C19orf12 and FA2H Mutations Are Rare in Italian Patients With Neurodegeneration With Brain Iron Accumulation

Seminars in Pediatric Neurology

Volumn 19, Issue 2, 2012, Pages 75-81

  Panteghini, Celeste ^a   Zorzi, Giovanna ^a   Venco, Paola ^a   Dusi, Sabrina ^a   Reale, Chiara ^a   Brunetti, Dario ^a   Chiapparini, Luisa ^a   Zibordi, Federica ^a   Siegel, Brigitte ^b   Garavaglia, Barbara ^a   Simonati, Alessandro ^c   Bertini, Enrico ^d   Nardocci, Nardo ^a   Tiranti, Valeria ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b INSTITUTE OF EPIDEMIOLOGY   (Germany)

^c UNIVERSITY OF VERONA   (Italy)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

FATTY ACID HYDROXYLASE; IRON; MITOCHONDRIAL PROTEIN; OXYGENASE; PANTOTHENATE KINASE 2; PROTEIN C19ORF12; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ATAXIA; BRAIN ATROPHY; C19ORF12 GENE; CLINICAL ARTICLE; COGNITIVE DEFECT; COHORT ANALYSIS; DYSPHAGIA; DYSPHONIA; EVOKED VISUAL RESPONSE; FA2H GENE; FEMALE; FOLLOW UP; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HETEROZYGOTE; HUMAN; HUMAN TISSUE; IN VITRO STUDY; ITALY; MALE; MOLECULAR GENETICS; MOLECULAR PATHOLOGY; MOOD DISORDER; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OBSESSIVE COMPULSIVE DISORDER; OPTIC NERVE ATROPHY; PANK2 GENE; PLA2G6 GENE; REVIEW; SPASTICITY; VISUAL DISORDER; WALKING DIFFICULTY; WESTERN BLOTTING;

ADOLESCENT; ADULT; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; IRON METABOLISM DISORDERS; ITALY; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MITOCHONDRIAL PROTEINS; MIXED FUNCTION OXYGENASES; MUTATION; NEUROAXONAL DYSTROPHIES; SKIN; YOUNG ADULT;

EID: 84862311702     PISSN: 10719091     EISSN: 15580776     Source Type: Journal    
DOI: 10.1016/j.spen.2012.03.006     Document Type: Review

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