Zobrazeno 1 - 10
of 236
pro vyhledávání: '"Douglas A. Kerr"'
Autor:
Michael Gorelik, Miroslaw Janowski, Chulani Galpoththawela, Robert Rifkin, Michael Levy, Barbara Lukomska, Douglas A. Kerr, Jeff W. M. Bulte, Piotr Walczak, Russell H. Morgan
Publikováno v:
Cell Transplantation, Vol 21 (2012)
The development of cell-based therapies opens up new avenues for treating a myriad of diseases of the central nervous system (CNS). While significant effort is being directed toward development of patient-specific, autologous transplantable cells, at
Externí odkaz:
https://doaj.org/article/d70411c0ec2f4cb9bec06b451581015d
Publikováno v:
Health Psychology Open, Vol 7 (2020)
This quasi-experimental study explores the effects of a narrative coaching board game intervention aimed at enhancing participants’ sense of self-mastery as part of facilitating narrative identity reconstruction. Three mixed analyses of variance co
Externí odkaz:
https://doaj.org/article/3d762ef893b6495584cd016341618ce0
Autor:
Douglas A. Kerr, Nancy L. Kuntz, John W. Day, Jacinda B. Sampson, Anne M. Connolly, R. Rodney Howell, Jacqueline J. Glascock, Katherine W. Klinger, Jill Jarecki, Thomas O. Crawford, Basil T. Darras, Richard S. Finkel, Perry B. Shieh, Thomas W. Prior
Publikováno v:
Journal of Neuromuscular Diseases
Autor:
Nancy L. Kuntz, Julie A. Parsons, Russell J. Butterfield, Francy Shu, Sandra P. Reyna, Janbernd Kirschner, Sarah Gheuens, Marco Petrillo, Darryl C. De Vivo, Kathryn J. Swoboda, Christopher Stebbins, Wildon Farwell, Wuh-Liang Hwu, Haluk Topaloglu, Enrico Bertini, Kristina Johnson, Richard Foster, Douglas A. Kerr, Valeria A. Sansone, Monique M. Ryan, Tawfeg Ben-Omran, Stephanie Fradette, Ishir Bhan, Thomas O. Crawford, Richard S. Finkel, Alfred Sandrock, John F. Staropoli, Yuh-Jyh Jong, Gabriel Braley
Publikováno v:
Neuromuscular Disorders
Highlights • NURTURE is an ongoing study of nusinersen started in a presymptomatic stage of SMA. • All infants were ≥25 months old, and alive without permanent ventilation. • All infants achieved independent sitting and 88% (22/25) were walki
Autor:
Shulin Zhang, George Grahame, Stacey Tarrant, Charles L. Hoppel, Ann M. Bergin, Douglas S. Kerr, Jirair K. Bedoyan, Suzanne D. DeBrosse, Ha Kyung Shin, Leah Hecht, Didem Demirbas, Edward Yang, Gerard T. Berry
Publikováno v:
JIMD Reports
JIMD Reports, Vol 48, Iss 1, Pp 26-35 (2019)
JIMD Reports, Vol 48, Iss 1, Pp 26-35 (2019)
Congenital lactic acidosis due to pyruvate dehydrogenase phosphatase (PDP) deficiency is very rare. PDP regulates pyruvate dehydrogenase complex (PDC) and defective PDP leads to PDC deficiency. We report a case with functional PDC deficiency with low
Autor:
Sumit Parikh, Kandamurugu Manickam, Dennis Bartholomew, Nicole Ducich, Edwin Ferren, Kirkland Wilson, Rosemary Hage, Douglas S. Kerr, Suzanne D. DeBrosse, Ha Kyung Shin, April Lehman, Jirair K. Bedoyan, Mari Mori, Bruce M. Cohen, Sharon Linard, Lori-Anne Schillaci
Publikováno v:
JIMD Reports
JIMD Reports, Vol 56, Iss 1, Pp 70-81 (2020)
JIMD Reports, Vol 56, Iss 1, Pp 70-81 (2020)
Pyruvate dehydrogenase complex deficiencies (PDCDs) and other mitochondrial disorders (MtDs) can (a) result in congenital lactic acidosis with elevations of blood alanine (Ala) and proline (Pro), (b) lead to decreased ATP production, and (c) result i
Autor:
John W. Day, Douglas A. Kerr, Amanda M. Haidet-Phillips, Nancy L. Kuntz, Richard S. Finkel, Perry B. Shieh, Thomas W. Prior, Jacinda B. Sampson, Jill Jarecki, Katherine W. Klinger, Anne M. Connolly, R. Rodney Howell, Jacqueline J. Glascock, Thomas O. Crawford, Basil T. Darras
Publikováno v:
Journal of Neuromuscular Diseases. 5:145-158
Background Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by the degeneration of alpha motor neurons in the spinal cord, leading to muscular atrophy. SMA is caused by deletions or mutations in the survival motor neuron
Autor:
Dennis Bartholomew, Kirkland Wilson, Sharon Linard, Nicole Ducich, Sumit Parikh, April Lehman, Ha Kyung Shin, Bruce M. Cohen, Suzanne D. DeBrosse, Edwin C Ferren, Jirair K. Bedoyan, Douglas S. Kerr, Kandamurugu Manickam, Rosemary Hage, Lori-Anne Schillaci, Mari Mori
Publikováno v:
Molecular Genetics and Metabolism. 132:S6-S7
Autor:
Jirair K. Bedoyan, Suzanne D. DeBrosse, Samuel P. Yang, Alexander Miron, Sacha Ferdinandusse, George Grahame, Charles L. Hoppel, Douglas S. Kerr, Rhona Jack, Ronald J.A. Wanders
Mutations in ECHS1 result in short-chain enoyl-CoA hydratase (SCEH) deficiency which mainly affects the catabolism of various amino acids, particularly valine. We describe a case compound heterozygous for ECHS1 mutations c.836T>C (novel) and c.8C>A i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1874f9bef24cdebcfd56d1d58f6b7387
https://europepmc.org/articles/PMC5382105/
https://europepmc.org/articles/PMC5382105/
Autor:
Stephen F. Traynelis, Karin Fuentes Fajardo, Lynne A. Wolfe, Conisha Holloman, Barbara K. Burton, Richard W. Hanson, James P. Snyder, Cornelius F. Boerkoel, Todd Holyoak, Ann C.M. Smith, David R. Adams, Hongjie Yuan, Cynthia J. Tifft, Thierry Vilboux, Gretchen Golas, Yan Huang, Douglas S. Kerr, Murat Sincan, Katrina H. Arajs, Parvin Hakimi, George Grahame, Hugo Vega, William A. Gahl, Thomas C. Markello, Gordon Wells
Publikováno v:
Molecular Genetics and Metabolism. 113:161-170
The National Institutes of Health Undiagnosed Diseases Program evaluates patients for whom no diagnosis has been discovered despite a comprehensive diagnostic workup. Failure to diagnose a condition may arise from the mutation of genes previously una