Elizabeth C Engle

Elizabeth C Engle

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Elizabeth C Engle

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Etv1 Controls the Establishment of Non-overlapping Motor Innervation of Neighboring Facial Muscles during Development.

Cell Rep 2019 Oct;29(2):437-452.e4

Center for Motor Neuron Biology and Disease (MNC), Columbia University, New York, NY 10032, USA; Columbia Stem Cell Initiative (CSCI), Columbia University, New York, NY 10032, USA; Columbia Translational Neuroscience Initiative (CTNI), Columbia University, New York, NY 10032, USA; Department of Rehabilitation and Regenerative Medicine, Columbia University, New York, NY 10032, USA; Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA; Department of Neurology, Columbia University, New York, NY 10032, USA; Department of Neuroscience, Columbia University, New York, NY 10032, USA.

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http://dx.doi.org/10.1016/j.celrep.2019.08.078DOI Listing
October 2019

Outcomes of strabismus surgery in genetically confirmed congenital fibrosis of the extraocular muscles.

J AAPOS 2019 Sep 18. Epub 2019 Sep 18.

Department of Ophthalmology, Boston Children's Hospital/Harvard Medical School, Boston, Massachusetts. Electronic address:

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http://dx.doi.org/10.1016/j.jaapos.2019.05.018DOI Listing
September 2019

Congenital monocular elevation deficiency associated with a novel gene variant.

Br J Ophthalmol 2019 Jul 13. Epub 2019 Jul 13.

Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, UK.

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http://dx.doi.org/10.1136/bjophthalmol-2019-314293DOI Listing
July 2019

Ex Vivo Oculomotor Slice Culture from Embryonic GFP-Expressing Mice for Time-Lapse Imaging of Oculomotor Nerve Outgrowth.

J Vis Exp 2019 Jul 16(149). Epub 2019 Jul 16.

Department of Ophthalmology, Boston Children's Hospital; Department of Ophthalmology, Harvard Medical School; F.M. Kirby Neurobiology Center, Boston Children's Hospital; Department of Neurology, Boston Children's Hospital; Department of Neurology, Harvard Medical School; Howard Hughes Medical Institute.

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http://dx.doi.org/10.3791/59911DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6771922PMC
July 2019

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

Cell Rep 2018 08;24(7):1865-1879.e9

Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA; Department of Neurology, Boston Children's Hospital, Boston, MA, USA; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA; Howard Hughes Medical Institute, Chevy Chase, MD, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2018.07.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6155462PMC
August 2018

Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies.

Am J Hum Genet 2018 07 7;103(1):115-124. Epub 2018 Jun 7.

Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of M.I.T. and Harvard, Cambridge, MA 02142, USA; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA; Department Ophthalmology, Boston Children's Hospital, Boston, MA 02115, USA; Department of Ophthalmology, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.05.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6035164PMC
July 2018

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

Dev Cell 2017 09 30;42(5):445-461.e5. Epub 2017 Aug 30.

Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; Department of Ophthalmology, Boston Children's Hospital, Boston, MA 02115, USA; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA; Department of Ophthalmology, Harvard Medical School, Boston, MA 02115, USA; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA. Electronic address:

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http://dx.doi.org/10.1016/j.devcel.2017.07.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5595652PMC
September 2017

Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance.

Hum Mol Genet 2017 08;26(R1):R37-R44

F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA.

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http://dx.doi.org/10.1093/hmg/ddx168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886468PMC
August 2017

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

Invest Ophthalmol Vis Sci 2017 04;58(4):2388-2396

Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, United States 2F. M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts, United States 3Department of Neurology, Harvard Medical School, Boston, Massachusetts, United States 5Howard Hughes Medical Institute, Chevy Chase, Maryland, United States 6Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, United States 7Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, United States.

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http://dx.doi.org/10.1167/iovs.16-21268DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5403115PMC
April 2017

Retinal Dysfunction in Patients with Congenital Fibrosis of the Extraocular Muscles Type 2.

