Year |
Citation |
Score |
2023 |
Nasello C, Poppi LA, Wu J, Kowalski TF, Thackray JK, Wang R, Persaud A, Mahboob M, Lin S, Spaseska R, Johnson CK, Gordon D, Tissir F, Heiman GA, Tischfield JA, ... ... Tischfield MA, et al. Human mutations in high-confidence Tourette disorder genes affect sensorimotor behavior, reward learning, and striatal dopamine in mice. Biorxiv : the Preprint Server For Biology. PMID 38077033 DOI: 10.1101/2023.11.28.569034 |
0.606 |
|
2022 |
Wu J, Poppi LA, Tischfield MA. Planar cell polarity and the pathogenesis of Tourette Disorder: New hypotheses and perspectives. Developmental Biology. 489: 14-20. PMID 35644250 DOI: 10.1016/j.ydbio.2022.05.017 |
0.664 |
|
2021 |
Poppi LA, Ho-Nguyen KT, Shi A, Daut CT, Tischfield MA. Recurrent Implication of Striatal Cholinergic Interneurons in a Range of Neurodevelopmental, Neurodegenerative, and Neuropsychiatric Disorders. Cells. 10. PMID 33920757 DOI: 10.3390/cells10040907 |
0.642 |
|
2018 |
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, ... ... Tischfield MA, et al. Neuronal-Specific TUBB3 Is Not Required for Normal Neuronal Function but Is Essential for Timely Axon Regeneration. Cell Reports. 24: 1865-1879.e9. PMID 30110642 DOI: 10.1016/J.Celrep.2018.07.029 |
0.309 |
|
2017 |
Tischfield MA, Robson CD, Gilette NM, Chim SM, Sofela FA, DeLisle MM, Gelber A, Barry BJ, MacKinnon S, Dagi LR, Nathans J, Engle EC. Cerebral Vein Malformations Result from Loss of Twist1 Expression and BMP Signaling from Skull Progenitor Cells and Dura. Developmental Cell. PMID 28844842 DOI: 10.1016/J.Devcel.2017.07.027 |
0.557 |
|
2016 |
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. Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects. American Journal of Human Genetics. PMID 27181683 DOI: 10.1016/J.Ajhg.2016.03.023 |
0.373 |
|
2015 |
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. Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development. American Journal of Medical Genetics. Part A. PMID 26639658 DOI: 10.1002/Ajmg.A.37362 |
0.405 |
|
2014 |
Zhou Y, Wang Y, Tischfield M, Williams J, Smallwood PM, Rattner A, Taketo MM, Nathans J. Canonical WNT signaling components in vascular development and barrier formation. The Journal of Clinical Investigation. 124: 3825-46. PMID 25083995 DOI: 10.1172/Jci76431 |
0.529 |
|
2012 |
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, Engle EC. An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. Human Molecular Genetics. 21: 5484-99. PMID 23001566 DOI: 10.1093/Hmg/Dds393 |
0.373 |
|
2011 |
Tischfield MA, Cederquist GY, Gupta ML, Engle EC. Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations. Current Opinion in Genetics & Development. 21: 286-94. PMID 21292473 DOI: 10.1016/J.Gde.2011.01.003 |
0.483 |
|
2010 |
Tischfield MA, Engle EC. Distinct alpha- and beta-tubulin isotypes are required for the positioning, differentiation and survival of neurons: new support for the 'multi-tubulin' hypothesis. Bioscience Reports. 30: 319-30. PMID 20406197 DOI: 10.1042/Bsr20100025 |
0.304 |
|
2010 |
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, et al. Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell. 140: 74-87. PMID 20074521 DOI: 10.1016/J.Cell.2009.12.011 |
0.449 |
|
2008 |
Bosley TM, Alorainy IA, Salih MA, Aldhalaan HM, Abu-Amero KK, Oystreck DT, Tischfield MA, Engle EC, Erickson RP. The clinical spectrum of homozygous HOXA1 mutations. American Journal of Medical Genetics. Part A. 146: 1235-40. PMID 18412118 DOI: 10.1002/Ajmg.A.32262 |
0.341 |
|
2007 |
Bosley TM, Salih MA, Alorainy IA, Oystreck DT, Nester M, Abu-Amero KK, Tischfield MA, Engle EC. Clinical characterization of the HOXA1 syndrome BSAS variant. Neurology. 69: 1245-53. PMID 17875913 DOI: 10.1212/01.Wnl.0000276947.59704.Cf |
0.418 |
|
2006 |
Tischfield MA, Chan WM, Grunert JF, Andrews C, Engle EC. HOXA1 mutations are not a common cause of Duane anomaly. American Journal of Medical Genetics. Part A. 140: 900-2. PMID 16528738 DOI: 10.1002/Ajmg.A.31167 |
0.323 |
|
2005 |
Tischfield MA, Bosley TM, Salih MA, Alorainy IA, Sener EC, Nester MJ, Oystreck DT, Chan WM, Andrews C, Erickson RP, Engle EC. Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. Nature Genetics. 37: 1035-7. PMID 16155570 DOI: 10.1038/Ng1636 |
0.455 |
|
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