Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders

Autor: Erica Waters, Holly Dubbs, Marjo S. van der Knaap, Sheel Pathak, Wendy G. Mitchell, Diane Masser-Frye, Ryan J. Taft, Guy Helman, Jamie L. Fraser, Elliott H. Sherr, Scott Demarest, Cas Simons, Samuel Mirrop, Amy Pizzino, Raphael Schiffmann, Geneviève Bernard, Keith Van Haren, Lisa Emrick, Katherine Dobbins, Jean Hayward, Ryan Boeck, Adeline Vanderver, Stephanie Keller, Justine Shults, Omar Sherbini, Jeffrey Cohn, Leah Zhorne, Abigail Collins, Jenny L. Wilson, Swati Karmarkar

Publikováno v: Vanderver, A, Bernard, G, Helman, G, Sherbini, O, Boeck, R, Cohn, J, Collins, A, Demarest, S, Dobbins, K, Emrick, L, Fraser, J, Masser-Frye, D, Hayward, J, Karmarkar, S, Keller, S, Mirrop, S, Mitchell, W, Pathak, S, Sherr, E, van Haren, K, Waters, E, Wilson, J L, Zhorne, L, Schiffmann, R, van der Knaap, M S, Pizzino, A, Dubbs, H, Shults, J, Simons, C, Taft, R J & LeukoSEQ Workgroup 2020, ' Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders ', Annals of Neurology, vol. 88, no. 2, pp. 264-273 . https://doi.org/10.1002/ana.25757
Annals of Neurology, 88(2), 264-273. John Wiley and Sons Inc.
Vanderver, A, Bernard, G, Helman, G, Sherbini, O, Boeck, R, Cohn, J, Collins, A, Demarest, S, Dobbins, K, Emrick, L, Fraser, J L, Masser-Frye, D, Hayward, J, Karmarkar, S, Keller, S, Mirrop, S, Mitchell, W, Pathak, S, Sherr, E, van Haren, K, Waters, E, Wilson, J L, Zhorne, L, Schiffmann, R, van der Knaap, M S, Pizzino, A, Dubbs, H, Shults, J, Simons, C & Taft, R J 2020, ' Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders ', Annals of Neurology, vol. 88, no. 2, pp. 264-273 . https://doi.org/10.1002/ana.25757
Ann Neurol

Objective: Genome sequencing (GS) is promising for unsolved leukodystrophies, but its efficacy has not been prospectively studied. Methods: A prospective time-delayed crossover design trial of GS to assess the efficacy of GS as a first-line diagnosti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c798ef1836684c5d69b82045a62458b
https://research.vu.nl/en/publications/3783dc8a-1138-4de5-8d27-fb325e625414

Prevalence of motor abnormalities among healthy 5-year-old children

Autor: Rita J. Jeremy, Yvonne W. Wu, Donna M. Ferriero, Petra Liljestrand, Gabriel J. Escobar, Jean Hayward, Thomas B. Newman

Publikováno v: Journal of Pediatric Neurology. :141-146

The prevalence of motor examination abnormalities among a general pediatric population is unknown. We determined the frequency of motor abnormalities noted at five years of age during a neurologic examination by a child neurologist. As part of a foll

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e7c5c3bd1f56c1197b736e06f852180a
https://doi.org/10.1055/s-0035-1557271