Ophthalmic Genet 2016 06 18;37(2):130-6. Epub 2014 Jun 18.

b Department of Ophthalmology , College of Medicine, King Saud University , Riyadh , Saudi Arabia .

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http://dx.doi.org/10.3109/13816810.2014.926942DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4270951PMC
June 2016

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

Am J Hum Genet 2016 06 12;98(6):1220-1227. Epub 2016 May 12.

Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA; Program in Neuroscience, Harvard Medical School, Boston, MA 02115, USA; Department of Ophthalmology, Boston Children's Hospital, Boston, MA 02115, USA; Department of Ophthalmology, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.03.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908193PMC
June 2016

Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome.

J Clin Endocrinol Metab 2015 Mar 5;100(3):E473-7. Epub 2015 Jan 5.

Harvard Reproductive Endocrine Sciences Center (R.B.), The Reproductive Endocrine Unit of the Department of Medicine (R.B.), Massachusetts General Hospital, Boston, Massachusetts 02114; Harvard Medical School (R.B., S.C., P.B.K., C.A., W.-M.C., E.C.E.), Boston, Massachusetts 02115; Department of Neurology (S.C., P.B.K., C.A., W.-M.C., E.C.E.), Kirby Neurobiology Center (S.C., C.A., W.-M.C., E.C.E.), and Department of Ophthalmology (S.E.M., E.C.E.), Boston Children's Hospital, Boston, Massachusetts 02115; and Howard Hughes Medical Institute (S.C., C.A., W.-M.C., E.C.E.), Chevy Chase, Maryland 20815.

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http://dx.doi.org/10.1210/jc.2014-4107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4333039PMC
March 2015

Menkes disease in affected females: the clinical disease spectrum.

Am J Med Genet A 2015 Feb 26;167A(2):417-20. Epub 2014 Nov 26.

Division of Genetics & Metabolism, Children's National Health System, Washington, District of Columbia; The George Washington University School of Medicine and Health Sciences, Washington, District of Columbia.

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http://dx.doi.org/10.1002/ajmg.a.36853DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351723PMC
February 2015

Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.

Ophthalmology 2014 Jul 6;121(7):1461-8. Epub 2014 Mar 6.

Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts; F. B. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts; Department of Neurology, Harvard Medical School, Boston, Massachusetts; Howard Hughes Medical Institute, Chevy Chase, Maryland. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2014.01.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4082742PMC
July 2014

Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling.

Neuron 2014 Apr 20;82(2):334-49. Epub 2014 Mar 20.

Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA; Program in Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Department of Medicine (Genetics), Boston Children's Hospital, Boston, MA 02115, USA; Department of Ophthalmology, Boston Children's Hospital, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA; Program in Neuroscience, Harvard Medical School, Boston, MA 02115, USA; Department of Ophthalmology, Harvard Medical School, Boston, MA 02115, USA; Howard Hughes Medical Institute, 4000 Jones Bridge Road, Chevy Chase, MD 20815, USA; The Broad Institute of Harvard and MIT, 301 Binney Street, Cambridge, MA 02142, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2014.02.038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4002761PMC
April 2014

RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia.

JAMA Ophthalmol 2013 Dec;131(12):1532-40

Department of Neurology, Boston Children's Hospital, Boston, Massachusetts2F. B. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts3Program in Genomics, Boston Children's Hospital, Boston, Massachusetts4Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts8Howard Hughes Medical Institute, Chevy Chase, Maryland16Department of Medicine (Genetics), Boston Children's Hospital, Boston, Massachusetts17Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts18Department of Neurology, Harvard Medical School, Boston, Massachusetts19Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts20Broad Institute of MIT and Harvard, Cambridge, Massachusetts.

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http://dx.doi.org/10.1001/jamaophthalmol.2013.4392DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865174PMC
December 2013

Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome.

