Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Catherine Ashton"'
Autor:
Wai Yan Yau, Catherine Ashton, Eoin Mulroy, Thomas Foltynie, Patricia Limousin, Jana Vandrovcova, Kunal P. Verma, Rick Stell, Mark Davis, Phillipa Lamont
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 6, Pp 1636-1642 (2024)
Abstract While biallelic POLR3A loss‐of‐function variants are traditionally linked to hypomyelinating leukodystrophy, patients with a specific splice variant c.1909+22G>A manifest as adolescent‐onset spastic ataxia without overt leukodystrophy.
Externí odkaz:
https://doaj.org/article/606a1f831e304ba5bf12d09ef1a9615f
Autor:
David Pellerin, Felix Heindl, Carlo Wilke, Matt C. Danzi, Andreas Traschütz, Catherine Ashton, Marie-Josée Dicaire, Alexanne Cuillerier, Giulia Del Gobbo, Kym M. Boycott, Jens Claassen, Dan Rujescu, Annette M. Hartmann, Stephan Zuchner, Bernard Brais, Michael Strupp, Matthis Synofzik
Publikováno v:
EBioMedicine, Vol 102, Iss , Pp 105076- (2024)
Summary: Background: GAA-FGF14 disease/spinocerebellar ataxia 27B is a recently described neurodegenerative disease caused by (GAA)≥250 expansions in the fibroblast growth factor 14 (FGF14) gene, but its phenotypic spectrum, pathogenic threshold, a
Externí odkaz:
https://doaj.org/article/6a45cfb1de324e61a33fa2a7a9970a69
Autor:
Catherine Ashton, Janavi Dunuwille
Publikováno v:
BMJ Neurology Open, Vol 3, Iss Suppl 1 (2021)
Externí odkaz:
https://doaj.org/article/e36a51f1abcd45c0b65b3a4e97f44403
Autor:
Catherine Ashton, Merrilee Needham
Publikováno v:
Advances in Clinical Neuroscience & Rehabilitation, Vol , Iss (2017)
Necrotising Autoimmune Myopathy is a subacute proximal myopathy with high creatine kinase levels and biopsy findings of necrotic and regenerating fibres with minimal inflammation. It is associated with anti-SRP and anti-HMGCR antibodies, malignancy a
Externí odkaz:
https://doaj.org/article/13e451654cbb4a7ba344577c1b9281fa
Autor:
Luc Gauthier, Fernanda Almeida, Patrick Arcache, Catherine Ashton-McGregor, David Côté, Helen Driver, Kathleen Ferguson, Gilles Lavigne, Philippe Martin, Jean-François Masse, Florence Morisson, Jeffrey Pancer, Charles Samuels, Maurice Schachter, Frédéric Sériès, Glendon Sullivan
Publikováno v:
Canadian Respiratory Journal, Vol 19, Iss 5, Pp 307-309 (2012)
The present Canadian position paper contains recommendations for the management by dentists of sleep-disordered breathing in adults with the use of oral appliances (OAs) as a treatment option for snoring and obstructive sleep apnea (OSA). The recomme
Externí odkaz:
https://doaj.org/article/e5da9a926bf64e9dae20b4a5b25eeae9
Publikováno v:
Journal of Neuromuscular Diseases. 9:615-618
A 38-year-old pregnant woman presented at 30 weeks gestation in respiratory distress with pre-eclampsia. This was on the background of slowly progressive dyspnoea over six years, with generalised weakness and previous surgery for ptosis and prognathi
Autor:
David Pellerin, Giulia Del Gobbo, Madeline Couse, Egor Dolzhenko, Marie-Josée Dicaire, Adriana Rebelo, Virginie Roth, Marion Wandzel, Céline Bonnet, Catherine Ashton, Phillipa J. Lamont, Nigel G. Laing, Mathilde Renaud, Gianina Ravenscroft, Henry Houlden, Matthis Synofzik, Michael A. Eberle, Kym M. Boycott, Tomi Pastinen, Bernard Brais, Stephan Zuchner, Matt C. Danzi
The factors driving initiation of pathological expansion of tandem repeats remain largely unknown. Here, we assessed theFGF14-SCA27B (GAA)•(TTC) repeat locus in 2,530 individuals by long-read and Sanger sequencing and identified a 5’-flanking 17-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bf990e3deb6283fbbf55b68f47fd0412
https://doi.org/10.1101/2023.05.11.540430
https://doi.org/10.1101/2023.05.11.540430
Autor:
David, Pellerin, Matt C, Danzi, Carlo, Wilke, Mathilde, Renaud, Sarah, Fazal, Marie-Josée, Dicaire, Carolin K, Scriba, Catherine, Ashton, Christopher, Yanick, Danique, Beijer, Adriana, Rebelo, Clarissa, Rocca, Zane, Jaunmuktane, Joshua A, Sonnen, Roxanne, Larivière, David, Genís, Laura, Molina Porcel, Karine, Choquet, Rawan, Sakalla, Sylvie, Provost, Rebecca, Robertson, Xavier, Allard-Chamard, Martine, Tétreault, Sarah J, Reiling, Sara, Nagy, Vikas, Nishadham, Meera, Purushottam, Seena, Vengalil, Mainak, Bardhan, Atchayaram, Nalini, Zhongbo, Chen, Jean, Mathieu, Rami, Massie, Colin H, Chalk, Anne-Louise, Lafontaine, François, Evoy, Marie-France, Rioux, Jiannis, Ragoussis, Kym M, Boycott, Marie-Pierre, Dubé, Antoine, Duquette, Henry, Houlden, Gianina, Ravenscroft, Nigel G, Laing, Phillipa J, Lamont, Mario A, Saporta, Rebecca, Schüle, Ludger, Schöls, Roberta, La Piana, Matthis, Synofzik, Stephan, Zuchner, Bernard, Brais
Publikováno v:
The New England journal of medicine.
The late-onset cerebellar ataxias (LOCAs) have largely resisted molecular diagnosis.We sequenced the genomes of six persons with autosomal dominant LOCA who were members of three French Canadian families and identified a candidate pathogenic repeat e
Publikováno v:
Neurology Genetics. 9:e200067
ObjectivesTo report a novel likely pathogenic variant in theSERAC1gene associated with early adult-onset parkinsonism and progressive dystonia.MethodsClinical, biochemical, and imaging assessments were performed on 2 affected adult brothers with a ge
Autor:
S Ralhan, Nicola Curry, Jason E Smith, Jonathan P. Coles, Simon J. Stanworth, Catherine Ashton, Fiona Lecky, Michael Laffan, Pja Hutchinson
IntroductionPatients aged 60 or over account for over half of the severely injured trauma patients and a traumatic brain injury is the most common injury sustained. Many of these patients are taking antiplatelet medications but there is clinical equi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fd4da683145ae7a34790a627febabd9
https://www.repository.cam.ac.uk/handle/1810/323751
https://www.repository.cam.ac.uk/handle/1810/323751