Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Dean Sarco"'
Autor:
Jillian M. Cameron, Snezana Maljevic, Umesh Nair, Ye Htet Aung, Benjamin Cogné, Stéphane Bézieau, Edward Blair, Bertrand Isidor, Christiane Zweier, André Reis, Mary Kay Koenig, Timothy Maarup, Dean Sarco, Alexandra Afenjar, A. H. M. Mahbubul Huq, Mary Kukolich, Thierry Billette de Villemeur, Caroline Nava, Bénédicte Héron, Steven Petrou, Samuel F. Berkovic
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 7, Pp 1263-1272 (2019)
Abstract Objective To analyze clinical phenotypes associated with KCNC1 variants other than the Progressive Myoclonus Epilepsy‐causing variant p.Arg320His, determine the electrophysiological functional impact of identified variants and explore geno
Externí odkaz:
https://doaj.org/article/54285d5342f7454b9058aec28ec2c677
Autor:
Lauren O'Grady, Samantha A. Schrier Vergano, Trevor L. Hoffman, Dean Sarco, Sara Cherny, Emily Bryant, Laura Schultz‐Rogers, Wendy K. Chung, Stephanie Sacharow, Ladonna L. Immken, Susan Holder, Rebecca R. Blackwell, Catherine Buchanan, Roman Yusupov, François Lecoquierre, Anne‐Marie Guerrot, Lance Rodan, Bert B. A. de Vries, Erik Jan Kamsteeg, Fernando Santos Simarro, Maria Palomares‐Bralo, Natasha Brown, Lynn Pais, Alejandro Ferrer, Eric W. Klee, Dusica Babovic‐Vuksanovic, Lindsay Rhodes, Richard Person, Amber Begtrup, Jennifer Keller‐Ramey, Teresa Santiago‐Sim, Rhonda E. Schnur, David A. Sweetser, Nina B. Gold
Publikováno v:
American Journal of Medical Genetics. Part A, 188, 9, pp. 2750-2759
American Journal of Medical Genetics. Part A, 188, 2750-2759
American Journal of Medical Genetics. Part A, 188, 2750-2759
Contains fulltext : 282684.pdf (Publisher’s version ) (Closed access) The pre-mRNA-processing factor 8, encoded by PRPF8, is a scaffolding component of a spliceosome complex involved in the removal of introns from mRNA precursors. Previously, heter
Publikováno v:
Journal of developmental and behavioral pediatrics : JDBP. 43(7)
Zac is a 13-year-old boy who presented with his parents to developmental-behavioral pediatrics seeking diagnostic clarity. He was born by vaginal delivery at full term after an uncomplicated pregnancy. Developmental milestones were met at typical age
Autor:
Stéphane Bézieau, Jillian M. Cameron, Samuel F. Berkovic, Edward Blair, Snezana Maljevic, Bertrand Isidor, Bénédicte Héron, Alexandra Afenjar, Benjamin Cogné, Timothy James Maarup, Mary K. Kukolich, Dean Sarco, Steven Petrou, Mary Kay Koenig, André Reis, A.H.M. Mahbubul Huq, Umesh Nair, Thierry Billette de Villemeur, Ye Htet Aung, Caroline Nava, Christiane Zweier
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 7, Pp 1263-1272 (2019)
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology
Objective To analyze clinical phenotypes associated with KCNC1 variants other than the Progressive Myoclonus Epilepsy‐causing variant p.Arg320His, determine the electrophysiological functional impact of identified variants and explore genotype‐ph
Autor:
LaDonna Immken, David A. Sweetser, François Lecoquierre, Lance H. Rodan, Lauren O’Grady, Emily Bryant, Wendy K. Chung, Nina B. Gold, Dean Sarco, Anne-Marie Guerrot, Samantha A. Schrier Vergano, Roman Yusupov, Laura Schultz-Rogers, Susan Holder, Stephanie Sacharow, Trevor Hoffman, Sara Cherny
