Clinicopathologic report of ocular involvement in ALS patients with C9orf72 mutation

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Volumn 15, Issue 7-8, 2014, Pages 569-580

  Fawzi, Amani A ^a   Simonett, Joseph M ^a   Purta, Patryk ^a   Moss, Heather E ^b   Lowry, Jessica L ^a   Deng, Han Xiang ^a   Siddique, Nailah ^a   Sufit, Robert ^a   Bigio, Eileen H ^a   Volpe, Nicholas J ^a   Siddique, Teepu ^a  

^a NORTHWESTERN UNIVERSITY   (United States)

^b UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

Author keywords

Amyotrophic lateral sclerosis; C9orf72; Midget bipolar cells; Neuropathology; Pathology; Retina; Ubiquitin

Indexed keywords

RECOVERIN; C9ORF72 PROTEIN, HUMAN; DNA BINDING PROTEIN; GLUTAMATE TRANSPORTER; MYELIN BASIC PROTEIN; PROTEIN; SLC1A2 PROTEIN, HUMAN; TDP-43 PROTEIN, HUMAN; UBIQUITIN;

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CASE REPORT; CENTRAL NERVOUS SYSTEM; CHROMOSOME 9; CONTRAST SENSITIVITY; EYE EXAMINATION; HISTOPATHOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; MIDDLE AGED; OPEN READING FRAME; OPHTHALMOLOGY; OPTIC NERVE; PEDIGREE; VISION; VISUAL FIELD DEFECT; VISUAL SYSTEM; COMPLICATION; DNA MUTATIONAL ANALYSIS; FEMALE; GENETICS; MALE; METABOLISM; MUTATION; NEUROLOGIC EXAMINATION; PATHOLOGY; RETINA; VISION DISORDERS; VISUAL SYSTEM EXAMINATION;

AMYOTROPHIC LATERAL SCLEROSIS; DIAGNOSTIC TECHNIQUES, OPHTHALMOLOGICAL; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; GLUTAMATE PLASMA MEMBRANE TRANSPORT PROTEINS; HUMANS; MALE; MIDDLE AGED; MUTATION; MYELIN BASIC PROTEIN; NEUROLOGIC EXAMINATION; PEDIGREE; PROTEINS; RETINA; UBIQUITIN; VISION DISORDERS;

EID: 84914681239     PISSN: 21678421     EISSN: 21679223     Source Type: Journal    
DOI: 10.3109/21678421.2014.951941     Document Type: Article

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