PMC Links for Nucleotide (Select 1677531421) - PMC

Select item 63602731.

The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons

Mattéa J Finelli, Davide Aprile, Enrico Castroflorio, Alexander Jeans, Matteo Moschetta, Lauren Chessum, Matteo T Degiacomi, Julia Grasegger, Alexis Lupien-Meilleur, Andrew Bassett, Elsa Rossignol, Philippe M Campeau, Michael R Bowl, Fabio Benfenati, Anna Fassio, Peter L Oliver

Hum Mol Genet. 2019 Feb 15; 28(4): 584–597. Published online 2018 Oct 17. doi: 10.1093/hmg/ddy370

PMCID:: PMC6360273

Article PDF–21M

Select item 61132262.

TBC1d24-ephrinB2 interaction regulates contact inhibition of locomotion in neural crest cell migration

Jaeho Yoon, Yoo-Seok Hwang, Moonsup Lee, Jian Sun, Hee Jun Cho, Laura Knapik, Ira O. Daar

Nat Commun. 2018; 9: 3491. Published online 2018 Aug 28. doi: 10.1038/s41467-018-05924-9

PMCID:: PMC6113226

Article PDF–2.7M

Select item 29333423.

A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24

Mark A. Corbett, Melanie Bahlo, Lachlan Jolly, Zaid Afawi, Alison E. Gardner, Karen L. Oliver, Stanley Tan, Amy Coffey, John C. Mulley, Leanne M. Dibbens, Walid Simri, Adel Shalata, Sara Kivity, Graeme D. Jackson, Samuel F. Berkovic, Jozef Gecz

Am J Hum Genet. 2010 Sep 10; 87(3): 371–375. doi: 10.1016/j.ajhg.2010.08.001

PMCID:: PMC2933342

Article PDF–618K

Select item 29333354.

TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy

Antonio Falace, Fabia Filipello, Veronica La Padula, Nicola Vanni, Francesca Madia, Davide De Pietri Tonelli, Fabrizio A. de Falco, Pasquale Striano, Franca Dagna Bricarelli, Carlo Minetti, Fabio Benfenati, Anna Fassio, Federico Zara

Am J Hum Genet. 2010 Sep 10; 87(3): 365–370. doi: 10.1016/j.ajhg.2010.07.020

PMCID:: PMC2933335

Article PDF–835K

Select item 20648545.

Functional dissection of Rab GTPases involved in primary cilium formation

Shin-ichiro Yoshimura, Johannes Egerer, Evelyn Fuchs, Alexander K. Haas, Francis A. Barr

J Cell Biol. 2007 Jul 30; 178(3): 363–369. doi: 10.1083/jcb.200703047

PMCID:: PMC2064854

Article PDF–3.8M

Select item 51365156.

Unresolved questions regarding human hereditary deafness

AU Rehman, TB Friedman, AJ Griffith

Oral Dis. Author manuscript; available in PMC 2018 Jul 1.

Published in final edited form as: Oral Dis. 2017 Jul; 23(5): 551–558. Published online 2016 Jul 11. doi: 10.1111/odi.12516

PMCID:: PMC5136515

Article PDF–563K

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