http://purl.uniprot.org/citations/11341481 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/11341481 | http://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/11341481 | http://purl.org/dc/terms/identifier | "doi:10.1007/s007020170075"xsd:string |
http://purl.uniprot.org/citations/11341481 | http://purl.uniprot.org/core/author | "Martinelli P."xsd:string |
http://purl.uniprot.org/citations/11341481 | http://purl.uniprot.org/core/author | "Abbruzzese G."xsd:string |
http://purl.uniprot.org/citations/11341481 | http://purl.uniprot.org/core/author | "Barone P."xsd:string |
http://purl.uniprot.org/citations/11341481 | http://purl.uniprot.org/core/author | "Vitale C."xsd:string |
http://purl.uniprot.org/citations/11341481 | http://purl.uniprot.org/core/author | "Di Maria E."xsd:string |
http://purl.uniprot.org/citations/11341481 | http://purl.uniprot.org/core/author | "Ajmar F."xsd:string |
http://purl.uniprot.org/citations/11341481 | http://purl.uniprot.org/core/author | "Bellone E."xsd:string |
http://purl.uniprot.org/citations/11341481 | http://purl.uniprot.org/core/author | "Mandich P."xsd:string |
http://purl.uniprot.org/citations/11341481 | http://purl.uniprot.org/core/author | "Marchese R."xsd:string |
http://purl.uniprot.org/citations/11341481 | http://purl.uniprot.org/core/author | "Scaglione C."xsd:string |
http://purl.uniprot.org/citations/11341481 | http://purl.uniprot.org/core/author | "Pigullo S."xsd:string |
http://purl.uniprot.org/citations/11341481 | http://purl.uniprot.org/core/author | "Bonuccelli U."xsd:string |
http://purl.uniprot.org/citations/11341481 | http://purl.uniprot.org/core/author | "Assini A."xsd:string |
http://purl.uniprot.org/citations/11341481 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
http://purl.uniprot.org/citations/11341481 | http://purl.uniprot.org/core/name | "J Neural Transm (Vienna)"xsd:string |
http://purl.uniprot.org/citations/11341481 | http://purl.uniprot.org/core/pages | "297-304"xsd:string |
http://purl.uniprot.org/citations/11341481 | http://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/11341481 | http://purl.uniprot.org/core/volume | "108"xsd:string |
http://purl.uniprot.org/citations/11341481 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/11341481 |
http://purl.uniprot.org/citations/11341481 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/11341481 |
http://purl.uniprot.org/uniprot/#_E9PCM4-mappedCitation-11341481 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/11341481 |
http://purl.uniprot.org/uniprot/#_A1A4V4-mappedCitation-11341481 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/11341481 |