Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Devon L. Johnstone"'
Publikováno v:
Internal and emergency medicine. 17(5)
Autor:
Devon L Johnstone, Matthew W Loranger
Publikováno v:
University of Ottawa Journal of Medicine, Vol 6, Iss 1 (2016)
Dr. Andrew Pipe is chief of the division of Prevention and Rehabilitation at the University of Ottawa Heart Institute and Professor in the Faculty of Medicine at the University of Ottawa. He completed his medical training at Queen’s University, and
Externí odkaz:
https://doaj.org/article/da8610646e9f452297217c4198d2fae9
Autor:
Rebecca C. Spillmann, Nissan V. Baratang, Kym M. Boycott, Karen W. Gripp, Taila Hartley, Anik St-Denis, Philippe M. Campeau, Kristin D. Kernohan, Erik A. Eklund, Jessica L. Zambonin, Loren D M Pena, Michael T. Geraghty, Andrew C. Edmondson, Jacek Majewski, Hugh J. McMillan, Allan Bayat, Miao He, Manuela Pendziwiat, Eric Bareke, Andrea Guerin, Thi Tuyet Mai Nguyen, Julie Richer, Devon L. Johnstone, Hilde M. H. Braakman
Publikováno v:
Johnstone, D L, Nguyen, T T M, Zambonin, J, Kernohan, K D, St-Denis, A, Baratang, N V, Hartley, T, Geraghty, M T, Richer, J, Majewski, J, Bareke, E, Guerin, A, Pendziwiat, M, Pena, L D M, Braakman, H M H, Grip, K W, Edmondson, A C, He, M, Spillmann, R C, Eklund, E A, Bayat, A, Network, U D, McMillan, H J, Boycott, K M, Campeau, P M & Care4Rare Canada Consortium 2020, ' Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ : Report of seven new subjects and review of the literature ', Journal of Inherited Metabolic Disease, vol. 43, no. 6, pp. 1321-1332 . https://doi.org/10.1002/jimd.12278
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease
We investigated seven children from six families to expand the phenotypic spectrum associated with an early infantile epileptic encephalopathy caused by biallelic pathogenic variants in the phosphatidylinositol glycan anchor biosynthesis class Q (PIG
Autor:
Delphine Héron, Wendy Mears, Smrithi Salian, William Boyce Burns, Julia Russo, Elliot S. Stolerman, Valentina Serpieri, David A. Dyment, Philippe M. Campeau, Susanne Morlot, Kristin Herman, Thi Tuyet Mai Nguyen, Ginevra Zanni, Boris Keren, Rachel Rock, Raffaella Cusmai, Efrat Sofrin-Drucker, Hannah Wallaschek, Alison M.R. Castle, Julie R. Jones, Devon L. Johnstone, Haim Bassan
Publikováno v:
Neurology Genetics
Neurology Genetics, American Academy of Neurology, 2021, 7 (6), pp.e631. ⟨10.1212/NXG.0000000000000631⟩
Neurology Genetics, American Academy of Neurology, 2021, 7 (6), pp.e631. ⟨10.1212/NXG.0000000000000631⟩
Background and ObjectivesTo expand the clinical knowledge of GPAA1-related glycosylphosphatidylinositol (GPI) deficiency.MethodsAn international case series of 7 patients with biallelic GPAA1 variants were identified. Clinical, biochemical, and neuro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f35b417666bc25381eeb42bc61aaf37f
https://hal.sorbonne-universite.fr/hal-03409007
https://hal.sorbonne-universite.fr/hal-03409007
Autor:
Alison M R, Castle, Smrithi, Salian, Haim, Bassan, Efrat, Sofrin-Drucker, Raffaella, Cusmai, Kristin C, Herman, Delphine, Heron, Boris, Keren, Devon L, Johnstone, Wendy, Mears, Susanne, Morlot, Thi Tuyet Mai, Nguyen, Rachel, Rock, Elliot, Stolerman, Julia, Russo, William Boyce, Burns, Julie R, Jones, Valentina, Serpieri, Hannah, Wallaschek, Ginevra, Zanni, David A, Dyment, Philippe M, Campeau
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
article-version (Version of Record) 3
Background and Objectives To expand the clinical knowledge of GPAA1-related glycosylphosphatidylinositol (GPI) deficiency. Methods An international case series of 7 patients with biallelic GPAA1 variants were identified. Clinical, biochemical, and ne
Autor:
Vishal Saxena, Nathalie Lepage, Marc Ekker, Kate Daniel, Alex MacKenzie, Izabella A. Pena, Pranesh Chakraborty, David A. Dyment, Kym M. Boycott, Devon L. Johnstone, Hellen Weinschutz Mendes, Yann Roussel, Marjolein Bosma, Tuan V. Bui, Clara D.M. van Karnebeek, Kevin Mongeon, Nanda M. Verhoeven-Duif
Publikováno v:
Genetics, 207(4), 1501. Genetics Society of America
Genetics, 207(4), 1501-1518. Genetics Society of America
Genetics
Genetics, 207(4), 1501-1518. Genetics Society of America
Genetics
Pyridoxine-dependent epilepsy (PDE) is a severe neonatal seizure disorder and is here modeled in aldh7a1 -/- zebrafish. Mutant larvae display spontaneous..
