Hereditary ferritinopathy: A novel mutation, its cellular pathology, and pathogenetic insights

Journal of Neuropathology and Experimental Neurology

Volumn 64, Issue 4, 2005, Pages 280-294

  Mancuso, Michelangelo ^a   Davidzon, Guido ^a   Kurlan, Roger M ^b   Tawil, Rabi ^b   Bonilla, Eduardo ^a   Di Mauro, Salvatore ^a   Powers, James M ^b,c  

^a Columbia Coll of Phys and Surgs ^*  (United States)

^b UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^c UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

Author keywords

Basal ganglia; Ferritin; Iron; Mitochondria; Oxidative stress; Putaminal necrosis

Indexed keywords

FERRITIN;

ADULT; AMINO ACID SEQUENCE; APOPTOSIS; AREFLEXIA; ARTICLE; ATAXIA; BRAIN NECROSIS; CASE REPORT; CELL NUCLEUS; CELL STRUCTURE; CELL VACUOLE; CEREBELLUM; CLINICAL FEATURE; COGNITIVE DEFECT; CONFORMATIONAL TRANSITION; CONSTIPATION; DEATH; DEPRESSION; DYSARTHRIA; DYSPHAGIA; EXON; GAIT DISORDER; GENE INSERTION; GENE MUTATION; GENETIC DISORDER; GLIA; HEREDITARY FERRITINOPATHY; HOMEOSTASIS; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; IMPOTENCE; INCONTINENCE; INVOLUNTARY MOVEMENT; IRON METABOLISM; LIGHT CHAIN; LIPID PEROXIDATION; MALE; MENTAL INSTABILITY; NERVE CELL; NEUROLOGIC DISEASE; NITRATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OXIDATIVE STRESS; PATHOGENESIS; POSITIONAL VERTIGO; PRIORITY JOURNAL; PSYCHOSIS; PUTAMEN; RESPIRATORY CHAIN; SYMPTOM;

EID: 16844363930     PISSN: 00223069     EISSN: None     Source Type: Journal    
DOI: 10.1093/jnen/64.4.280     Document Type: Article

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