Clin Case Rep 2013 10;1(1)

Program in Genomics, Boston Children's Hospital, Boston, MA 02115 USA ; Department of Medicine (Genetics), Boston Children's Hospital, Boston, MA 02115 USA ; Department of Neurology, Boston Children's Hospital, Boston, MA 02115 USA ; Department of Ophthalmology, Boston Children's Hospital, Boston, MA 02115 USA ; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115 USA ; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115 USA ; Harvard Medical School, Boston, MA 02115 USA ; Howard Hughes Medical Institute, Chevy Chase, MD 20815 USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3885256PMC
http://dx.doi.org/10.1002/ccr3.11DOI Listing
October 2013

Human disorders of axon guidance.

Curr Opin Neurobiol 2012 Oct 5;22(5):837-43. Epub 2012 Mar 5.

Department of Neurology, FM Kirby Neurobiology Center, and The Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.conb.2012.02.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3388149PMC
October 2012

Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).

Gene Expr Patterns 2012 May-Jun;12(5-6):180-8. Epub 2012 Mar 23.

Department of Neurology, Children's Hospital Boston, 300 Longwood Ave., Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.gep.2012.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3358471PMC
August 2012

Wildervanck's syndrome and mirror movements: a congenital disorder of axon migration?

J Neurol 2012 Apr 23;259(4):761-3. Epub 2011 Sep 23.

Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität, Marchioninistr.15, 81377 Munich, Germany.

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http://dx.doi.org/10.1007/s00415-011-6239-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3517171PMC
April 2012

Crystalline cataract caused by a heterozygous missense mutation in γD-crystallin (CRYGD).

Mol Vis 2011 20;17:3333-8. Epub 2011 Dec 20.

Department of Ophthalmology, Children's Hospital Boston, Harvard Medical School, Boston, MA, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3247172PMC
April 2012

Expansion of the CHN1 strabismus phenotype.

Invest Ophthalmol Vis Sci 2011 Aug 11;52(9):6321-8. Epub 2011 Aug 11.

Departments of Neurology, Children’s Hospital Boston, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1167/iovs.11-7950DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3175992PMC
August 2011

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

Curr Opin Genet Dev 2011 Jun 1;21(3):286-94. Epub 2011 Feb 1.

Department of Molecular Biology and Genetics, Johns Hopkins Medical School, 725 North Wolfe St., PCTB 804, Baltimore, MD 21205, United States.

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http://dx.doi.org/10.1016/j.gde.2011.01.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3100401PMC
June 2011

Two novel CHN1 mutations in 2 families with Duane retraction syndrome.

Arch Ophthalmol 2011 May;129(5):649-52

Department of Neurology, Children's Hospital Boston, 300 Longwood Ave, Boston, MA 02115, USA.

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http://dx.doi.org/10.1001/archophthalmol.2011.84DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3517173PMC
May 2011

Recent progress in understanding congenital cranial dysinnervation disorders.

J Neuroophthalmol 2011 Mar;31(1):69-77

Department of Ophthalmology, College of Medicine, King Saud University, and King Abdulaziz University Hospital, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1097/WNO.0b013e31820d0756DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3524829PMC
March 2011

Allelic diversity in human developmental neurogenetics: insights into biology and disease.

Neuron 2010 Oct;68(2):245-53

Division of Genetics, Department of Neurology, Howard Hughes Medical Institute, Children's Hospital, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.neuron.2010.09.042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3010396PMC
October 2010

KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM).

Mol Vis 2010 Oct 13;16:2062-70. Epub 2010 Oct 13.

Department of Ophthalmology, Medical College of Qingdao University, the Affiliated Hospital of Medical College Qingdao University, Qingdao, Shandong Province, China.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2965570PMC
October 2010

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

Invest Ophthalmol Vis Sci 2010 Sep 14;51(9):4600-11. Epub 2010 Apr 14.

Jules Stein Eye Institute, Department of Ophthalmology, University of California, Los Angeles, CA 90095-7002, USA.

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.1
Publisher Site
http://dx.doi.org/10.1167/iovs.10-5438DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2941178PMC
September 2010

Distinct alpha- and beta-tubulin isotypes are required for the positioning, differentiation and survival of neurons: new support for the 'multi-tubulin' hypothesis.

