Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Nicole E. Hatem"'
Autor:
Alissa M. D’Gama, Mollie B. Woodworth, Amer A. Hossain, Sara Bizzotto, Nicole E. Hatem, Christopher M. LaCoursiere, Imad Najm, Zhong Ying, Edward Yang, A. James Barkovich, David J. Kwiatkowski, Harry V. Vinters, Joseph R. Madsen, Gary W. Mathern, Ingmar Blümcke, Annapurna Poduri, Christopher A. Walsh
Publikováno v:
Cell Reports, Vol 21, Iss 13, Pp 3754-3766 (2017)
Focal cortical dysplasia (FCD) and hemimegalencephaly (HME) are epileptogenic neurodevelopmental malformations caused by mutations in mTOR pathway genes. Deep sequencing of these genes in FCD/HME brain tissue identified an etiology in 27 of 66 cases
Externí odkaz:
https://doaj.org/article/6b8cdd42f6cb4f5e9535741ef54a0e4e
Autor:
Richard S. Smith, Kiely N. James, Ganeshwaran H. Mochida, Matthew P. Harris, R. Sean Hill, Xiaochang Zhang, Christopher A. Walsh, Lihadh Al-Gazali, Lydie Burglen, Nicole E. Hatem, Tipu Sultan, Michael E. Coulter, Ellen M DeGennaro, Anna Rajab, Muna Al-Saffar, A. Stacy Kamumbu, Katrin Henke, Jacqueline Aziza, A. James Barkovich, Jennifer N. Partlow, Damir Musaev, Nicolas Chassaing, Joseph G. Gleeson, Maha S. Zaki
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics, vol 22, iss 6
Genetics in Medicine
Genetics in Medicine
Purpose The exocyst complex is a conserved protein complex that mediates fusion of intracellular vesicles to the plasma membrane and is implicated in processes including cell polarity, cell migration, ciliogenesis, cytokinesis, autophagy, and fusion
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3edcbc7904848c94002ea52e230736c2
https://escholarship.org/uc/item/5tn3w50f
https://escholarship.org/uc/item/5tn3w50f
Autor:
Imad Najm, A. James Barkovich, Nicole E. Hatem, Annapurna Poduri, Mollie B. Woodworth, Zhong Ying, Christopher M. LaCoursiere, Amer A. Hossain, Alissa M. D'Gama, Ingmar Blümcke, Gary W. Mathern, David J. Kwiatkowski, Christopher A. Walsh, Sara Bizzotto, Joseph R. Madsen, Harry V. Vinters, Edward Yang
Publikováno v:
Epilepsy Currents
Cell Reports, Vol 21, Iss 13, Pp 3754-3766 (2017)
Cell reports, vol 21, iss 13
Cell Reports, Vol 21, Iss 13, Pp 3754-3766 (2017)
Cell reports, vol 21, iss 13
Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias D'Gama AM, Woodworth MB, Hossain AA, Bizzotto S, Hatem NE, LaCoursiere CM, Najm I, Ying Z, Yang E, Barkovich AJ, Kwiatkowski DJ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46a40c6d1331472742d2cb14c4ea2413
https://europepmc.org/articles/PMC5752134/
https://europepmc.org/articles/PMC5752134/
Autor:
Pengwei Yang, Rachel E. Rodin, Chandri N. Yandava, Michael E. Coulter, Alison R. Barton, Michael A. Lodato, Mollie B. Woodworth, Christopher A. Walsh, Steven C. Ryu, Carl Vitzthum, Craig L. Bohrson, Maxwell A. Sherman, Min-Seok Kwon, Thomas Chittenden, Lovelace J. Luquette, Nicole E. Hatem, Peter J. Park
Brain mutations, young and old Most neurons that make up the human brain are postmitotic, living and functioning for a very long time without renewal (see the Perspective by Lee). Bae et al. examined the genomes of single neurons from the prenatal de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c88f1351bab5908694454cc88f48013d
Autor:
Nicole E. Hatem, Ying Geng, Evan A. Boyle, Annapurna Poduri, Christopher A. Walsh, Harry V. Vinters, Amer A. Hossain, Javier A. Couto, Gary W. Mathern, David J. Kwiatkowski, Brenda J. Barry, Alissa M. D'Gama, Beth Martin, A. James Barkovich, Christopher M. LaCoursiere, Jay Shendure
Publikováno v:
Annals of Neurology. 77:720-725
Focal malformations of cortical development, including focal cortical dysplasia (FCD) and hemimegalencephaly (HME), are important causes of intractable childhood epilepsy. Using targeted and exome sequencing on DNA from resected brain samples and non
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
BMC Biology
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
BMC Biology
In many insect species, fitness trade-offs exist between maximizing body size and developmental speed. Understanding how various species evolve different life history strategies requires knowledge of the physiological mechanisms underlying the regula
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c279e60201caf3e4fcd2b1f82acb6b2