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Items: 16


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

Latremoliere A, Cheng L, DeLisle M, Wu C, Chew S, Hutchinson EB, Sheridan A, Alexandre C, Latremoliere F, Sheu SH, Golidy S, Omura T, Huebner EA, Fan Y, Whitman MC, Nguyen E, Hermawan C, Pierpaoli C, Tischfield MA, Woolf CJ, Engle EC.

Cell Rep. 2018 Aug 14;24(7):1865-1879.e9. doi: 10.1016/j.celrep.2018.07.029.


Cerebral Vein Malformations Result from Loss of Twist1 Expression and BMP Signaling from Skull Progenitor Cells and Dura.

Tischfield MA, Robson CD, Gilette NM, Chim SM, Sofela FA, DeLisle MM, Gelber A, Barry BJ, MacKinnon S, Dagi LR, Nathans J, Engle EC.

Dev Cell. 2017 Sep 11;42(5):445-461.e5. doi: 10.1016/j.devcel.2017.07.027. Epub 2017 Aug 30.


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

Michalak SM, Whitman MC, Park JG, Tischfield MA, Nguyen EH, Engle EC.

Invest Ophthalmol Vis Sci. 2017 Apr 1;58(4):2388-2396. doi: 10.1167/iovs.16-21268.


Transient Opening of the Mitochondrial Permeability Transition Pore Induces Microdomain Calcium Transients in Astrocyte Processes.

Agarwal A, Wu PH, Hughes EG, Fukaya M, Tischfield MA, Langseth AJ, Wirtz D, Bergles DE.

Neuron. 2017 Feb 8;93(3):587-605.e7. doi: 10.1016/j.neuron.2016.12.034. Epub 2017 Jan 26.


Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects.

Park JG, Tischfield MA, Nugent AA, Cheng L, Di Gioia SA, Chan WM, Maconachie G, Bosley TM, Summers CG, Hunter DG, Robson CD, Gottlob I, Engle EC.

Am J Hum Genet. 2016 Jun 2;98(6):1220-1227. doi: 10.1016/j.ajhg.2016.03.023. Epub 2016 May 12.


Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.

Whitman MC, Andrews C, Chan WM, Tischfield MA, Stasheff SF, Brancati F, Ortiz-Gonzalez X, Nuovo S, Garaci F, MacKinnon SE, Hunter DG, Grant PE, Engle EC.

Am J Med Genet A. 2016 Feb;170A(2):297-305. doi: 10.1002/ajmg.a.37362. Epub 2015 Dec 6.


Canonical WNT signaling components in vascular development and barrier formation.

Zhou Y, Wang Y, Tischfield M, Williams J, Smallwood PM, Rattner A, Taketo MM, Nathans J.

J Clin Invest. 2014 Sep;124(9):3825-46. doi: 10.1172/JCI76431. Epub 2014 Aug 1.


An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.

Cederquist GY, Luchniak A, Tischfield MA, Peeva M, Song Y, Menezes MP, Chan WM, Andrews C, Chew S, Jamieson RV, Gomes L, Flaherty M, Grant PE, Gupta ML Jr, Engle EC.

Hum Mol Genet. 2012 Dec 15;21(26):5484-99. doi: 10.1093/hmg/dds393. Epub 2012 Sep 21.


Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.

Tischfield MA, Cederquist GY, Gupta ML Jr, Engle EC.

Curr Opin Genet Dev. 2011 Jun;21(3):286-94. doi: 10.1016/j.gde.2011.01.003. Epub 2011 Feb 1. Review.


Evidence of an asymmetrical endophenotype in congenital fibrosis of extraocular muscles type 3 resulting from TUBB3 mutations.

Demer JL, Clark RA, Tischfield MA, Engle EC.

Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4600-11. doi: 10.1167/iovs.10-5438. Epub 2010 Apr 14.


Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.

Tischfield MA, Baris HN, Wu C, Rudolph G, Van Maldergem L, He W, Chan WM, Andrews C, Demer JL, Robertson RL, Mackey DA, Ruddle JB, Bird TD, Gottlob I, Pieh C, Traboulsi EI, Pomeroy SL, Hunter DG, Soul JS, Newlin A, Sabol LJ, Doherty EJ, de Uzcátegui CE, de Uzcátegui N, Collins ML, Sener EC, Wabbels B, Hellebrand H, Meitinger T, de Berardinis T, Magli A, Schiavi C, Pastore-Trossello M, Koc F, Wong AM, Levin AV, Geraghty MT, Descartes M, Flaherty M, Jamieson RV, Møller HU, Meuthen I, Callen DF, Kerwin J, Lindsay S, Meindl A, Gupta ML Jr, Pellman D, Engle EC.

Cell. 2010 Jan 8;140(1):74-87. doi: 10.1016/j.cell.2009.12.011.


The clinical spectrum of homozygous HOXA1 mutations.

Bosley TM, Alorainy IA, Salih MA, Aldhalaan HM, Abu-Amero KK, Oystreck DT, Tischfield MA, Engle EC, Erickson RP.

Am J Med Genet A. 2008 May 15;146A(10):1235-40. doi: 10.1002/ajmg.a.32262.


Clinical characterization of the HOXA1 syndrome BSAS variant.

Bosley TM, Salih MA, Alorainy IA, Oystreck DT, Nester M, Abu-Amero KK, Tischfield MA, Engle EC.

Neurology. 2007 Sep 18;69(12):1245-53.


HOXA1 mutations are not a common cause of Duane anomaly.

Tischfield MA, Chan WM, Grunert JF, Andrews C, Engle EC.

Am J Med Genet A. 2006 Apr 15;140(8):900-2. Review. No abstract available.


Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development.

Tischfield MA, Bosley TM, Salih MA, Alorainy IA, Sener EC, Nester MJ, Oystreck DT, Chan WM, Andrews C, Erickson RP, Engle EC.

Nat Genet. 2005 Oct;37(10):1035-7. Epub 2005 Sep 11.


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