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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2011-3-17
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pubmed:abstractText |
Friedreich's ataxia (FRDA) is the most common hereditary ataxia among caucasians. The molecular defect in FRDA is the trinucleotide GAA expansion in the first intron of the FXN gene, which encodes frataxin. No studies have yet reported frataxin protein and mRNA levels in a large cohort of FRDA patients, carriers and controls.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/21412413-10668723,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21412413-11104216,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21412413-11972351,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21412413-15096564,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21412413-15201375,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21412413-15247478,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21412413-15509595,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21412413-16344344,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21412413-17703324,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21412413-18485778,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21412413-19748629,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21412413-20103114,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21412413-7272714,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21412413-8596916,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21412413-9153531,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21412413-9302253,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21412413-9409356,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21412413-9989622
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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:issn |
1932-6203
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pubmed:author |
pubmed-author:AntenoraAntonellaA,
pubmed-author:Brescia MorraVincenzoV,
pubmed-author:CocozzaSergioS,
pubmed-author:De MicheleGiuseppeG,
pubmed-author:DenaroAlessandraA,
pubmed-author:FillaAlessandroA,
pubmed-author:MarsiliAngelaA,
pubmed-author:PaneChiaraC,
pubmed-author:PiroRaffaeleR,
pubmed-author:PuorroGiorgiaG,
pubmed-author:SaccàFrancescoF,
pubmed-author:SantorelliFilippo MFM,
pubmed-author:SorrentinoPierpaoloP,
pubmed-author:TessaAlessandraA
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pubmed:issnType |
Electronic
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pubmed:volume |
6
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
e17627
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pubmed:dateRevised |
2011-7-26
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pubmed:meshHeading |
pubmed-meshheading:21412413-Adult,
pubmed-meshheading:21412413-Clinical Trials as Topic,
pubmed-meshheading:21412413-Demography,
pubmed-meshheading:21412413-Friedreich Ataxia,
pubmed-meshheading:21412413-Gene Expression Regulation,
pubmed-meshheading:21412413-Genotype,
pubmed-meshheading:21412413-Heterozygote,
pubmed-meshheading:21412413-Humans,
pubmed-meshheading:21412413-Iron-Binding Proteins,
pubmed-meshheading:21412413-Leukocytes, Mononuclear,
pubmed-meshheading:21412413-Middle Aged,
pubmed-meshheading:21412413-Normal Distribution,
pubmed-meshheading:21412413-Point Mutation,
pubmed-meshheading:21412413-RNA, Messenger,
pubmed-meshheading:21412413-Reverse Transcriptase Polymerase Chain Reaction
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pubmed:year |
2011
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pubmed:articleTitle |
A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design.
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pubmed:affiliation |
Department of Neurological Sciences, University Federico II, Naples, Italy. francesco.sacca@unina.it
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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