Publikováno v:
Molecular Genetics and Metabolism. 132:S109-S110
Autor:
David Craig, Justine Coppinger, Joshua L. Goldstein, Dean Sarco, Robert G. Little, John A. Kessler, Joe J. Hoo, Brad Angle, David J. Mathison, William B. Dobyns, Alexander G. Bassuk, Ajit Chary, Ali Jalali, Sophia Khan, Antony E. Shrimpton, Andrew K. Poznanski, Cynthia V. Stack, Lisa G. Shaffer
Publikováno v:
Journal of Pediatric Neurology. :279-283
Chromosomal microdeletion syndromes are frequently associated with neurological disease including epilepsy and behavioral abnormalities. Yet, for most microdeletions, neurological phenotypes are variable and the exact molecular cause of neurological
Autor:
Alison Schonwald, Beth Rosen Sheidley, Janet S. Soul, David K. Urion, Ann M. Bergin, Omar Khwaja, Wen Han Tan, Annapurna Poduri, Eugenia Ho, Kiran Maski, Tobias Loddenkemper, Peter Raffalli, Caitlin K. Rollins, Sharon E. Smith, Jennifer Markowitz, Michael Robbins, Laura Weissman, Mira Irons, Christina Jacobsen, Yiping Shen, Jennifer Avallone, Gerard T. Berry, Alcy Torres, Peter T. Tsai, Yaman Z. Eksioglu, Fuki M. Hisama, Philip James, Masanori Takeoka, Mustafa Sahin, J. Thomas Megerian, Rebecca Pinsky, Bai-Lin Wu, Heather E. Olson, Sanjeev V. Kothare, David J. Harris, David T. Miller, Edward G. Neilan, Frank H. Duffy, Robert Wolff, Joan M. Stoler, Eugene Roe, Jonathan O. Lipton, Dean Sarco, Amy E. Roberts
Publikováno v:
Annals of Neurology. 75:943-958
Objective To evaluate the role of copy number abnormalities detectable by chromosomal microarray (CMA) testing in patients with epilepsy at a tertiary care center.
Autor:
Marcin Zarowski, Cia Sharpe, Sanjeev V. Kothare, Tobias Loddenkemper, Dean Sarco, Gregory N. Barnes, Martina Vendrame, Daniel G. Glaze, Matt Gregas, Hans Shuhaiber, Kevin F. Haas, Augusto Morales, Mark Nespeca
Publikováno v:
Epilepsy & Behavior. 23:261-265
We prospectively analyzed EEGs from participants in the ongoing NIH Rare Diseases Clinical Research Network Angelman Syndrome Natural History Study. Of the one-hundred-sixty enrolled patients (2006-2010), 115 had complete data (58 boys, median age 3.
Autor:
Lynne M. Bird, Lucia T. Horowitz, Daniel G. Glaze, Sarika U. Peters, Carlos A. Bacino, Steven A. Skinner, Susan E. Waisbren, Irina Anselm, Arthur L. Beaudet, Dean Sarco, Wen-Hann Tan, Rene Barbieri-Welge, K. Naga Mohan, Mark Nespeca, Trilochan Sahoo, Jennifer K. Gentile, Astrid Bauer-Carlin
Publikováno v:
American Journal of Medical Genetics Part A. 155:2956-2963
Angelman syndrome (AS) is due to deficient ubiquitin protein ligase 3a, the gene for which (UBE3A) maps to chromosome 15q11–q13 and is imprinted such that only the maternally inherited gene is expressed. The paternally inherited UBE3A gene is silen
Autor:
Frances E. Jensen, Deborah P. Waber, Katrina Boyer, Shannon M. Lundy-Krigbaum, Matt Gregas, Dean Sarco, Masanori Takeoka
Publikováno v:
Epilepsy & Behavior. 22:298-303
Children with benign rolandic epilepsy (BRE) experience elevated rates of cognitive, behavioral, and affective problems. Frequent epileptiform spike discharges may impair behavioral functioning. To elucidate this relationship, we evaluated associatio