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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
2010-10-29
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pubmed:abstractText |
Neurodegeneration with brain iron accumulation (NBIA) represents a distinctive phenotype of neurodegenerative disease for which several causative genes have been identified. The spectrum of neurologic disease associated with mutations in NBIA genes is broad, with phenotypes that range from infantile neurodegeneration and death in childhood to adult-onset parkinsonism-dystonia. Here we report the discovery of a novel gene that leads to a distinct form of NBIA.
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pubmed:grant |
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
1531-8249
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pubmed:author |
pubmed-author:AllisonGregoryG,
pubmed-author:BoddaertNathalieN,
pubmed-author:EdvardsonSimonS,
pubmed-author:GobinStephanieS,
pubmed-author:HamaHirokoH,
pubmed-author:HardyJohnJ,
pubmed-author:HayflickSusan JSJ,
pubmed-author:HouldenHenryH,
pubmed-author:KruerMichael CMC,
pubmed-author:MalandriniAlessandroA,
pubmed-author:MunnichArnoldA,
pubmed-author:Paisán-RuizCoroC,
pubmed-author:PalmeriSilviaS,
pubmed-author:PolsterBrenda JBJ,
pubmed-author:WoltjerRandall LRL,
pubmed-author:YoonMoon YMY
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pubmed:issnType |
Electronic
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pubmed:volume |
68
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
611-8
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pubmed:meshHeading |
pubmed-meshheading:20853438-Adolescent,
pubmed-meshheading:20853438-Adult,
pubmed-meshheading:20853438-Brain,
pubmed-meshheading:20853438-Child,
pubmed-meshheading:20853438-Chromosome Mapping,
pubmed-meshheading:20853438-Diagnostic Imaging,
pubmed-meshheading:20853438-Female,
pubmed-meshheading:20853438-Heredodegenerative Disorders, Nervous System,
pubmed-meshheading:20853438-Humans,
pubmed-meshheading:20853438-Iron,
pubmed-meshheading:20853438-Male,
pubmed-meshheading:20853438-Mixed Function Oxygenases,
pubmed-meshheading:20853438-Mutation,
pubmed-meshheading:20853438-Pedigree
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pubmed:year |
2010
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pubmed:articleTitle |
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).
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pubmed:affiliation |
Division of Developmental Pediatrics, Child Development and Rehabilitation Center, Oregon Health & Science University, Portland, OR 97239, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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