Pyridoxine-dependent epilepsy (PDE) is a rare disease characterized by mutations in the l
Pyridoxine-dependent epilepsy (PDE) is a rare disease characterized by mutations in the l
Autor:
Taila Hartley, Thi-Tuyet-Mai Nguyen, Jacek Majewski, Anik St-Denis, Philippe M. Campeau, David A. Dyment, Taroh Kinoshita, Françoise Le Deist, Devon L. Johnstone, Yoshiko Murakami, Asif Doja, Claire Goldsmith, Martine Tétreault, Justin D. Wagner, Kym M. Boycott, Kristin D. Kernohan, Dennis E. Bulman, Lijia Huang
Publikováno v:
Human Molecular Genetics. 26:1706-1715
There are over 150 known human proteins which are tethered to the cell surface via glycosylphosphatidylinositol (GPI) anchors. These proteins play a variety of important roles in development, and particularly in neurogenesis. Not surprisingly, mutati
Autor:
Jacek Majewski, Nanda M. Verhoeven-Duif, Wyeth W. Wasserman, Ido P. Kema, Yoko Ito, Laufey Yr Sigurdardottir, Georgianne L. Arnold, Erica H. Gerkes, Megan T. Cho, Izabella A. Pena, Tuan Bui, Clara D.M. van Karnebeek, Scott Demarest, Ron A. Wevers, Amna Al Futaisi, Matthew A. Lines, Colin J. D. Ross, Ronald J.A. Wanders, Sander M. Houten, M. Rebecca Heiner-Fokkema, Sara Violante, Nicole I. Wolf, Jan M. Friedman, Heather E. Olson, Kevin Ban, Hilal H. Al-Shekaili, Autumn S Ivy, David A. Koolen, Judith J.M. Jans, Elise Brimble, Kristin D. Kernohan, Erik-Jan Kamsteeg, Carlo W.T. van Roermund, Skye McBride, Kym M. Boycott, Devon L. Johnstone, Sandra Noble, Rana Abdelrahim, Yann Roussel, Roshan Koul, Britt I. Drögemöller, Nathalie Lepage, Maartje Boon, Marjolein Bosma, Amber Begtrup, Khalid Al-Thihli, Jolita Ciapaite, Ceres Kosuta, Maja Tarailo-Graovac, Martijn van Faassen, Charlotte A. Haaxma, Marc Ekker, David A. Dyment
Publikováno v:
Brain, 142, 542-559
Brain, 142, 542-559. Oxford University Press
Brain : a journal of neurology, 142(3), 542. Oxford University Press
Brain, 142, 3, pp. 542-559
Brain, 142, 542-559. Oxford University Press
Brain : a journal of neurology, 142(3), 542. Oxford University Press
Brain, 142, 3, pp. 542-559
Contains fulltext : 202680.pdf (Publisher’s version ) (Closed access) Biallelic pathogenic variants in PLPBP (formerly called PROSC) have recently been shown to cause a novel form of vitamin B6-dependent epilepsy, the pathophysiological basis of wh
Publikováno v:
Molecular Ecology. 22:2394-2407
We describe temporal changes in the genetic composition of a small anadromous Atlantic salmon (Salmo salar) population from South Newfoundland, an area where salmon populations are considered threatened (COSEWIC 2010). We examined the genetic variabi
Autor:
Matthew W Loranger, Devon L. Johnstone
Publikováno v:
University of Ottawa Journal of Medicine, Vol 6, Iss 1 (2016)
Dr. Andrew Pipe is chief of the division of Prevention and Rehabilitation at the University of Ottawa Heart Institute and Professor in the Faculty of Medicine at the University of Ottawa. He completed his medical training at Queen’s University, and