Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Constance Smith‐Hicks"'
Autor:
David Hough, Alice R. Mao, Michael Aman, Reymundo Lozano, Constance Smith-Hicks, Veronica Martinez-Cerdeno, Michael Derby, Zachary Rome, Niel Malan, Robert L. Findling
Publikováno v:
Annals of General Psychiatry, Vol 22, Iss 1, Pp 1-12 (2023)
Abstract Background There is a critical need for effective treatment of the core symptoms of autism spectrum disorder (ASD). The purinergic antagonist suramin may improve core symptoms through restoration of normal mitochondrial function and reductio
Externí odkaz:
https://doaj.org/article/1743603b9ad44d018904136d758c5761
Autor:
Constance Smith-Hicks, Damien Wright, Aisling Kenny, Robert C. Stowe, Maria McCormack, Andrew C. Stanfield, J. Lloyd Holder
Publikováno v:
Brain Sciences, Vol 11, Iss 9, p 1229 (2021)
Neurodevelopmental disorders are frequently associated with sleep disturbances. One class of neurodevelopmental disorders, the genetic synaptopathies, is caused by mutations in genes encoding proteins found at the synapse. Mutations in these genes ca
Externí odkaz:
https://doaj.org/article/66d0fbd7382447968ff96dd976ead527
Publikováno v:
International Journal of Molecular Sciences, Vol 20, Iss 20, p 5098 (2019)
Rett syndrome (RTT) and CDKL5 deficiency disorder (CDD) are two rare X-linked developmental brain disorders with overlapping but distinct phenotypic features. This review examines the impact of loss of methyl-CpG-binding protein 2 (MeCP2) and cyclin-
Externí odkaz:
https://doaj.org/article/e805ee8cd8c345aaa3e95d672b2fe1bb
Autor:
Thomas W. Frazier, Robyn M. Busch, Patricia Klaas, Katherine Lachlan, Shafali Jeste, Alexander Kolevzon, Eva Loth, Jacqueline Harris, Leslie Speer, Tom Pepper, Kristin Anthony, J. Michael Graglia, Christal Delagrammatikas, Sandra Bedrosian‐Sermone, Jenine Beekhuyzen, Constance Smith‐Hicks, Mustafa Sahin, Charis Eng, Antonia Y. Hardan, Mirko Uljarević
Publikováno v:
American Journal of Medical Genetics Part A.
Autor:
Pratibha Singhi, Constance Smith-Hicks
Publikováno v:
Indian Journal of Pediatrics. 90:362-363
Publikováno v:
Journal of Child Neurology. :088307382311720
Background Rett syndrome is a rare neurodevelopmental disorder primarily affecting females. This syndrome is associated with many comorbidities and impairments related to motor function, breathing, sleep, expressive language, and repetitive hand move
Autor:
Dejan B. Budimirovic, Dragana Protic, Dora Stojanovic, Catherine Eliades, Kristen Judy, Constance Smith-Hicks, Erika Augustine, Walter E. Kaufmann
Publikováno v:
Journal of the American Academy of Child & Adolescent Psychiatry. 61:S161-S162
Autor:
Guy Helman, Parand Zarekiani, Samantha A.M. Tromp, Ashley Andrews, Lorenzo D. Botto, Joshua L. Bonkowsky, Anna Chassevent, Elisa Giorgio, Tommaso Pippucci, Shen Wei, Constance Smith‐Hicks, Giovanna Vaula, Michèl A.A.P Willemsen, Mareike Schimmel, Kurt Vollert, Fumitaka Shimizu, Takashi Kanda, Matthew Lynch, Tony Roscioli, Ryan J. Taft, Cas Simons, Marianna Bugiani, Taco W. Kuijpers, Marjo S. van der Knaap
Publikováno v:
Annals of Neurology, 92, 5, pp. 895-901
Annals of Neurology, 92(5), 895-901. John Wiley and Sons Inc.
Annals of Neurology, 92, 895-901
Helman, G, Zarekiani, P, Tromp, S A M, Andrews, A, Botto, L D, Bonkowsky, J L, Chassevent, A, Giorgio, E, Pippucci, T, Wei, S, Smith-Hicks, C, Vaula, G, Willemsen, M A A P, Schimmel, M, Vollert, K, Shimizu, F, Kanda, T, Lynch, M, Roscioli, T, Taft, R J, Simons, C, Bugiani, M, Kuijpers, T W & van der Knaap, M S 2022, ' Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy ', Annals of Neurology, vol. 92, no. 5, pp. 895-901 . https://doi.org/10.1002/ana.26477
Annals of neurology, 92(5), 895-901. John Wiley and Sons Inc.
Annals of Neurology, 92(5), 895-901. John Wiley and Sons Inc.
Annals of Neurology, 92, 895-901
Helman, G, Zarekiani, P, Tromp, S A M, Andrews, A, Botto, L D, Bonkowsky, J L, Chassevent, A, Giorgio, E, Pippucci, T, Wei, S, Smith-Hicks, C, Vaula, G, Willemsen, M A A P, Schimmel, M, Vollert, K, Shimizu, F, Kanda, T, Lynch, M, Roscioli, T, Taft, R J, Simons, C, Bugiani, M, Kuijpers, T W & van der Knaap, M S 2022, ' Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy ', Annals of Neurology, vol. 92, no. 5, pp. 895-901 . https://doi.org/10.1002/ana.26477
Annals of neurology, 92(5), 895-901. John Wiley and Sons Inc.
