Professor of Neurology and Ophthalmology, Boston Children's Hospital

Neurology

Doctor Elizabeth C. Engle, MD works in the field of Neurology. She went to medical school at Johns Hopkins University School of Medicine. Johns Hopkins University School of Medicine is a top medical university. Johns Hopkins University School of Medicine is ranked 3 in research and 29 in primary care medicine She received 1 awards: "Investigator". Elizabeth C. Engle, MD has written publications. She has 88 publications published with PubMed. The lastest paper is: 'Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13.'

Publications

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• Expanding the Phenotypic Spectrum and Variability of Endocrine Abnormalities Associated With TUBB3 E410K Syndrome.
• Menkes disease in affected females: The clinical disease spectrum.
• Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.
• Human CFEOM1 Mutations Attenuate KIF21A Autoinhibition and Cause Oculomotor Axon Stalling.
• Diagnostic Distinctions and Genetic Analysis of Patients Diagnosed with Moebius Syndrome.
• Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome.
• RYR1 Mutations as a Cause of Ophthalmoplegia, Facial Weakness, and Malignant Hyperthermia.
• A novel syndrome caused by the E410K amino acid substitution in the neuronal ?-tubulin isotype 3.
• Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).
• Wildervanck's syndrome and mirror movements: a congenital disorder of axon migration?
• Expansion of the CHN1 strabismus phenotype.
• Two Novel CHN1 Mutations in 2 Families With Duane Retraction Syndrome.
• Structural Grading of Foveal Hypoplasia Using Spectral-Domain Optical Coherence Tomography A Predictor of Visual Acuity?
• Recent progress in understanding congenital cranial dysinnervation disorders.
• Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.
• Crystalline cataract caused by a heterozygous missense mutation in ?D-crystallin (CRYGD).
• Allelic diversity in human developmental neurogenetics: insights into biology and disease.
• Evidence of an asymmetrical endophenotype in congenital fibrosis of extraocular muscles type 3 resulting from TUBB3 mutations.
• Human genetic disorders of axon guidance.
• HOXA1 mutations are not a common cause of Möbius syndrome.
• Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.
• CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome.
• Distinct alpha- and beta-tubulin isotypes are required for the positioning, differentiation and survival of neurons: new support for the 'multi-tubulin' hypothesis.
• KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM).
• Synergistic divergence: a distinct ocular motility dysinnervation pattern.
• Clinical features associated with an I126M alpha2-chimaerin mutation in a family with autosomal-dominant Duane retraction syndrome.
• Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.
• Magnetic resonance imaging of the endophenotype of a novel familial Möbius-like syndrome.
• The clinical spectrum of homozygous HOXA1 mutations.
• Congenital fibrosis of the extraocular muscles.
• Magnetic resonance imaging of innervational and extraocular muscle abnormalities in Duane-radial ray syndrome.
• Oculomotility disorders arising from disruptions in brainstem motor neuron development.
• Abnormalities of the oculomotor nerve in congenital fibrosis of the extraocular muscles and congenital oculomotor palsy.
• Genetic basis of congenital strabismus.
• Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus.
• Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane's retraction syndrome linked to the DURS2 locus.
• HOXA1 mutations are not a common cause of Duane anomaly.
• High-resolution magnetic resonance imaging demonstrates abnormalities of motor nerves and extraocular muscles in patients with neuropathic strabismus.
• The genetic basis of complex strabismus.
• Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development.
• A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon.
• Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A.
• Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3).
• Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis.
• Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).
• A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2).
• Acute ataxia in childhood.
• Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.
• Elevation of one eye during tooth brushing.
• Genes, brainstem development, and eye movements.
• Applications of molecular genetics to the understanding of congenital ocular motility disorders.
• The genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of disease.
• A phase II trial of docetaxel and vinorelbine in patients with hormone-refractory prostate cancer.
• Definition, incidence, and clinical description of flare in systemic lupus erythematosus. A prospective cohort study.
• Pre-eruptive varicella cerebellitis confirmed by PCR.
• A genetic approach to congenital extraocular muscle disorders.
• CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX.
• Congenital fibrosis syndromes.
• Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2.
• Congenital fibrosis of the extraocular muscles associated with cortical dysplasia and maldevelopment of the basal ganglia.
• Analysis of human sarcospan as a candidate gene for CFEOM1.
• A clinically variant fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12.
• Evidence of genetic heterogeneity in autosomal recessive congenital fibrosis of the extraocular muscles.
• CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3.
• Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13.
• Mutilating hand syndrome in an infant with familial carpal tunnel syndrome.
• A gene for isolated congenital ptosis maps to a 3-cM region within 1p32-p34.1.
• Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles.
• (CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein.
• Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12.
• Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping ...
• Differential effects of antibiotics inhibiting gyrase.
• DNA gyrase on the bacterial chromosome: possibility of two levels of action.
• Familial unilateral Brown syndrome.
• The molecular basis of the congenital fibrosis syndromes.
• Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus.
• Congenital fibrosis syndrome associated with central nervous system abnormalities.
• Mutations in KIF21A are responsible for CFEOM1 worldwide.
• 110th ENMC International Workshop: the congenital cranial dysinnervation disorders (CCDDs). Naarden, The Netherlands, 25-27 October, 2002.
• A Japanese family with FEOM1-linked congenital fibrosis of the extraocular muscles type 1 associated with spinal canal stenosis and refinement of the FEOM1 critical re...
• Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3.
• Diffusion tensor MRI shows abnormal brainstem crossing fibers associated with ROBO3 mutations.
• Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A.
• Clinical characterization of the HOXA1 syndrome BSAS variant.
• Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1.
• Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata.
• Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.

Schools

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• Johns Hopkins University School Of Medicine

• Children39s Hospital Boston

• Johns Hopkins Pediataric

• Mass Gen Hospital Bos

Doctors Specialties

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• Pediatric Neurology
• Pediatrics
• Neurology

Accepted Insurances

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Awards

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• Investigator

Education

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• Johns Hopkins University School of Medicine

Hospital

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• Boston Children's Hospital

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