DESCRIBE <http://purl.uniprot.org/citations/23566282>

Subject	Predicate	Object
http://purl.uniprot.org/citations/23566282	http://www.w3.org/1999/02/22-rdf-syntax-ns#type	http://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/23566282	http://www.w3.org/1999/02/22-rdf-syntax-ns#type	http://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/23566282	http://www.w3.org/2000/01/rdf-schema#comment	" Objective In this paper, we document two cases of a new SETX mutation (820:A>G) combined with an established recessive SETX mutation (5927:T>G) causing ataxia with oculomotor apraxia type 2 (AOA2). Methods The patients had a detailed neurological history and examination performed. Radiological imaging was obtained and genetic analysis was obtained. Results Both siblings demonstrated healthy and normal growth until adolescence. At that time, slowed speech, hypophonia, dysarthria, extraocular muscle dysfunction and some mild choreiform movements began to appear. Family history included some movement disorder difficulties in second degree relatives. The diagnosis of AOA2 was confirmed by genetic testing. Conclusions We describe a new SETX gene mutation, which when combined with a recognized SETX mutation results in AOA2. The clinical, radiographic and ancillary testing are described."xsd:string
http://purl.uniprot.org/citations/23566282	http://purl.org/dc/terms/identifier	"doi:10.3109/00207454.2013.787616"xsd:string
http://purl.uniprot.org/citations/23566282	http://purl.org/dc/terms/identifier	"doi:10.3109/00207454.2013.787616"xsd:string
http://purl.uniprot.org/citations/23566282	http://purl.uniprot.org/core/author	"Datta N."xsd:string
http://purl.uniprot.org/citations/23566282	http://purl.uniprot.org/core/author	"Datta N."xsd:string
http://purl.uniprot.org/citations/23566282	http://purl.uniprot.org/core/author	"Hohler A."xsd:string
http://purl.uniprot.org/citations/23566282	http://purl.uniprot.org/core/author	"Hohler A."xsd:string
http://purl.uniprot.org/citations/23566282	http://purl.uniprot.org/core/date	"2013"xsd:gYear
http://purl.uniprot.org/citations/23566282	http://purl.uniprot.org/core/date	"2013"xsd:gYear
http://purl.uniprot.org/citations/23566282	http://purl.uniprot.org/core/name	"Int. J. Neurosci."xsd:string
http://purl.uniprot.org/citations/23566282	http://purl.uniprot.org/core/name	"Int. J. Neurosci."xsd:string
http://purl.uniprot.org/citations/23566282	http://purl.uniprot.org/core/pages	"670-673"xsd:string
http://purl.uniprot.org/citations/23566282	http://purl.uniprot.org/core/pages	"670-673"xsd:string
http://purl.uniprot.org/citations/23566282	http://purl.uniprot.org/core/title	"A new SETX mutation producing AOA2 in two siblings."xsd:string
http://purl.uniprot.org/citations/23566282	http://purl.uniprot.org/core/title	"A new SETX mutation producing AOA2 in two siblings."xsd:string
http://purl.uniprot.org/citations/23566282	http://purl.uniprot.org/core/volume	"123"xsd:string
http://purl.uniprot.org/citations/23566282	http://purl.uniprot.org/core/volume	"123"xsd:string
http://purl.uniprot.org/citations/23566282	http://www.w3.org/2004/02/skos/core#exactMatch	http://purl.uniprot.org/pubmed/23566282
http://purl.uniprot.org/citations/23566282	http://www.w3.org/2004/02/skos/core#exactMatch	http://purl.uniprot.org/pubmed/23566282
http://purl.uniprot.org/citations/23566282	http://xmlns.com/foaf/0.1/primaryTopicOf	https://pubmed.ncbi.nlm.nih.gov/23566282
http://purl.uniprot.org/citations/23566282	http://xmlns.com/foaf/0.1/primaryTopicOf	https://pubmed.ncbi.nlm.nih.gov/23566282
http://purl.uniprot.org/uniprot/Q7Z333	http://purl.uniprot.org/core/citation	http://purl.uniprot.org/citations/23566282
http://purl.uniprot.org/uniprot/Q7Z333#attribution-010C7559B800E9EF31938ED8A68F682F	http://purl.uniprot.org/core/source	http://purl.uniprot.org/citations/23566282