUTHOR), Day, Jacob O.1,8 (AUTHOR), McGavin, Lucy9 (AUTHOR), Rowley, Christine10 (AUTHOR), Harlalka, Gaurav V.1,11 (AUTHOR), Vancollie, Valerie E.10 (AUTHOR), Ahmad, Wasim12 (AUTHOR), Lelliott, Christopher J.10 (AUTHOR), Gul, Asma4 (AUTHOR), Yalcin, Binnaz5,6 (AUTHOR), Crosby, Andrew H.1 (AUTHOR), Sacher, Michael3,13 (AUTHOR)
Publikováno v:
PLoS Genetics. 3/17/2022, Vol. 18 Issue 3, p1-20. 20p.