Zobrazeno 1 - 10
of 54
pro vyhledávání: '"Keith van Haren"'
Autor:
Jonathan D. Santoro, Laura E. Saucier, Runi Tanna, Sarah E. Wiegand, Dania Pagarkar, Adam F. Tempchin, Mellad Khoshnood, Nusrat Ahsan, Keith Van Haren
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Objective: Immunizations against Hepatitis B virus (HBV) and Varicella Zoster virus (VZV), are recommended for patients with pediatric onset multiple sclerosis (POMS) and may be required prior to initiation of some disease modifying therapies. Howeve
Externí odkaz:
https://doaj.org/article/8807abdef2c54fd78e8abecd47e05643
Autor:
Dohyup Kim, Emily E. Witt, Simone Schubert, Elias Sotirchos, Pavan Bhargava, Ellen M. Mowry, Karen Sachs, Biter Bilen, Lawrence Steinman, Avni Awani, Zihuai He, Peter A. Calabresi, Keith Van Haren
Publikováno v:
Nutrients, Vol 14, Iss 22, p 4737 (2022)
Vitamin D is a steroid hormone that has been widely studied as a potential therapy for multiple sclerosis and other inflammatory disorders. Pre-clinical studies have implicated vitamin D in the transcription of thousands of genes, but its influence m
Externí odkaz:
https://doaj.org/article/40453e4327184fe290cc851006086ac1
Autor:
Stephanie I. W. van de Stadt, Petra A. W. Mooyer, Inge M. E. Dijkstra, Conny J. M. Dekker, Divya Vats, Moin Vera, Maura R. Z. Ruzhnikov, Keith van Haren, Nelson Tang, Klaas Koop, Michel A. Willemsen, Joannie Hui, Frédéric M. Vaz, Merel S. Ebberink, Marc Engelen, Stephan Kemp, Sacha Ferdinandusse
Publikováno v:
Genes, Vol 12, Iss 12, p 1930 (2021)
Due to newborn screening for X-linked adrenoleukodystrophy (ALD), and the use of exome sequencing in clinical practice, the detection of variants of unknown significance (VUS) in the ABCD1 gene is increasing. In these cases, functional tests in fibro
Externí odkaz:
https://doaj.org/article/157aed7663c2431a83002773105448ce
Autor:
Moss Y. Zhao, Alex Dahlen, Norma Jimenez Ramirez, Michael Moseley, Keith Van Haren, Greg Zaharchuk
Publikováno v:
Journal of Neuroscience Research. 101:1086-1097
Publikováno v:
The Journal of Pediatrics. 248:122-125
Autor:
Wolfgang Köhler, Marc Engelen, Florian Eichler, Robin Lachmann, Ali Fatemi, Jacinda Sampson, Ettore Salsano, Josep Gamez, Maria Judit Molnar, Sílvia Pascual, Maria Rovira, Anna Vilà, Guillem Pina, Itziar Martín-Ugarte, Adriana Mantilla, Pilar Pizcueta, Laura Rodríguez-Pascau, Estefania Traver, Anna Vilalta, María Pascual, Marc Martinell, Uwe Meya, Fanny Mochel, Eavan Mc Govern, Elise Yazbeck, Magali Barbier, Marie-Pierre Luton, Françoise Pousset, Jean-Yves Hogrel, Isaac Adanyeguh, Florian Then Bergh, Caroline Bergner, Astrid Unterlauft, Hannes Roicke, Karl-Titus Hoffmann, Cordula Scherlach, Andrea Kalb, Bianca Meilick, Mandy Reuschel, Silvia Fenu, Elena Mauro, Elaine Murphy, Gauri Krishna, Tiggy Beyene, Alba Sierra, Sara Quiñoa, Anna Belen Canovas, Zoltan Grosz, Báthori Györgyi, S.I. van de Stadt, I.C. Huffnagel, W.J.C. van Ballegoij, M.M.C. Voermans, Reza Seyedsadjadi, Camille Corre, Neha Godbole, Natalie Rose Grant, Claudia Maria Brito Pires, Melissa Trovato, Nancy Yeh, Jordan Goodman, Jennifer Keller, Chris Joseph, Keith Van Haren, Sarada Sakamuri, Tina Duong, Lila Perrone, Stephanie Tran, Sally Dunaway Young, Syed Hashmi
Publikováno v:
The Lancet Neurology, 22(2), 127-136. Lancet Publishing Group
Background: Adult patients with adrenoleukodystrophy have a poor prognosis owing to development of adrenomyeloneuropathy. Additionally, a large proportion of patients with adrenomyeloneuropathy develop life-threatening progressive cerebral adrenoleuk
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5eb8695c85f230bdb0e4f78481480d58
https://pure.amc.nl/en/publications/safety-and-efficacy-of-leriglitazone-for-preventing-disease-progression-in-men-with-adrenomyeloneuropathy-advance(6d25a248-5b0d-4f76-b918-9f438ca0dcf9).html