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

Autor: Silke Appenzeller, Rudi Balling, Nina Barisic, Stéphanie Baulac, Hande Caglayan, Dana Craiu, Peter De Jonghe, Christel Depienne, Petia Dimova, Tania Djémié, Padhraig Gormley, Renzo Guerrini, Ingo Helbig, Helle Hjalgrim, Dorota Hoffman-Zacharska, Johanna Jähn, Karl Martin Klein, Bobby Koeleman, Vladimir Komarek, Roland Krause, Gregor Kuhlenbäumer, Eric Leguern, Anna-Elina Lehesjoki, Johannes R. Lemke, Holger Lerche, Tarja Linnankivi, Carla Marini, Patrick May, Rikke S. Møller, Hiltrud Muhle, Deb Pal, Aarno Palotie, Manuela Pendziwiat, Angela Robbiano, Filip Roelens, Felix Rosenow, Kaja Selmer, Jose M. Serratosa, Sanjay Sisodiya, Ulrich Stephani, Katalin Sterbova, Pasquale Striano, Arvid Suls, Tiina Talvik, Sarah von Spiczak, Yvonne Weber, Sarah Weckhuysen, Federico Zara, Bassel Abou-Khalil, Brian K. Alldredge, Eva Andermann, Frederick Andermann, Dina Amrom, Jocelyn F. Bautista, Samuel F. Berkovic, Judith Bluvstein, Alex Boro, Gregory Cascino, Damian Consalvo, Patricia Crumrine, Orrin Devinsky, Dennis Dlugos, Michael P. Epstein, Miguel Fiol, Nathan B. Fountain, Jacqueline French, Daniel Friedman, Eric B. Geller, Tracy Glauser, Simon Glynn, Kevin Haas, Sheryl R. Haut, Jean Hayward, Sandra L. Helmers, Sucheta Joshi, Andres Kanner, Heidi E. Kirsch, Robert C. Knowlton, Eric H. Kossoff, Rachel Kuperman, Ruben Kuzniecky, Daniel H. Lowenstein, Shannon M. McGuire, Paul V. Motika, Edward J. Novotny, Ruth Ottman, Juliann M. Paolicchi, Jack Parent, Kristen Park, Annapurna Poduri, Lynette Sadleir, Ingrid E. Scheffer, Renée A. Shellhaas, Elliott Sherr, Jerry J. Shih, Rani Singh, Joseph Sirven, Michael C. Smith, Joe Sullivan, Liu Lin Thio, Anu Venkat, Eileen P.G. Vining, Gretchen K. Von Allmen, Judith L. Weisenberg, Peter Widdess-Walsh, Melodie R. Winawer, Andrew S. Allen, Patrick Cossette, Norman Delanty, Evan E. Eichler, David B. Goldstein, Yujun Han, Erin L. Heinzen, Michael R. Johnson, Anthony G. Marson, Heather C. Mefford, Sahar Esmaeeli Nieh, Terence J. O’Brien, Stephen Petrou, Slavé Petrovski, Elizabeth K. Ruzzo

Publikováno v: The American journal of human genetics
Møller, R S, EuroEPINOMICS RES Consortium, Epilepsy Phenome/Genome Project & Epi4K Consortium 2014, ' De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies ', American Journal of Human Genetics, vol. 95, no. 4, pp. 360-370 . https://doi.org/10.1016/j.ajhg.2014.08.013

Emerging evidence indicates that epileptic encephalopathies are genetically highly heterogeneous, underscoring the need for large cohorts of well-characterized individuals to further define the genetic landscape. Through a collaboration between two c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5621084f9d64cf23e269c01040b9b090
https://pubmed.ncbi.nlm.nih.gov/25262651

Transport of sugars into microvessels isolated from rat brain: a model for the blood-brain barrier

Autor: Martin R. Krigman, Jean Hayward, C. Robert Bagnell, Alan R. Kolber, Pierre Morell

Publikováno v: Journal of neurochemistry. 33(2)

— Microvessels (primarily capillaries) were isolated from the brains of rats 25-35 days of age. This preparation was characterized by light, transmission, and scanning electron microscopy. Transmission electron microscopy revealed that the endothel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95aeab9a3fecee8415c2254d90f8efa1
https://pubmed.ncbi.nlm.nih.gov/469532

Myocardial infarction following administration of sublingual ergotamine

Autor: James R. Foster, Ross J. Simpson, Robert Stem, Jean Hayward, Lawrence S. Klein

Publikováno v: Chest. 82(3)

Ergotamine is commonly used in the treatment of migraine headache. Since migraine may be associated with variant angina, some patients with migraine may develop coronary ischemia following therapy with ergotamine. We describe a young woman with migra

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a97fbbe5a129481f8102df7d40164dec
https://pubmed.ncbi.nlm.nih.gov/7105868