Biosci Rep 2010 Apr 15;30(5):319-30. Epub 2010 Apr 15.

Department of Neurology and Ophthalmology, Manten Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School, MA, USA.

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http://dx.doi.org/10.1042/BSR20100025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3319081PMC
April 2010

Human genetic disorders of axon guidance.

Cold Spring Harb Perspect Biol 2010 Mar;2(3):a001784

Department of Neurology, FM Kirby Neurobiology Center, Program in Genomics, Children's Hospital Boston, Massachusetts 02115-5737, USA.

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http://dx.doi.org/10.1101/cshperspect.a001784DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2829956PMC
March 2010

HOXA1 mutations are not a common cause of Möbius syndrome.

J AAPOS 2010 Feb;14(1):78-80

Department of Neurology, Children's Hospital Boston, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1016/j.jaapos.2009.11.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2862693PMC
February 2010

CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome.

Am J Med Genet A 2010 Jan;152A(1):215-7

Department of Neurology, Children's Hospital Boston, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/ajmg.a.33168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2801889PMC
January 2010

Synergistic divergence: a distinct ocular motility dysinnervation pattern.

Invest Ophthalmol Vis Sci 2009 Nov 2;50(11):5213-6. Epub 2009 Jul 2.

Pediatric Ophthalmology Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1167/iovs.08-2928DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2787189PMC
November 2009

Magnetic resonance imaging of the endophenotype of a novel familial Möbius-like syndrome.

J AAPOS 2008 Aug 2;12(4):381-9. Epub 2008 May 2.

Jules Stein Eye Institute Department of Ophthalmology, Los Angeles, California, USA.

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http://dx.doi.org/10.1016/j.jaapos.2008.01.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2562269PMC
August 2008

The clinical spectrum of homozygous HOXA1 mutations.

Am J Med Genet A 2008 May;146A(10):1235-40

The Neuro-ophthalmology Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.32262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3517166PMC
May 2008

Congenital fibrosis of the extraocular muscles.

Semin Ophthalmol 2008 Jan-Feb;23(1):3-8

Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA.

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http://dx.doi.org/10.1080/08820530701745181DOI Listing
February 2008

Magnetic resonance imaging of innervational and extraocular muscle abnormalities in Duane-radial ray syndrome.

Invest Ophthalmol Vis Sci 2007 Dec;48(12):5505-11

Department of Ophthalmology, Jules Stein Eye Institute, University of California, Los Angeles, CA 90095-7002, USA.

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http://dx.doi.org/10.1167/iovs.07-0772DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2775804PMC
December 2007

Oculomotility disorders arising from disruptions in brainstem motor neuron development.

Arch Neurol 2007 May;64(5):633-7

Program in Genomics, Department of Neurology, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1001/archneur.64.5.633DOI Listing
May 2007

Abnormalities of the oculomotor nerve in congenital fibrosis of the extraocular muscles and congenital oculomotor palsy.

Invest Ophthalmol Vis Sci 2007 Apr;48(4):1601-6

Jules Stein Eye Institute, Department of Ophthalmology, University of California-Los Angeles, 100 Stein Plaza, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1167/iovs.06-0691DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2262868PMC
April 2007

Genetic basis of congenital strabismus.

Arch Ophthalmol 2007 Feb;125(2):189-95

Program in Genomics and Department of Neurology, Children's Hospital Boston, 300 Longwood Avenue, Boston, MA 02115, USA.

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http://dx.doi.org/10.1001/archopht.125.2.189DOI Listing
February 2007

Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus.

Invest Ophthalmol Vis Sci 2007 Jan;48(1):189-93

Program in Genomics, Children's Hospital, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1167/iovs.06-0631DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2829295PMC
January 2007

Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A.

Brain 2006 Sep 30;129(Pt 9):2363-74. Epub 2006 Jun 30.