https://pure.amc.nl/en/publications/safety-and-efficacy-of-leriglitazone-for-preventing-disease-progression-in-men-with-adrenomyeloneuropathy-advance(6d25a248-5b0d-4f76-b918-9f438ca0dcf9).html
Autor:
Laura A. Adang, Samuel Groeschel, Chloe Grzyb, Florian S. Eichler, Jamie L. Fraser, Lisa Emrick, Keith Van Haren, Stephanie Keller, Michele Poe, John Bernat, Joshua L. Bonkowsky, Genevieve Bernard, Chloe Stutterd, Paul J. Orchard, Ashish Gupta, Merete Ljungberg, Sabine Grønborg, Francesca Fumagalli, Saskia Elgun, Christiane Kehrer, Justine Shults, Adeline Vanderver, Maria L. Escolar
Publikováno v:
Molecular Genetics and Metabolism. 138:106989
Autor:
Jessica Rice, Janet Dean, Andrew Pekosz, Priya Duggal, Jonathan B. Strober, Matthew J. Elrick, Raquel Farias-Moeller, Sue Hong, Cristina L. Sadowsky, Leslie Benson, Thomas O. Crawford, Nalin Gupta, Amy Bayliss, Kavita Thakkar, Ryutaro Kira, Samuel R. Dominguez, Pin Fee Chong, Meghan Moore, Eoin P. Flanagan, Melania Bembea, S. K. Das, Jason Zucker, Maria A. Garcia-Dominguez, Naila Makhani, Molly Wilson-Murphy, Jiri Vajsar, Wendy Vargas, Payal Patel, Nusrat Ahsan, Mark J. Abzug, Olwen C. Murphy, Roberta L. DeBiasi, Kevin Messacar, Gabrielle deFiebre, Sarah Hopkins, Glendaliz Bosques, Gadi Revivo, Kristen Chao, Dennis W. Simon, Anusha K. Yeshokumar, Joyce Oleszek, Jay Desai, Lileth Mondok, Apurva Shah, Amary Fall, Benjamin Greenberg, Dawn Deike, Dan Zlotolow, Jessica Nance, Michelle Melicosta, Kaitlin Hagen, Divakar Mithal, Grace Y. Gombolay, Jessica L. Carpenter, Caitlin O'Brien, Catherine Otten, Rebecca Riggs, Michael O. Sweeney, Allison Navis, NgocHanh Vu, Timothy Lotze, Vykuntaraju K Gowda, Matthew Vogt, E. Ann Yeh, Allan Belzberg, Leigh Ramos-Platt, Keith Van Haren, Andrea Bauer, Kendall B. Nash, Matthew Harmelink, Emmanuelle Tiongson, Margaret Tunney, Erlinda Ulloa, Eduardo Lopez, Michele L. Yang, Kiran T. Thakur, Elizabeth Wells, Courtney Porter, Chamindra Konersman, Matthew P. Kirschen, Craig A. Press, Andrea Salazar-Camelo, Elana Katz, William Jackson, Kristen Davidge, Jelte Helfferich, Teri Schreiner, Ann Tilton, Jacqueline S. Gofshteyn, Amy Moore, Ming K. Lim, Richard H. Scheuermann, Amy B. Rosenfeld, Charles Y. Chiu, Carolina M Carballo, Eliza Gordon-Lipkin, Peggy Lazerow, Carlos A. Pardo, Ari Bitnun, Jan Mendelt Tillema, Jonathan D. Cheng, Sabrina Yum, Aaron M. Milstone, John Luce, Colyn Watkins, Riley Bove, Megan Blaufuss, Sonal Bhatia, Mitchel Seruya
Publikováno v:
Lancet
Lancet (London, England), vol 397, iss 10271
Lancet (London, England), vol 397, iss 10271
Acute flaccid myelitis (AFM) is a disabling, polio-like illness mainly affecting children. Outbreaks of AFM have occurred across multiple global regions since 2012, and the disease appears to be caused by non-polio enterovirus infection, posing a maj
Autor:
Marjo S. van der Knaap, Aad Verrips, Keith Van Haren, Irene C. Huffnagel, Aaron Carlson, Marc Engelen
Publikováno v:
Carlson, A M, Huffnagel, I C, Verrips, A, van der Knaap, M S, Engelen, M & Van Haren, K 2021, ' Five men with arresting and relapsing cerebral adrenoleukodystrophy ', Journal of Neurology, vol. 268, no. 3, pp. 936-940 . https://doi.org/10.1007/s00415-020-10225-7
J Neurol
Journal of Neurology, 268(3), 936-940. D. Steinkopff-Verlag
Journal of neurology, 268(3), 936-940. D. Steinkopff-Verlag
J Neurol
Journal of Neurology, 268(3), 936-940. D. Steinkopff-Verlag
Journal of neurology, 268(3), 936-940. D. Steinkopff-Verlag
BACKGROUND: X-linked adrenoleukodystrophy (ALD) is the most common genetic peroxisomal disorder with an estimated prevalence of 1:15,000. Approximately two-thirds of males with ALD manifest the inflammatory demyelinating cerebral phenotype (cALD) at
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
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