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http://purl.uniprot.org/citations/11341481http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/11341481http://www.w3.org/2000/01/rdf-schema#comment"Essential tremor (ET) is one of the most common movement disorders. However the pathogenesis is as yet unknown, although a genetic cause has long been recognised. Clinical and molecular evidences suggested that the ET gene might contain a CAG expanded region. In a cohort of Italian ET patients Repeat Expansion Detection (RED) approach did not demonstrate large CAG expansions. We extended the study towards specific targets: the channel proteins hSKCa3 and CACNL1A4. Direct assessment of CAG stretches within these two genes did not demonstrate any CAG expansion in affected subjects. Also a case-control analysis failed to reveal any evidence of association, thus excluding these genes as a cause of ET."xsd:string
http://purl.uniprot.org/citations/11341481http://purl.org/dc/terms/identifier"doi:10.1007/s007020170075"xsd:string
http://purl.uniprot.org/citations/11341481http://purl.uniprot.org/core/author"Martinelli P."xsd:string
http://purl.uniprot.org/citations/11341481http://purl.uniprot.org/core/author"Abbruzzese G."xsd:string
http://purl.uniprot.org/citations/11341481http://purl.uniprot.org/core/author"Barone P."xsd:string
http://purl.uniprot.org/citations/11341481http://purl.uniprot.org/core/author"Vitale C."xsd:string
http://purl.uniprot.org/citations/11341481http://purl.uniprot.org/core/author"Di Maria E."xsd:string
http://purl.uniprot.org/citations/11341481http://purl.uniprot.org/core/author"Ajmar F."xsd:string
http://purl.uniprot.org/citations/11341481http://purl.uniprot.org/core/author"Bellone E."xsd:string
http://purl.uniprot.org/citations/11341481http://purl.uniprot.org/core/author"Mandich P."xsd:string
http://purl.uniprot.org/citations/11341481http://purl.uniprot.org/core/author"Marchese R."xsd:string
http://purl.uniprot.org/citations/11341481http://purl.uniprot.org/core/author"Scaglione C."xsd:string
http://purl.uniprot.org/citations/11341481http://purl.uniprot.org/core/author"Pigullo S."xsd:string
http://purl.uniprot.org/citations/11341481http://purl.uniprot.org/core/author"Bonuccelli U."xsd:string
http://purl.uniprot.org/citations/11341481http://purl.uniprot.org/core/author"Assini A."xsd:string
http://purl.uniprot.org/citations/11341481http://purl.uniprot.org/core/date"2001"xsd:gYear
http://purl.uniprot.org/citations/11341481http://purl.uniprot.org/core/name"J Neural Transm (Vienna)"xsd:string
http://purl.uniprot.org/citations/11341481http://purl.uniprot.org/core/pages"297-304"xsd:string
http://purl.uniprot.org/citations/11341481http://purl.uniprot.org/core/title"No evidence of association between CAG expansions and essential tremor in a large cohort of Italian patients."xsd:string
http://purl.uniprot.org/citations/11341481http://purl.uniprot.org/core/volume"108"xsd:string
http://purl.uniprot.org/citations/11341481http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/11341481
http://purl.uniprot.org/citations/11341481http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/11341481
http://purl.uniprot.org/uniprot/#_E9PCM4-mappedCitation-11341481http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/11341481
http://purl.uniprot.org/uniprot/#_A1A4V4-mappedCitation-11341481http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/11341481