フォロー
Elizabeth C. Engle, MD
Elizabeth C. Engle, MD
Investigator, Boston Children's Hospital & HHMI / Professor, Harvard Medical School
確認したメール アドレス: enders.tch.harvard.edu - ホームページ
タイトル
引用先
引用先
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance
MA Tischfield, HN Baris, C Wu, G Rudolph, L Van Maldergem, W He, ...
Cell 140 (1), 74-87, 2010
6632010
Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography: a predictor of visual acuity?
MG Thomas, A Kumar, S Mohammad, FA Proudlock, EC Engle, ...
Ophthalmology 118 (8), 1653-1660, 2011
4562011
Mutations in a Human ROBO Gene Disrupt Hindbrain Axon Pathway Crossing and Morphogenesis
JC Jen, WM Chan, TM Bosley, J Wan, JR Carr, U Rüb, D Shattuck, ...
Science 304 (5676), 1509-1513, 2004
4412004
Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family
R Al-Baradie, K Yamada, CS Hilaire, WM Chan, C Andrews, N McIntosh, ...
The American Journal of Human Genetics 71 (5), 1195-1199, 2002
3592002
Deletions of NRXN1 (neurexin‐1) predispose to a wide spectrum of developmental disorders
MSL Ching, Y Shen, WH Tan, SS Jeste, EM Morrow, X Chen, ...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 153 …, 2010
3492010
Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development
MA Tischfield, TM Bosley, MAM Salih, IA Alorainy, EC Sener, MJ Nester, ...
Nature genetics 37 (10), 1035-1037, 2005
3322005
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)
K Yamada, C Andrews, WM Chan, CA McKeown, A Magli, ...
Nature genetics 35 (4), 318-321, 2003
3112003
Human genetic disorders of axon guidance
EC Engle
Cold Spring Harbor perspectives in biology 2 (3), a001784, 2010
2722010
Homozygous mutations in ARIX (PHOX2A) result in congenital fibrosis of the extraocular muscles type 2
M Nakano, K Yamada, J Fain, EC Sener, CJ Selleck, AH Awad, J Zwaan, ...
Nature genetics 29 (3), 315-320, 2001
2702001
Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations
MA Tischfield, GY Cederquist, ML Gupta Jr, EC Engle
Current opinion in genetics & development 21 (3), 286-294, 2011
2402011
Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles
EC Engle, BC Goumnerov, CA McKeown, M Schatz, DR Johns, JD Porter, ...
Annals of neurology 41 (3), 314-325, 1997
2161997
110th ENMc international workshop: the congenital cranial dysinnervation disorders (CCDDs): naarden, The Netherlands, 25–27 October, 2002
NJ Gutowski, TM Bosley, EC Engle
Neuromuscular disorders 13 (7-8), 573-578, 2003
2032003
Human CHN1 mutations hyperactivate α2-chimaerin and cause Duane's retraction syndrome
N Miyake, J Chilton, M Psatha, L Cheng, C Andrews, WM Chan, K Law, ...
Science 321 (5890), 839-843, 2008
1922008
Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A
JL Demer, RA Clark, EC Engle
Investigative ophthalmology & visual science 46 (2), 530-539, 2005
1672005
CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24. 2-q24. 3
EJ Doherty, ME Macy, SM Wang, CP Dykeman, MT Melanson, EC Engle
Investigative ophthalmology & visual science 40 (8), 1687-1694, 1999
1631999
Distinct α-and β-tubulin isotypes are required for the positioning, differentiation and survival of neurons: new support for the ‘multi-tubulin’hypothesis
MA Tischfield, EC Engle
Bioscience reports 30 (5), 319-330, 2010
1552010
Neuronal-specific TUBB3 is not required for normal neuronal function but is essential for timely axon regeneration
A Latremoliere, L Cheng, M DeLisle, C Wu, S Chew, EB Hutchinson, ...
Cell reports 24 (7), 1865-1879. e9, 2018
1522018
Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12
EC Engle, LM Kunkel, LA Specht, AH Beggs
Nature genetics 7 (1), 69-73, 1994
1411994
An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation
GY Cederquist, A Luchniak, MA Tischfield, M Peeva, Y Song, ...
Human molecular genetics 21 (26), 5484-5499, 2012
1382012
Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13
SM Wang, J Zwaan, PB Mullaney, MH Jabak, A Al-Awad, AH Beggs, ...
The American Journal of Human Genetics 63 (2), 517-525, 1998
1321998
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