Item does not contain fulltext NOTCH1 belongs to the NOTCH family of proteins that regulate cell fate and inflammatory responses. Somatic and germline NOTCH1 variants have been implicated in cancer, Adams-Oliver syndrome, and cardiovascular defects.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b91eeaa027fc44539ee7a9a7b49de19d
https://repository.ubn.ru.nl/handle/2066/287942
https://repository.ubn.ru.nl/handle/2066/287942
Autor:
Jonathan A. Bernstein, Leah J. Rowe, Kimberly Foss, Samin A. Sajan, Kun Xia, Juliane Hoyer, Anita E. Beck, Shayna Svihovec, Vincent Gatinois, Lance H. Rodan, Roksana Sasanfar, Christiane Zweier, Alban Ziegler, Sonal Mahida, Kristin G. Monaghan, Charlotte W. Ockeloen, André Reis, Milen Velinov, Janson White, Evan E. Eichler, Nasim Vasli, Jennifer Friedman, Constance Smith-Hicks, Gilles Morin, Rachel Westman, Sandra Yang, Joshua Scheck, Christian Thiel, John B. Vincent, Deborah A. Nickerson, Michelle E. Ernst, Jacqueline Harris, Natasha Zeid, Bernt Popp, Francesca Mattioli, Zehra Agha, Ellen van Binsbergen, Julian A. Martinez-Agosto, Karen W. Gripp, Gwenaël Le Guyader, Catherine Vincent-Delorme, Lori-Anne Schillaci, Jennefer N. Kohler, Kimberly A. Aldinger, Laurence J. Walsh, Jessica X. Chong, David Geneviève, Rami Abou Jamra, Amy Yang, Cigdem I. Akman, Sha Tang, Ricardo Harripaul, Rick Person, Marleen Simon, Hui Guo, Muhammad Ayub, Laura S. Farach, Patricia Blanchet, Austin Larson, Marie Vincent, Luis Rohena, Michael J. Bamshad, Raheel Qamar, Gregory M. Enns, Joshua Rotenberg, Katelyn Payne, William J. Sunderland, Anne C.-H. Tsai, Annika M. Dries, Michèle Mathieu-Dramard, Dominique Bonneau, Ghayda M. Mirzaa, Bénédicte Gérard, Elise Schaefer, Amélie Piton, Patricia G Wheeler
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in Medicine
Genetics in Medicine, 2020, 22 (3), pp.538-546. ⟨10.1038/s41436-019-0693-9⟩
Genetics in Medicine, Nature Publishing Group, 2020, 22 (3), pp.538-546. ⟨10.1038/s41436-019-0693-9⟩
Genetics in Medicine, 22, 538-546
Genetics in Medicine, 22, 3, pp. 538-546
Genetics in Medicine
Genetics in Medicine, 2020, 22 (3), pp.538-546. ⟨10.1038/s41436-019-0693-9⟩
Genetics in Medicine, Nature Publishing Group, 2020, 22 (3), pp.538-546. ⟨10.1038/s41436-019-0693-9⟩
Genetics in Medicine, 22, 538-546
Genetics in Medicine, 22, 3, pp. 538-546
Contains fulltext : 218267.pdf (Publisher’s version ) (Closed access) PURPOSE: Intellectual disability (ID) and autism spectrum disorder (ASD) are genetically heterogeneous neurodevelopmental disorders. We sought to delineate the clinical, molecula
Autor:
Andrew C. Stanfield, Aisling Kenny, Maria McCormack, Damien Wright, Constance Smith-Hicks, Robert C. Stowe, J. Lloyd Holder
Publikováno v:
Brain Sciences; Volume 11; Issue 9; Pages: 1229
Brain Sciences, Vol 11, Iss 1229, p 1229 (2021)
Smith-Hicks, C, Wright, D, Kenny, A, Stowe, R C, McCormack, M, Stanfield, A C & Holder, J L 2021, ' Sleep abnormalities in the synaptopathies—SYNGAP1-related intellectual disability and Phelan–McDermid syndrome ', Brain Sciences, vol. 11, no. 9, 1229 . https://doi.org/10.3390/brainsci11091229
Brain Sciences, Vol 11, Iss 1229, p 1229 (2021)
Smith-Hicks, C, Wright, D, Kenny, A, Stowe, R C, McCormack, M, Stanfield, A C & Holder, J L 2021, ' Sleep abnormalities in the synaptopathies—SYNGAP1-related intellectual disability and Phelan–McDermid syndrome ', Brain Sciences, vol. 11, no. 9, 1229 . https://doi.org/10.3390/brainsci11091229
Neurodevelopmental disorders are frequently associated with sleep disturbances. One class of neurodevelopmental disorders, the genetic synaptopathies, is caused by mutations in genes encoding proteins found at the synapse. Mutations in these genes ca