Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Sarah E. Buerki"'
Autor:
Michelle Demos, Ilaria Guella, Conrado DeGuzman, Marna B. McKenzie, Sarah E. Buerki, Daniel M. Evans, Eric B. Toyota, Cyrus Boelman, Linda L. Huh, Anita Datta, Aspasia Michoulas, Kathryn Selby, Bruce H. Bjornson, Gabriella Horvath, Elena Lopez-Rangel, Clara D. M. van Karnebeek, Ramona Salvarinova, Erin Slade, Patrice Eydoux, Shelin Adam, Margot I. Van Allen, Tanya N. Nelson, Corneliu Bolbocean, Mary B. Connolly, Matthew J. Farrer
Publikováno v:
Frontiers in Neurology, Vol 10 (2019)
Targeted whole-exome sequencing (WES) is a powerful diagnostic tool for a broad spectrum of heterogeneous neurological disorders. Here, we aim to examine the impact on diagnosis, treatment and cost with early use of targeted WES in early-onset epilep
Externí odkaz:
https://doaj.org/article/87c4911416cb4db6b35cb0e08dc098b1
Autor:
Nadia Bahi-Buisson, Christian Korff, Koen L.I. van Gassen, Nathalie Villeneuve, Heather C Mefford, Ronit M. Pressler, Anna Kaminska, Amélie Piton, Nienke E. Verbeek, Ingrid E. Scheffer, Lynette G. Sadleir, Alexandre N. Datta, Fiona Gardiner, Anne Lépine, J. Helen Cross, Matthieu Milh, Susanne Ruf, Gaetan Lesca, Bénédicte Héron, Sarah E. Buerki, Cyrill Mignot, Thierry Bienvenu, Anne de Saint Martin, Pia Zacher, Amy McTague, Johannes R. Lemke, Dorothée Ville
Publikováno v:
Epilepsia
Objective Asparagine‐linked glycosylation 13 (ALG13) deficiencies have been repeatedly described in the literature with the clinical phenotype of a developmental and epileptic encephalopathy (DEE). Most cases were females carrying the recurrent ALG
Autor:
Philip J. Broser, Anna-Bettina Haidich, Oliver Maier, Dimitra Lekaditi, Judith Peterli, Sarah E. Buerki
Publikováno v:
Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics.
Autor:
Sarah E. Buerki, Maja Steinlin, Alexandre N. Datta, Annette Hackenberg, Denis Grandgirard, Stephen L. Leib, Thomas Schmitt-Mechelke, Florence Martin
Publikováno v:
Pediatric Neurology Briefs
BACKGROUND The mechanisms of childhood and perinatal arterial ischemic stroke (AIS) are poorly understood. Multiple risk factors include cerebral arteriopathy, congenital cardiac disease, infection, sickle cell disease, and maternal-fetal conditions
Autor:
Erin Slade, Kathryn Selby, Bruce Bjornson, L Huh, Ilaria Guella, Corneliu Bolbocean, Tanya N. Nelson, Shelin Adam, Anita N Datta, Matthew J. Farrer, Clara D.M. van Karnebeek, Marna B. McKenzie, Patrice Eydoux, Sarah E. Buerki, Ramona Salvarinova, Eric B. Toyota, Daniel M. Evans, Aspasia Michoulas, Mary B. Connolly, E. Lopez-Rangel, Margot I. Van Allen, Michelle Demos, Gabriella Horvath, Cyrus Boelman
BackgroundTo examine the impact on diagnosis, treatment and cost with early use of targeted whole-exome sequencing (WES) in early-onset epilepsy.MethodsWES was performed on 50 patients with early-onset epilepsy (≤ 5 years) of unknown cause. Patient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b817664019292907dbfe13659b9ecb84
Autor:
Anna Lehman, Samrat Thouta, Grazia M.S. Mancini, Sakkubai Naidu, Marjon van Slegtenhorst, Kirsty McWalter, Richard Person, Jill Mwenifumbo, Ramona Salvarinova, Ilaria Guella, Marna B. McKenzie, Anita Datta, Mary B. Connolly, Somayeh Mojard Kalkhoran, Damon Poburko, Jan M. Friedman, Matthew J. Farrer, Michelle Demos, Sonal Desai, Thomas Claydon, Shelin Adam, Christèle du Souich, Alison M. Elliott, Tanya N. Nelson, Clara van Karnebeek, Cyrus Boelman, Corneliu Bolbocean, Sarah E. Buerki, Tara Candido, Patrice Eydoux, Daniel M. Evans, William Gibson, Gabriella Horvath, Linda Huh, Graham Sinclair, Tamsin Tarling, Eric B. Toyota, Katelin N. Townsend, Margot I. Van Allen, Suzanne Vercauteren
