Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2008-4-24
pubmed:abstractText
Senataxin (chromosome 9q34) was recently identified as the causative gene for an autosomal recessive form of Ataxia (ARCA), termed as Ataxia with Oculomotor Apraxia, type 2 (AOA2) and characterized by generalized incoordination, cerebellar atrophy, peripheral neuropathy, "oculomotor apraxia" and increased alpha-fetoprotein (AFP). Here, we report a novel Senataxin mutation in a Cypriot ARCA family.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/18405395-11022012, http://linkedlifedata.com/resource/pubmed/commentcorrection/18405395-11175288, http://linkedlifedata.com/resource/pubmed/commentcorrection/18405395-14736755, http://linkedlifedata.com/resource/pubmed/commentcorrection/18405395-14770181, http://linkedlifedata.com/resource/pubmed/commentcorrection/18405395-15106121, http://linkedlifedata.com/resource/pubmed/commentcorrection/18405395-15732101, http://linkedlifedata.com/resource/pubmed/commentcorrection/18405395-16636238, http://linkedlifedata.com/resource/pubmed/commentcorrection/18405395-16644229, http://linkedlifedata.com/resource/pubmed/commentcorrection/18405395-16717225, http://linkedlifedata.com/resource/pubmed/commentcorrection/18405395-17096168, http://linkedlifedata.com/resource/pubmed/commentcorrection/18405395-17159128, http://linkedlifedata.com/resource/pubmed/commentcorrection/18405395-17562789, http://linkedlifedata.com/resource/pubmed/commentcorrection/18405395-2894517, http://linkedlifedata.com/resource/pubmed/commentcorrection/18405395-3859205, http://linkedlifedata.com/resource/pubmed/commentcorrection/18405395-6133167, http://linkedlifedata.com/resource/pubmed/commentcorrection/18405395-8541851, http://linkedlifedata.com/resource/pubmed/commentcorrection/18405395-8751856
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1471-2350
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
9
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
28
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia.
pubmed:affiliation
The Cyprus Institute of Neurology and Genetics, 6 International Airport Avenue, Nicosia, Cyprus. paschali@cing.ac.cy
pubmed:publicationType
Journal Article, Case Reports