Bibliotecas PUC-SP - Busca Integrada

TUBB3 and KIF21A in neurodevelopment and disease

Yazar: Dharmendra Puri, Dharmendra Puri, Dharmendra Puri, Brenda J. Barry, Brenda J. Barry, Brenda J. Barry, Elizabeth C. Engle, Elizabeth C. Engle, Elizabeth C. Engle, Elizabeth C. Engle
Yayımlandı Frontiers in Neuroscience (2023-08-01)

A framework for the evaluation of patients with congenital facial weakness

Yazar: Bryn D. Webb, Irini Manoli, Elizabeth C. Engle, Ethylin W. Jabs
Yayımlandı Orphanet Journal of Rare Diseases (2021-04-01)

Etv1 Controls the Establishment of Non-overlapping Motor Innervation of Neighboring Facial Muscles during Development

Yazar: Alan P. Tenney, Jean Livet, Timothy Belton, Michaela Prochazkova, Erica M. Pearson, Mary C. Whitman, Ashok B. Kulkarni, Elizabeth C. Engle, Christopher E. Henderson
Yayımlandı Cell Reports (2019-10-01)

Stem cell-derived cranial and spinal motor neurons reveal proteostatic differences between ALS resistant and sensitive motor neurons

Yazar: Disi An, Ryosuke Fujiki, Dylan E Iannitelli, John W Smerdon, Shuvadeep Maity, Matthew F Rose, Alon Gelber, Elizabeth K Wanaselja, Ilona Yagudayeva, Joun Y Lee, Christine Vogel, Hynek Wichterle, Elizabeth C Engle, Esteban Orlando Mazzoni
Yayımlandı eLife (2019-06-01)

Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles

Yazar: Mervyn G. Thomas, Gail D. E. Maconachie, Helen J. Kuht, Wai-Man Chan, Viral Sheth, Michael Hisaund, Rebecca J. McLean, Brenda Barry, Bashir Al-Diri, Frank A. Proudlock, Zhanhan Tu, Elizabeth C. Engle, Irene Gottlob
Yayımlandı International Journal of Molecular Sciences (2021-03-01)

Neuronal-Specific TUBB3 Is Not Required for Normal Neuronal Function but Is Essential for Timely Axon Regeneration

Yazar: Alban Latremoliere, Long Cheng, Michelle DeLisle, Chen Wu, Sheena Chew, Elizabeth B. Hutchinson, Andrew Sheridan, Chloe Alexandre, Frederic Latremoliere, Shu-Hsien Sheu, Sara Golidy, Takao Omura, Eric A. Huebner, Yanjie Fan, Mary C. Whitman, Elaine Nguyen, Crystal Hermawan, Carlo Pierpaoli, Max A. Tischfield, Clifford J. Woolf, Elizabeth C. Engle
Yayımlandı Cell Reports (2018-08-01)

Large-scale GWAS of strabismus identifies risk loci and provides support for a link with maternal smoking

Yazar: Weixiong He, Peter J. van der Most, Jue-Sheng Ong, Liang-Dar Hwang, Yeda Wu, Morten S. Magnø, Jelle Vehof, Kristi Krebs, Laura Mauring, Katrin Õunap, Erik Abner, Nicholas G. Martin, Denis Plotnikov, Chen Jiang, Ronald B. Melles, Puya Gharahkhani, Harold Snieder, Teele Palumaa, Kuldar Kaljurand, Jeremy A. Guggenheim, David A. Mackey, Elizabeth C. Engle, Hélène Choquet, Lifelines Cohort Study, Stuart MacGregor
Yayımlandı Nature Communications (2025-08-01)

A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders

Yazar: Arthur S. Lee, Lauren J. Ayers, Michael Kosicki, Wai-Man Chan, Lydia N. Fozo, Brandon M. Pratt, Thomas E. Collins, Boxun Zhao, Matthew F. Rose, Alba Sanchis-Juan, Jack M. Fu, Isaac Wong, Xuefang Zhao, Alan P. Tenney, Cassia Lee, Kristen M. Laricchia, Brenda J. Barry, Victoria R. Bradford, Julie A. Jurgens, Eleina M. England, Monkol Lek, Daniel G. MacArthur, Eunjung Alice Lee, Michael E. Talkowski, Harrison Brand, Len A. Pennacchio, Elizabeth C. Engle
Yayımlandı Nature Communications (2024-09-01)

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

Yazar: Silvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami, Jessica Cannavino, Matthew F. Rose, Nicole M. Gilette, Pietro Artoni, Nara Lygia de Macena Sobreira, Wai-Man Chan, Bryn D. Webb, Caroline D. Robson, Long Cheng, Carol Van Ryzin, Andres Ramirez-Martinez, Payam Mohassel, Mark Leppert, Mary Beth Scholand, Christopher Grunseich, Carlos R. Ferreira, Tyler Hartman, Ian M. Hayes, Tim Morgan, David M. Markie, Michela Fagiolini, Amy Swift, Peter S. Chines, Carlos E. Speck-Martins, Francis S. Collins, Ethylin Wang Jabs, Carsten G. Bönnemann, Eric N. Olson, Moebius Syndrome Research Consortium, John C. Carey, Stephen P. Robertson, Irini Manoli, Elizabeth C. Engle
Yayımlandı Nature Communications (2017-07-01)

Systematic phenotype and genotype characterization of Moebius syndrome

Yazar: Bryn D. Webb, Julie A. Jurgens, Narisu Narisu, Zhongyang Zhang, Brenda J. Barry, Carol Van Ryzin, Lori L. Bonnycastle, Wai-Man Chan, Tingfen Yan, Silvio Alessandro Di Gioia, Amy J. Swift, Sarah E. MacKinnon, Darren T. Oystreck, Janet C. Rucker, Tamiesha Frempong, Mary C. Whitman, Edmond J. FitzGibbon, Janice S. Lee, Ke Hao, Caroline Andrews, Monica Erazo, Flavia M. Facio, Sherin Shaaban, Thomas P. Naidich, Peter S. Chines, Tanya J. Lehky, Camilo Toro, Andrea L. Gropman, John A. Butman, Christopher K. Zalewski, Carmen C. Brewer, Audrey Thurm, Joseph Snow, Scott M. Paul, Brian P. Brooks, Carlo Pierpaoli, Caroline D. Robson, David G. Hunter, Francis S. Collins, Ethylin Wang Jabs, Elizabeth C. Engle, Irini Manoli
Yayımlandı Genetics in Medicine Open (2025-01-01)