Publikováno v:
American Journal of Human Genetics, 101(1), 65-74. Cell Press
American journal of human genetics, 101(1), 65-74. Cell Press
American journal of human genetics, 101(1), 65-74. Cell Press
KCNQ5 is a highly conserved gene encoding an important channel for neuronal function; it is widely expressed in the brain and generates M-type current. Exome sequencing identified de novo heterozygous missense mutations in four probands with intellec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddf39d43d4ef59aeb45fbc0e2e368e19
https://pure.eur.nl/en/publications/6a775ea6-5579-4c93-bde2-33f9581bb3ec
https://pure.eur.nl/en/publications/6a775ea6-5579-4c93-bde2-33f9581bb3ec
Autor:
Matthew J. Farrer, Gregory M. Cooper, Mary B. Connolly, Margot I. Van Allen, Michelle L. Thompson, Linda Huh, Tanya N. Nelson, Marna B. McKenzie, Eric B. Toyota, Shelin Adam, Michelle Demos, E. Martina Bebin, Daniel M. Evans, Ilaria Guella, Sarah E. Buerki
Publikováno v:
Neurology: Genetics
Objective: We describe 2 additional patients with early-onset epilepsy with a de novo FGF12 mutation. Methods: Whole-exome sequencing was performed in 2 unrelated patients with early-onset epilepsy and their unaffected parents. Genetic variants were
Autor:
Michelle Demos, Eric B. Toyota, Tanya N. Nelson, Marna B. McKenzie, Aspasia Michoulas, Margot I. Van Allen, Colin Wilbur, Mary B. Connolly, Matthew J. Farrer, Ilaria Guella, Sarah E. Buerki, Shelin Adam, Anita N Datta, Daniel M. Evans
Publikováno v:
Pediatric neurology. 75
Background Pathogenic heterozygous variants in the ATP1A2 gene have most commonly been associated with familial hemiplegic migraine. However, a wide spectrum of phenotypes that include alternating hemiplegia of childhood and epilepsy have been descri
Autor:
Danielle Mercati, Maja Steinlin, Elmar Keller, Eugen Boltshauser, Caroline C. Menache, Juerg Luetschg, Sarah E. Buerki, Gian Paolo Ramelli, Luca Remonda, M Weissert, Katja Roellin, Pierre-Yves Jeannet, Thomas Schmitt-Mechelke
Publikováno v:
Developmental Medicine & Child Neurology. 52:1033-1037
Aim The aim of this study was to describe neuroimaging patterns associated with arterial ischaemic stroke (AIS) in childhood and to differentiate them according to stroke aetiology. Method Clinical and neuroimaging (acute and follow-up) findings were
Autor:
Maja Steinlin, Danielle Mercati, Oliver Maier, Lea Mazenauer, Sarah E. Buerki, Joel Victor Fluss, Sebastian Grunt, Alexandre N. Datta, Elmar Keller, Andrea Capone Mori, Gian-Paolo Ramelli, Eugen Boltshauser, Claudia Poloni, Thomas Schmitt-Mechelke
Publikováno v:
Pediatrics, Vol. 135, No 5 (2015) pp. e1220-e1228
BACKGROUND AND OBJECTIVES: Neonatal arterial ischemic stroke (NAIS) is associated with considerable lifetime burdens such as cerebral palsy, epilepsy, and cognitive impairment. Prospective epidemiologic studies that include outcome assessments are sc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::126d63fcb4cb65d97e8a766406781340
https://www.zora.uzh.ch/id/eprint/121031/
https://www.zora.uzh.ch/id/eprint/121031/