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

Brain

Volumn 129, Issue 9, 2006, Pages 2363-2374

  Bosley, Thomas M ^a,e   Oystreck, Darren T ^a   Robertson, Richard L ^c   Al Awad, Abdulaziz ^a   Abu Amero, Khaled ^b   Engle, Elizabeth C ^c,d  

^a KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^b KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d HARVARD MEDICAL SCHOOL   (United States)

^e Department of Anesthesiology   (United States)

Author keywords

Brain development; Brain imaging; Congenital ophthalmoplegia; Ocular motor nerve

Indexed keywords

HOMEODOMAIN PROTEIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR PHOX2A; UNCLASSIFIED DRUG; EYE PROTEIN; PHOX2A PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BINOCULAR CONVERGENCE; BRAIN STEM; CLINICAL FEATURE; CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLE TYPE 2; DISEASE SEVERITY; DIVERGENT STRABISMUS; EYE MOVEMENT; FEMALE; FIBROSIS; GENE; GENE MUTATION; GENETIC VARIABILITY; HUMAN; IRIS; LIGHT; MALE; MYOPATHY; NEUROIMAGING; NEUROMUSCULAR DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; OCULOMOTOR NERVE; OPTOKINETIC STIMULATION; PHENOTYPE; PHOX2A GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; PUPIL REFLEX; SACCADIC EYE MOVEMENT; SCHOOL CHILD; SMOOTH PURSUIT EYE MOVEMENT; TROCHLEAR NERVE; VESTIBULOOCULAR REFLEX; CHILD; EXTRAOCULAR MUSCLE; EYELID; GENETICS; MUTATION; OPHTHALMOPLEGIA; PATHOLOGY; PHYSIOLOGY; PUPIL; STRABISMUS; SYNDROME; VISUAL ACUITY;

ADOLESCENT; ADULT; BLEPHAROPTOSIS; CHILD; CHILD, PRESCHOOL; CONVERGENCE, OCULAR; EXOTROPIA; EYE MOVEMENTS; EYE PROTEINS; EYELIDS; FEMALE; FIBROSIS; HOMEODOMAIN PROTEINS; HUMANS; MALE; MUTATION; OCULOMOTOR MUSCLES; OCULOMOTOR NERVE; OPHTHALMOPLEGIA; PUPIL; PURSUIT, SMOOTH; REFLEX, PUPILLARY; STRABISMUS; SYNDROME; VISUAL ACUITY;

EID: 33749264604     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awl161     Document Type: Article

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