Zobrazeno 1 - 10
of 97
pro vyhledávání: '"Maria T. Acosta"'
Autor:
Marie Morimoto, Vikas Bhambhani, Nour Gazzaz, Mariska Davids, Paalini Sathiyaseelan, Ellen F. Macnamara, Jennifer Lange, Anna Lehman, Patricia M. Zerfas, Jennifer L. Murphy, Maria T. Acosta, Camille Wang, Emily Alderman, Undiagnosed Diseases Network, Sara Reichert, Audrey Thurm, David R. Adams, Wendy J. Introne, Sharon M. Gorski, Cornelius F. Boerkoel, William A. Gahl, Cynthia J. Tifft, May Christine V. Malicdan
Publikováno v:
npj Genomic Medicine, Vol 8, Iss 1, Pp 1-16 (2023)
Abstract Autophagy regulates the degradation of damaged organelles and protein aggregates, and is critical for neuronal development, homeostasis, and maintenance, yet few neurodevelopmental disorders have been associated with pathogenic variants in g
Externí odkaz:
https://doaj.org/article/26c827d9dfcc46b4ace723c7df39bf58
Autor:
Maria T. Acosta, Zeynep Vardar, Precilla D'Souza, Jean Johnston, Anna Kuhn, Audrey Thurm, Cristan Farmer, Mohammed Shazeeb, Cynthia Tifft
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100123- (2023)
Externí odkaz:
https://doaj.org/article/27535efeca574f25b45f4fb405fb0700
Autor:
Jonathan M. Payne, Stephen J. C. Hearps, Karin S. Walsh, Iris Paltin, Belinda Barton, Nicole J. Ullrich, Kristina M. Haebich, David Coghill, Gerard A. Gioia, Alan Cantor, Gary Cutter, James H. Tonsgard, David Viskochil, Celiane Rey‐Casserly, Elizabeth K. Schorry, Joseph D. Ackerson, Laura Klesse, Michael J. Fisher, David H. Gutmann, Tena Rosser, Roger J. Packer, Bruce Korf, Maria T. Acosta, Kathryn N. North, the NF Clinical Trials Consortium
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 12, Pp 2555-2565 (2019)
Abstract Objective Rapid developments in understanding the molecular mechanisms underlying cognitive deficits in neurodevelopmental disorders have increased expectations for targeted, mechanism‐based treatments. However, translation from preclinica
Externí odkaz:
https://doaj.org/article/213a2426d5c645e994f7b2496477dbb2
Autor:
Ben Shofty, Eyal Bergmann, Gil Zur, Jad Asleh, Noam Bosak, Alexandra Kavushansky, F. Xavier Castellanos, Liat Ben-Sira, Roger J. Packer, Gilbert L. Vezina, Shlomi Constantini, Maria T. Acosta, Itamar Kahn
Publikováno v:
Neurobiology of Disease, Vol 130, Iss , Pp 104479- (2019)
Children with the autosomal dominant single gene disorder, neurofibromatosis type 1 (NF1), display multiple structural and functional changes in the central nervous system, resulting in neuropsychological cognitive abnormalities. Here we assessed the
Externí odkaz:
https://doaj.org/article/19bf52b8ac32444e8e7d2519207e66a8
Autor:
Mauricio Arcos-Burgos, Maria T. Acosta, Ariel F. Martinez, Maximilian Muenke, Pablo J. Enriori, Claudio A. Mastronardi
Publikováno v:
Neural Plasticity, Vol 2016 (2016)
Externí odkaz:
https://doaj.org/article/e0231042b30d429d823b9894709af8a0
Publikováno v:
International Journal of Mathematics and Mathematical Sciences, Vol 16, Iss 3, Pp 539-544 (1993)
Let GF(q) denote the finite field of order q=pe with p odd and prime. Let M denote the ring of m×m matrices with entries in GF(q). In this paper, we consider the problem of determining the number N=N(n,m,B) of the n-th roots in M of a given matrix B
Externí odkaz:
https://doaj.org/article/c80190b3625148d4b29f966fec69865d
Publikováno v:
International Journal of Mathematics and Mathematical Sciences, Vol 15, Iss 4, Pp 767-771 (1992)
Let GF(q) denote the finite field of order q=pe with p odd. Let M denote the ring of 2×2 matrices with entries in GF(q). Let n denote a divisor of q−1 and assume 2≤n and 4 does not divide n. In this paper, we consider the problem of determining
Externí odkaz:
https://doaj.org/article/d3e21b8d1f5f4b9a94ab6948354f9f28
Publikováno v:
International Journal of Mathematics and Mathematical Sciences, Vol 14, Iss 3, Pp 471-474 (1991)
Let GR(pn,m) denote the Galois ring of order pn,m, where p is a prime. In this paper we define and characterize minimal value set polynomials over GR(pn,m).
Externí odkaz:
https://doaj.org/article/fe0480e7bfea4fc7b9ec23f86396d965
Autor:
F. Graeme Frost, Marie Morimoto, Prashant Sharma, Lyse Ruaud, Newell Belnap, Daniel G. Calame, Yuri Uchiyama, Naomichi Matsumoto, Machteld M. Oud, Elise A. Ferreira, Vinodh Narayanan, Sampath Rangasamy, Matt Huentelman, Lisa T. Emrick, Ikuko Sato-Shirai, Satoko Kumada, Nicole I. Wolf, Peter J. Steinbach, Yan Huang, Barbara N. Pusey, Sandrine Passemard, Jonathan Levy, Séverine Drunat, Marie Vincent, Agnès Guet, Emanuele Agolini, Antonio Novelli, Maria Cristina Digilio, Jill A. Rosenfeld, Jennifer L. Murphy, James R. Lupski, Gilbert Vezina, Ellen F. Macnamara, David R. Adams, Maria T. Acosta, Cynthia J. Tifft, William A. Gahl, May Christine V. Malicdan
Publikováno v:
Undiagnosed Diseases Network 2023, ' Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis ', American journal of human genetics, vol. 110, no. 4, pp. 663-680 . https://doi.org/10.1016/j.ajhg.2023.03.001
American Journal of Human Genetics, 110, 4, pp. 663-680
American Journal of Human Genetics, 110, 663-680
American Journal of Human Genetics, 110, 4, pp. 663-680
American Journal of Human Genetics, 110, 663-680
Item does not contain fulltext The vast majority of human genes encode multiple isoforms through alternative splicing, and the temporal and spatial regulation of those isoforms is critical for organismal development and function. The spliceosome, whi
Autor:
Michael A. Tainsky, Ludwine M. Messiaen, Bruce R. Korf, Maria T. Acosta, Jaishri O. Blakeley, Sean J. Yoder, Zhihua Chen, Jacob P. Crowley, Renee N. Tousignant, Dhananjay A. Chitale, Patrick R. Gonzales, Roope A. Kallionpää, Xia Wang
TCGA invasive breast cancer mRNA expression, protein expression, and CNV comparison based on NF1 genetic alterations.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29ce3190172e758502e024957eed668f
https://doi.org/10.1158/1940-6207.22533689.v1
https://doi.org/10.1158/1940-6207.22533689.v1