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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2006-1-31
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pubmed:abstractText |
Neurodegeneration with brain iron accumulation (NBIA) is a group of disorders characterized by magnetic resonance imaging (MRI) changes in basal ganglia. Both missense and nonsense mutations have been found in such patients in a gene encoding the mitochondrial pantothenate kinase (PANK2).
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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 |
Feb
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pubmed:issn |
0364-5134
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pubmed:author |
pubmed-author:BotzEvelynE,
pubmed-author:GaravagliaBarbaraB,
pubmed-author:HörtnagelKonstanzeK,
pubmed-author:HartigMonika BMB,
pubmed-author:KlopstockThomasT,
pubmed-author:KmiecTomaszT,
pubmed-author:KosticVladimir SVS,
pubmed-author:MeitingerThomasT,
pubmed-author:NardocciNardoN,
pubmed-author:NovakovicIvanaI,
pubmed-author:ProkischHolgerH,
pubmed-author:RostasyKevinK,
pubmed-author:SchuelkeMarkusM,
pubmed-author:SvetelMarinaM,
pubmed-author:WeindlAdolfA,
pubmed-author:ZorziGiovannaG
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pubmed:issnType |
Print
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pubmed:volume |
59
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
248-56
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:16437574-Adolescent,
pubmed-meshheading:16437574-Adult,
pubmed-meshheading:16437574-Age of Onset,
pubmed-meshheading:16437574-Alleles,
pubmed-meshheading:16437574-Animals,
pubmed-meshheading:16437574-Basal Ganglia,
pubmed-meshheading:16437574-Biological Evolution,
pubmed-meshheading:16437574-Child,
pubmed-meshheading:16437574-Child, Preschool,
pubmed-meshheading:16437574-DNA Mutational Analysis,
pubmed-meshheading:16437574-Family Health,
pubmed-meshheading:16437574-Female,
pubmed-meshheading:16437574-Founder Effect,
pubmed-meshheading:16437574-Genetic Heterogeneity,
pubmed-meshheading:16437574-Humans,
pubmed-meshheading:16437574-Iron,
pubmed-meshheading:16437574-Magnetic Resonance Imaging,
pubmed-meshheading:16437574-Male,
pubmed-meshheading:16437574-Middle Aged,
pubmed-meshheading:16437574-Mutation,
pubmed-meshheading:16437574-Neurodegenerative Diseases,
pubmed-meshheading:16437574-Phenotype,
pubmed-meshheading:16437574-Phosphotransferases (Alcohol Group Acceptor),
pubmed-meshheading:16437574-RNA, Messenger,
pubmed-meshheading:16437574-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:16437574-Sequence Alignment,
pubmed-meshheading:16437574-Statistics as Topic,
pubmed-meshheading:16437574-Time Factors
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pubmed:year |
2006
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pubmed:articleTitle |
Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation.
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pubmed:affiliation |
Institute of Human Genetics, GSF-National Research Center for Environment and Health, Neuherberg, Germany.
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
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