TUBB3 and KIF21A in neurodevelopment and disease

por Puri, Dharmendra, Barry, Brenda J., Engle, Elizabeth C.
Publicado 2023

Analysis of human sarcospan as a candidate gene for CFEOM1

por O'Brien, Kristine F, Engle, Elizabeth C, Kunkel, Louis M
Publicado 2001

A framework for the evaluation of patients with congenital facial weakness

por Webb, Bryn D., Manoli, Irini, Engle, Elizabeth C., Jabs, Ethylin W.
Publicado 2021

Crystalline cataract caused by a heterozygous missense mutation in γD-crystallin (CRYGD)

por VanderVeen, Deborah K., Andrews, Caroline, Nihalani, Bharti R., Engle, Elizabeth C.
Publicado 2011

TWIST1, a gene associated with Saethre-Chotzen syndrome, regulates extraocular muscle organization in mouse

por Whitman, Mary C., Gilette, Nicole M., Bell, Jessica L., Kim, Seoyoung, Tischfield, Max, Engle, Elizabeth C.
Publicado 2022

Loss of CXCR4/CXCL12 Signaling Causes Oculomotor Nerve Misrouting and Development of Motor Trigeminal to Oculomotor Synkinesis

por Whitman, Mary C., Nguyen, Elaine H., Bell, Jessica L., Tenney, Alan P., Gelber, Alon, Engle, Elizabeth C.
Publicado 2018

Ocular Motor Nerve Development in the Presence and Absence of Extraocular Muscle

por Michalak, Suzanne M., Whitman, Mary C., Park, Jong G., Tischfield, Max A., Nguyen, Elaine H., Engle, Elizabeth C.
Publicado 2017

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

por Tenney, Alan P., Livet, Jean, Belton, Timothy, Prochazkova, Michaela, Pearson, Erica M., Whitman, Mary C., Kulkarni, Ashok B., Engle, Elizabeth C., Henderson, Christopher E.
Publicado 2019

Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome

por Baris, Hagit N, Chan, Wai-Man, Andrews, Caroline, Behar, Doron M, Donovan, Diana J, Morton, Cynthia C, Ranells, Judith, Pal, Tuya, Ligon, Azra H, Engle, Elizabeth C
Publicado 2013

Congenital monocular elevation deficiency associated with a novel TUBB3 gene variant

por Thomas, Mervyn G, Maconachie, Gail D E, Constantinescu, Cris S, Chan, Wai-Man, Barry, Brenda, Hisaund, Michael, Sheth, Viral, Kuht, Helen J, Dineen, Rob A, Harieaswar, Sreemathi, Engle, Elizabeth C, Gottlob, Irene
Publicado 2020

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

por An, Disi, Fujiki, Ryosuke, Iannitelli, Dylan E, Smerdon, John W, Maity, Shuvadeep, Rose, Matthew F, Gelber, Alon, Wanaselja, Elizabeth K, Yagudayeva, Ilona, Lee, Joun Y, Vogel, Christine, Wichterle, Hynek, Engle, Elizabeth C, Mazzoni, Esteban Orlando
Publicado 2019

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

por Thomas, Mervyn G., Maconachie, Gail D. E., Kuht, Helen J., Chan, Wai-Man, Sheth, Viral, Hisaund, Michael, McLean, Rebecca J., Barry, Brenda, Al-Diri, Bashir, Proudlock, Frank A., Tu, Zhanhan, Engle, Elizabeth C., Gottlob, Irene
Publicado 2021

KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM)

por Yang, Xian, Yamada, Koki, Katz, Bradley, Guan, Hongzai, Wang, Lifei, Andrews, Caroline, Zhao, Guiqiu, Engle, Elizabeth C., Chen, Haoyu, Tong, Zongzhong, Kong, Jie, Hu, Cong, Kong, Qinglan, Fan, Guiyun, Wang, Ze, Ning, Meizhen, Zhang, Shaoyan, Xu, Jinling, Zhang, Kang
Publicado 2010

CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX

por Engle, Elizabeth C, McIntosh, Nathalie, Yamada, Koki, Lee, Bjorn A, Johnson, Roger, O'Keefe, Michael, Letson, Robert, London, Arnold, Ballard, Evan, Ruttum, Mark, Matsumoto, Naomichi, Saito, Nakamichi, Collins, Mary Louise Z, Morris, Lisa, Monte, Monte Del, Magli, Adriano, de Berardinis, Teresa
Publicado 2002

Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1

por Chan, Wai-Man, Andrews, Caroline, Dragan, Laryssa, Fredrick, Douglas, Armstrong, Linlea, Lyons, Christopher, Geraghty, Michael T, Hunter, David G, Yazdani, Ahmad, Traboulsi, Elias I, Pott, Jan WR, Gutowski, Nicholas J, Ellard, Sian, Young, Elizabeth, Hanisch, Frank, Koc, Feray, Schnall, Bruce, Engle, Elizabeth C
Publicado 2007

The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene

por Peter, Virginie G., Quinodoz, Mathieu, Pinto-Basto, Jorge, Sousa, Sergio B., Di Gioia, Silvio Alessandro, Soares, Gabriela, Ferraz Leal, Gabriela, Silva, Eduardo D., Pescini Gobert, Rosanna, Miyake, Noriko, Matsumoto, Naomichi, Engle, Elizabeth C., Unger, Sheila, Shapiro, Frederic, Superti-Furga, Andrea, Rivolta, Carlo, Campos-Xavier, Belinda
Publicado 2019

Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect

por Shaaban, Sherin, MacKinnon, Sarah, Andrews, Caroline, Staffieri, Sandra E., Maconachie, Gail D. E., Chan, Wai-Man, Whitman, Mary C., Morton, Sarah U., Yazar, Seyhan, MacGregor, Stuart, Elder, James E., Traboulsi, Elias I., Gottlob, Irene, Hewitt, Alex W., Hunter, David G., Mackey, David A., Engle, Elizabeth C.
Publicado 2018

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

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

Recurrent Rare Copy Number Variants Increase Risk for Esotropia

por Whitman, Mary C., Di Gioia, Silvio Alessandro, Chan, Wai-Man, Gelber, Alon, Pratt, Brandon M., Bell, Jessica L., Collins, Thomas E., Knowles, James A., Armoskus, Christopher, Pato, Michele, Pato, Carlos, Shaaban, Sherin, Staffieri, Sandra, MacKinnon, Sarah, Maconachie, Gail D E., Elder, James E., Traboulsi, Elias I., Gottlob, Irene, Mackey, David A., Hunter, David G., Engle, Elizabeth C.
Publicado 2020

Biallelic Mutations In Human DCC Cause Developmental Split Brain Syndrome

por Jamuar, Saumya S., Schmitz-Abe, Klaus, D’Gama, Alissa M., Drottar, Marie, Chan, Wai-Man, Peeva, Maya, Servattalab, Sarah, Lam, Anh-Thu N., Delgado, Mauricio R., Clegg, Nancy J., Al Zayed, Zayed, Dogar, Mohammad Asif, Alorainy, Ibrahim A., Jamea, Abdullah Abu, Abu-Amero, Khaled, Griebel, May, Ward, Wendy, Lein, Ed S., Markianos, Kyriacos, Barkovich, A. James, Robson, Caroline D., Grant, P. Ellen, Bosley, Thomas M., Engle, Elizabeth C., Walsh, Christopher A., Yu, Timothy W.
Publicado 2017