RDF/XMLNTriplesTurtleShow queryShare
SubjectPredicateObject
http://purl.uniprot.org/citations/12548371http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/12548371http://www.w3.org/2000/01/rdf-schema#comment"The Parkin gene is responsible for about 50% of autosomal recessive juvenile parkinsonism (ARJP) and less than 20% of sporadic early onset cases. We recently mapped a novel ARJP locus (PARK6) on chromosome 1p. Linkage to PARK6 was confirmed in 8 families from 4 different European countries. These families share some clinical features with the European Parkin-positive cases, with a wide range of ages at onset and slow progression. However, features typical of ARJP, such as dystonia and sleep benefit, were not observed, making the clinical presentation of late-onset cases indistinguishable from that of idiopathic PD. The determination of the smallest region of homozygosity in one consanguineous family allowed reducing the candidate interval to 9 cM. PARK6 appears to be an important locus for ARJP in Europe."xsd:string
http://purl.uniprot.org/citations/12548371http://purl.org/dc/terms/identifier"doi:10.1007/s100720200097"xsd:string
http://purl.uniprot.org/citations/12548371http://purl.uniprot.org/core/author"Brice A."xsd:string
http://purl.uniprot.org/citations/12548371http://purl.uniprot.org/core/author"Durr A."xsd:string
http://purl.uniprot.org/citations/12548371http://purl.uniprot.org/core/author"Oostra B.A."xsd:string
http://purl.uniprot.org/citations/12548371http://purl.uniprot.org/core/author"Wood N.W."xsd:string
http://purl.uniprot.org/citations/12548371http://purl.uniprot.org/core/author"Brancati F."xsd:string
http://purl.uniprot.org/citations/12548371http://purl.uniprot.org/core/author"Valente E.M."xsd:string
http://purl.uniprot.org/citations/12548371http://purl.uniprot.org/core/author"Dallapiccola B."xsd:string
http://purl.uniprot.org/citations/12548371http://purl.uniprot.org/core/author"Caputo V."xsd:string
http://purl.uniprot.org/citations/12548371http://purl.uniprot.org/core/author"De Michele G."xsd:string
http://purl.uniprot.org/citations/12548371http://purl.uniprot.org/core/author"Filla A."xsd:string
http://purl.uniprot.org/citations/12548371http://purl.uniprot.org/core/author"Albanese A."xsd:string
http://purl.uniprot.org/citations/12548371http://purl.uniprot.org/core/author"Bonifati V."xsd:string
http://purl.uniprot.org/citations/12548371http://purl.uniprot.org/core/author"Meco G."xsd:string
http://purl.uniprot.org/citations/12548371http://purl.uniprot.org/core/author"Davis M.B."xsd:string
http://purl.uniprot.org/citations/12548371http://purl.uniprot.org/core/author"Gasser T."xsd:string
http://purl.uniprot.org/citations/12548371http://purl.uniprot.org/core/author"Ferraris A."xsd:string
http://purl.uniprot.org/citations/12548371http://purl.uniprot.org/core/author"Cortelli P."xsd:string
http://purl.uniprot.org/citations/12548371http://purl.uniprot.org/core/author"Bentivoglio A.R."xsd:string
http://purl.uniprot.org/citations/12548371http://purl.uniprot.org/core/author"Breteler M.M."xsd:string
http://purl.uniprot.org/citations/12548371http://purl.uniprot.org/core/author"Graham E.A."xsd:string
http://purl.uniprot.org/citations/12548371http://purl.uniprot.org/core/date"2002"xsd:gYear
http://purl.uniprot.org/citations/12548371http://purl.uniprot.org/core/name"Neurol Sci 23 Suppl"xsd:string