Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7

Brain

Volumn 131, Issue 5, 2008, Pages 1259-1267

  Thomas, Shery ^a   Proudlock, Frank A ^a   Sarvananthan, Nagini ^a,b   Roberts, Eryl O ^a   Awan, Musarat ^a   McLean, Rebecca ^a   Surendran, Mylvaganam ^a   Anil Kumar, A S ^a   Farooq, Shegufta J ^a   Degg, Chris ^b   Gale, Richard P ^c   Reinecke, Robert D ^d   Woodruff, Geoffrey ^a,b   Langmann, Andrea ^e   Lindner, Susanne ^e   Jain, Sunila ^f   Tarpey, Patrick ^g   Raymond, F Lucy ^h   Gottlob, Irene ^a,i  

^a UNIVERSITY OF LEICESTER   (United Kingdom)

^b UNIVERSITY HOSPITALS OF LEICESTER NHS TRUST   (United Kingdom)

^c LEEDS GENERAL INFIRMARY   (United Kingdom)

^d WILLS EYE HOSPITAL   (United States)

^e MEDICAL UNIVERSITY OF GRAZ   (Austria)

^f ROYAL PRESTON HOSPITAL   (United Kingdom)

^g WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^h ADDENBROOKE S HOSPITAL   (United Kingdom)

ⁱ UNIVERSITY OF LEICESTER   (United Kingdom)

Author keywords

Clinical characteristics; Eye movements; FRMD7; Obligate carrier; X linked idiopathic infantile nystagmus

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; COLOR VISION; CONGENITAL NYSTAGMUS; EYE MOVEMENT; FEMALE; FRMD7 GENE; GENE; GENE MUTATION; HUMAN; IDIOPATHIC DISEASE; IDIOPATHIC INFANTILE NYSTAGMUS; MALE; OPTOKINETIC NYSTAGMUS; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; STEREOSCOPIC VISION; STRABISMUS; VISUAL ACUITY; BODY POSTURE; CLINICAL TRIAL; DEPTH PERCEPTION; EYE DISEASE; GENETICS; HEAD; HETEROZYGOTE; MIDDLE AGED; MULTICENTER STUDY; MUTATION; NYSTAGMUS; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; PRESCHOOL CHILD; PSYCHOLOGICAL ASPECT; X CHROMOSOME; X CHROMOSOME LINKED DISORDER;

CYTOSKELETON PROTEIN; FRMD7 PROTEIN, HUMAN; MEMBRANE PROTEIN;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; COLOR PERCEPTION; CYTOSKELETAL PROTEINS; DEPTH PERCEPTION; EYE DISEASES, HEREDITARY; FEMALE; GENETIC DISEASES, X-LINKED; HEAD; HETEROZYGOTE; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; NYSTAGMUS, CONGENITAL; NYSTAGMUS, PATHOLOGIC; PEDIGREE; POSTURE; STRABISMUS; VISUAL ACUITY;

EID: 44949179539     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awn046     Document Type: Article

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