Neuro-ophthalmology Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1093/brain/awl161DOI Listing
September 2006

High-resolution magnetic resonance imaging demonstrates abnormalities of motor nerves and extraocular muscles in patients with neuropathic strabismus.

J AAPOS 2006 Apr;10(2):135-42

Department of Ophthalmology, Jules Stein Dye Institute, University of California, Los Angeles, California 90095-7002, and Department of Medicine, Children's Hospital Boston, MA, USA.

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http://dx.doi.org/10.1016/j.jaapos.2005.12.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1847327PMC
April 2006

The genetic basis of complex strabismus.

Pediatr Res 2006 Mar;59(3):343-8

Program in Genomics, Children's Hospital Boston, MA 02115, USA.

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http://dx.doi.org/10.1203/01.pdr.0000200797.91630.08DOI Listing
March 2006

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

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

Department of Medicine, Program in Genomics, Children's Hospital Boston, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1038/ng1636DOI Listing
October 2005

A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon.

Arch Ophthalmol 2005 Sep;123(9):1254-9

Division of Genetics and Department of Ophthalmology, Children's Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA.

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http://dx.doi.org/10.1001/archopht.123.9.1254DOI Listing
September 2005

Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A.

Invest Ophthalmol Vis Sci 2005 Feb;46(2):530-9

Jules Stein Eye Institute, Department of Ophthalmology, University of California, Los Angeles, CA 90095-7002, USA.

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.0
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http://dx.doi.org/10.1167/iovs.04-1125DOI Listing
February 2005

Mutations in KIF21A are responsible for CFEOM1 worldwide.

Ophthalmic Genet 2004 Dec;25(4):237-9

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http://dx.doi.org/10.1080/13816810490911684DOI Listing
December 2004

A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2).

Am J Ophthalmol 2003 Nov;136(5):861-5

Department of Pediatric Ophthalmology and Strabismus and the Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA.

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http://dx.doi.org/10.1016/s0002-9394(03)00891-2DOI Listing
November 2003

Congenital fibrosis syndrome associated with central nervous system abnormalities.

Graefes Arch Clin Exp Ophthalmol 2003 Jul 18;241(7):546-553. Epub 2003 Jun 18.

Department of Ophthalmology, Leicester Warwick Medical School, Leicester Royal Infirmary, Leicester, LE1 5WW, UK.

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http://dx.doi.org/10.1007/s00417-003-0703-zDOI Listing
July 2003

Acute ataxia in childhood.

J Child Neurol 2003 May;18(5):309-16

Department of Neurology, Children's Hospital Boston, Boston, MA 02115, USA.

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http://dx.doi.org/10.1177/08830738030180050901DOI Listing
May 2003

Elevation of one eye during tooth brushing.

Am J Ophthalmol 2002 Sep;134(3):459-60

Department of Ophthalmology, Leicester Warwick Medical School, United Kingdom.

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http://dx.doi.org/10.1016/s0002-9394(02)01540-4DOI Listing
September 2002

Familial unilateral Brown syndrome.

Ophthalmic Genet 2002 Sep;23(3):175-84

Department of Ophthalmology, University of Tennessee, Memphis, TN 38163, USA.

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http://dx.doi.org/10.1076/opge.23.3.175.7882DOI Listing
September 2002

Genes, brainstem development, and eye movements.

Neurology 2002 Aug;59(3):304-5

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http://dx.doi.org/10.1212/wnl.59.3.304DOI Listing
August 2002

The molecular basis of the congenital fibrosis syndromes.

Strabismus 2002 Jun;10(2):125-8

Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1076/stra.10.2.125.8142DOI Listing
June 2002

Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus.

Hum Genet 2002 May 23;110(5):510-2. Epub 2002 Mar 23.

Royal Victorian Eye and Ear Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1007/s00439-002-0707-5DOI Listing
May 2002

Applications of molecular genetics to the understanding of congenital ocular motility disorders.

Ann N Y Acad Sci 2002 Apr;956:55-63

Neurology and Pediatrics (Genetics) Children's Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1111/j.1749-6632.2002.tb02808.xDOI Listing
April 2002