Giant axonal neuropathy: An updated perspective on its pathology and pathogenesis

Muscle and Nerve

Volumn 50, Issue 4, 2014, Pages 467-476

  Johnson Kerner, Bethany L ^a   Roth, Lisa ^a   Greene, J Palmer ^a   Wichterle, Hynek ^a   Sproule, Douglas M ^b  

^a Department of Neurology and the Taub Institute for Research on Alzheimer's Disease and the Aging Brain   (United States)

^b New York Presbyterian Morgan Stanley Children's Hospital   (United States)

Author keywords

Giant axonal neuropathy; Gigaxonin; Intermediate filaments; Neurodegeneration; Sensorimotor neuropathy

Indexed keywords

BENZYLOXYCARBONYLLEUCYLLEUCYLLEUCINAL; GIGAXONIN; HISTONE DEACETYLASE 6 INHIBITOR; HISTONE DEACETYLASE INHIBITOR; PERIPHERIN; UBIQUITIN PROTEIN LIGASE E3; UNCLASSIFIED DRUG; VIMENTIN; CYTOSKELETON PROTEIN; GAN PROTEIN, HUMAN;

ARTICLE; BLOOD CHEMISTRY; CENTRAL NERVOUS SYSTEM DISEASE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DIAGNOSTIC TEST; DIFFERENTIAL DIAGNOSIS; DISORIENTATION; ELECTRONYSTAGMOGRAPHY; FRIEDREICH ATAXIA; GENE OVEREXPRESSION; GENE REPLACEMENT THERAPY; GENE THERAPY; GENETIC ANALYSIS; GIANT AXONAL NEUROPATHY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INHERITANCE; NERVE CONDUCTION; NERVE DEGENERATION; NEUROFILAMENT; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PATHOPHYSIOLOGY; PERIPHERAL NERVOUS SYSTEM; PHENOTYPE; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN DEGRADATION; PROTEIN FUNCTION; SYMPTOM; ANIMAL; DISEASE COURSE; GENETICS; INTERMEDIATE FILAMENT; METABOLISM; MUTATION; PATHOLOGY;

ANIMALS; CYTOSKELETAL PROTEINS; DISEASE PROGRESSION; GIANT AXONAL NEUROPATHY; HUMANS; INTERMEDIATE FILAMENTS; MUTATION;

EID: 84922480570     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.24321     Document Type: Article

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