DESCRIBE <http://purl.uniprot.org/citations/18439221>

Subject	Predicate	Object
http://purl.uniprot.org/citations/18439221	http://www.w3.org/1999/02/22-rdf-syntax-ns#type	http://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/18439221	http://www.w3.org/2000/01/rdf-schema#comment	" Background Hereditary spastic paraplegias (HSP) are neurodegenerative diseases mainly characterized by lower limb spasticity with additional neurological symptoms and signs in complicated forms. Among the many autosomal recessive forms, SPG11 appears to be one of the most frequent. Objective Our objective was to select potential SPG11 patients based on phenotypes in our material, identify eventual disease-causing variants with the collaboration of laboratories abroad, estimate the frequency and spectrum of SPG11-mutations and describe their associated phenotypes. Material and methods Two isolated cases and two affected members of one family with cognitive impairment and confirmed thin corpus callosum on magnetic resonance imaging were selected from our database for inclusion into a multicenter study. Results - Mutations were found in the two isolated cases but not in the proband of the family. Conclusion We present the first SPG11-HSP in the Norwegian population. SPG11 should be suspected in patients with isolated or recessive HSP, thin corpus callosum and mental retardation."xsd:string
http://purl.uniprot.org/citations/18439221	http://purl.org/dc/terms/identifier	"doi:10.1111/j.1600-0404.2008.01031.x"xsd:string
http://purl.uniprot.org/citations/18439221	http://purl.uniprot.org/core/author	"Brice A."xsd:string
http://purl.uniprot.org/citations/18439221	http://purl.uniprot.org/core/author	"Stevanin G."xsd:string
http://purl.uniprot.org/citations/18439221	http://purl.uniprot.org/core/author	"Erichsen A.K."xsd:string
http://purl.uniprot.org/citations/18439221	http://purl.uniprot.org/core/author	"Tallaksen C.M."xsd:string
http://purl.uniprot.org/citations/18439221	http://purl.uniprot.org/core/author	"Denora P."xsd:string
http://purl.uniprot.org/citations/18439221	http://purl.uniprot.org/core/date	"2008"xsd:gYear
http://purl.uniprot.org/citations/18439221	http://purl.uniprot.org/core/name	"Acta Neurol Scand Suppl"xsd:string
http://purl.uniprot.org/citations/18439221	http://purl.uniprot.org/core/pages	"46-50"xsd:string
http://purl.uniprot.org/citations/18439221	http://purl.uniprot.org/core/title	"SPG11--the most common type of recessive spastic paraplegia in Norway?"xsd:string
http://purl.uniprot.org/citations/18439221	http://purl.uniprot.org/core/volume	"188"xsd:string
http://purl.uniprot.org/citations/18439221	http://www.w3.org/2004/02/skos/core#exactMatch	http://purl.uniprot.org/pubmed/18439221
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http://purl.uniprot.org/uniprot/#_A0A804HKV6-mappedCitation-18439221	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/18439221
http://purl.uniprot.org/uniprot/#_C4B7M2-mappedCitation-18439221	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/18439221
http://purl.uniprot.org/uniprot/#_C4B7M3-mappedCitation-18439221	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/18439221
http://purl.uniprot.org/uniprot/#_C4B7M4-mappedCitation-18439221	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/18439221
http://purl.uniprot.org/uniprot/#_Q96JI7-mappedCitation-18439221	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/18439221
http://purl.uniprot.org/uniprot/#_Q8N9K0-mappedCitation-18439221	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/18439221
http://purl.uniprot.org/uniprot/Q96JI7	http://purl.uniprot.org/core/mappedCitation	http://purl.uniprot.org/citations/18439221
http://purl.uniprot.org/uniprot/C4B7M2	http://purl.uniprot.org/core/mappedCitation	http://purl.uniprot.org/citations/18439221
http://purl.uniprot.org/uniprot/Q8N9K0	http://purl.uniprot.org/core/mappedCitation	http://purl.uniprot.org/citations/18439221
http://purl.uniprot.org/uniprot/C4B7M3	http://purl.uniprot.org/core/mappedCitation	http://purl.uniprot.org/citations/18439221