Výsledky vyhledávání - 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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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