检索结果 - Tischfield, Max A

Distinct α and β–tubulin isotypes are required for the positioning, differentiation, and survival of neurons: new support for the “multi-tubulin” hypothesis 由 Tischfield, Max A., Engle, Elizabeth C.

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Evidence of an Asymmetrical Endophenotype in Congenital Fibrosis of Extraocular Muscles Type 3 Resulting from TUBB3 Mutations 由 Demer, Joseph L., Clark, Robert A., Tischfield, Max A., Engle, Elizabeth C.

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Phenotypic spectrum of the Tubulin-related Disorders and Functional Implications of Disease-causing Mutations 由 Tischfield, Max A., Cederquist, Gustav Y., Gupta, Mohan L., Engle, Elizabeth C.

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HOXA1 Mutations are Not a Common Cause of Duane Anomaly 由 Tischfield, Max A, Chan, Wai-Man, Grunert, Jann-Frederik, Andrews, Caroline, Engle, Elizabeth C

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Recurrent Implication of Striatal Cholinergic Interneurons in a Range of Neurodevelopmental, Neurodegenerative, and Neuropsychiatric Disorders 由 Poppi, Lauren A., Ho-Nguyen, Khue Tu, Shi, Anna, Daut, Cynthia T., Tischfield, Max A.

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Ocular Motor Nerve Development in the Presence and Absence of Extraocular Muscle 由 Michalak, Suzanne M., Whitman, Mary C., Park, Jong G., Tischfield, Max A., Nguyen, Elaine H., Engle, Elizabeth C.

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Transient opening of the mitochondrial permeability transition pore induces microdomain calcium transients in astrocyte processes 由 Agarwal, Amit, Wu, Pei-Hsun, Hughes, Ethan G., Fukaya, Masahiro, Tischfield, Max A., Langseth, Abraham J., Wirtz, Denis, Bergles, Dwight E.

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The Clinical Spectrum of Homozygous HOXA1 Mutations 由 Bosley, Thomas M., Alorainy, Ibrahim A., Salih, Mustafa A., Aldhalaan, Hesham M., Abu-Amero, Khaled K., Oystreck, Darren T., Tischfield, Max A, Engle, Elizabeth C., Erickson, Robert P.

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Cerebral vein malformations result from loss of Twist1 expression and BMP signaling from skull progenitor cells and dura 由 Tischfield, Max A., Robson, Caroline D., Gilette, Nicole M., Chim, Shek Man, Sofela, Folasade A., DeLisle, Michelle M., Gelber, Alon, Barry, Brenda J., MacKinnon, Sarah, Dagi, Linda R., Nathans, Jeremy, Engle, Elizabeth C.

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Two Unique TUBB3 Mutations Cause Both CFEOM3 and Malformations of Cortical Development 由 Whitman, Mary C., Andrews, Caroline, Chan, Wai-Man, Tischfield, Max A., Stasheff, Steven F., Brancati, Francesco, Ortiz-Gonzalez, Xilma, Nuovo, Sara, Garaci, Francesco, MacKinnon, Sarah E., Hunter, David G., Grant, P. Ellen, Engle, Elizabeth C.

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Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects 由 Park, Jong G., Tischfield, Max A., Nugent, Alicia A., Cheng, Long, Di Gioia, Silvio Alessandro, Chan, Wai-Man, Maconachie, Gail, Bosley, Thomas M., Summers, C. Gail, Hunter, David G., Robson, Caroline D., Gottlob, Irene, Engle, Elizabeth C.

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An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation 由 Cederquist, Gustav Y., Luchniak, Anna, Tischfield, Max A., Peeva, Maya, Song, Yuyu, Menezes, Manoj P., Chan, Wai-Man, Andrews, Caroline, Chew, Sheena, Jamieson, Robyn V., Gomes, Lavier, Flaherty, Maree, Grant, Patricia Ellen, Gupta, Mohan L., Engle, Elizabeth C.

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

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Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance 由 Tischfield, Max A., Baris, Hagit N., Wu, Chen, Rudolph, Guenther, Van Maldergem, Lionel, He, Wei, Chan, Wai-Man, Andrews, Caroline, Demer, Joseph L., Robertson, Richard L., Mackey, David A., Ruddle, Jonathan B., Bird, Thomas D., Gottlob, Irene, Pieh, Christina, Traboulsi, Elias I., Pomeroy, Scott L., Hunter, David G., Soul, Janet S., Newlin, Anna, Sabol, Louise J., Doherty, Edward J., de Uzcátegui, Clara E., de Uzcátegui, Nicolas, Collins, Mary Louise Z., Sener, Emin C., Wabbels, Bettina, Hellebrand, Heide, Meitinger, Thomas, de Berardinis, Teresa, Magli, Adriano, Schiavi, Costantino, Pastore-Trossello, Marco, Koc, Feray, Wong, Agnes M., Levin, Alex V., Geraghty, Michael T., Descartes, Maria, Flaherty, Maree, Jamieson, Robyn V., Møller, H. U., Meuthen, Ingo, Callen, David F., Kerwin, Janet, Lindsay, Susan, Meindl, Alfons, Gupta, Mohan L., Pellman, David, Engle, Elizabeth C.

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