<> <http://www.w3.org/2000/01/rdf-schema#comment> "The repository administrator has not yet configured an RDF license."^^<http://www.w3.org/2001/XMLSchema#string> . <> <http://xmlns.com/foaf/0.1/primaryTopic> <https://discovery.ucl.ac.uk/id/eprint/10112259> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://purl.org/ontology/bibo/AcademicArticle> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://purl.org/ontology/bibo/Article> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://purl.org/dc/terms/title> "Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients With Movement Disorders"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://purl.org/ontology/bibo/abstract> "Background:\r\nThe objective of this study was to determine the prevalence of the GGCâ€repeat expansion in NOTCH2NLC in whites presenting with movement disorders.\r\n/\r\nMethods:\r\nWe searched for the GGCâ€repeat expansion in NOTCH2NLC using repeatâ€primed polymerase chain reaction in 203 patients with essential tremor, 825 patients with PD, 194 patients with spinocerebellar ataxia, 207 patients with “possible†or “probable†MSA, and 336 patients with pathologically confirmed MSA. We also screened 30,008 patients enrolled in the 100,000 Genomes Project for the same mutation using ExpansionHunter, followed by repeatâ€primed polymerase chain reaction. All possible expansions were confirmed by Southern blotting and/or longâ€read sequencing.\r\n/\r\nResults:\r\nWe identified 1 patient who carried the NOTCH2NLC mutation in the essential tremor cohort, and 1 patient presenting with recurrent encephalopathy and postural tremor/parkinsonism in the 100,000 Genomes Project.\r\n/\r\nConclusions:\r\nGGCâ€repeat expansion in NOTCH2NLC is rare in whites presenting with movement disorders. In addition, existing wholeâ€genome sequencing data are useful in case ascertainment."^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://purl.org/dc/terms/date> "2020-10-07" . <https://discovery.ucl.ac.uk/id/document/1193009> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://purl.org/ontology/bibo/Document> . <https://discovery.ucl.ac.uk/id/publication/ext-f58addc8fa88ff35094c5ee4491762d3> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://purl.org/ontology/bibo/Collection> . <https://discovery.ucl.ac.uk/id/publication/ext-f58addc8fa88ff35094c5ee4491762d3> <http://xmlns.com/foaf/0.1/name> "Movement Disorders"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://purl.org/dc/terms/isPartOf> <https://discovery.ucl.ac.uk/id/publication/ext-f58addc8fa88ff35094c5ee4491762d3> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://purl.org/ontology/bibo/status> <http://purl.org/ontology/bibo/status/forthcoming> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-a21d889d47f663300123616a59d489cd> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10112259#authors> . <https://discovery.ucl.ac.uk/id/eprint/10112259#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_1> <https://discovery.ucl.ac.uk/id/person/ext-a21d889d47f663300123616a59d489cd> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-2cd56e56bccbc25771e18bff1f34ee6c> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10112259#authors> . <https://discovery.ucl.ac.uk/id/eprint/10112259#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_2> <https://discovery.ucl.ac.uk/id/person/ext-2cd56e56bccbc25771e18bff1f34ee6c> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-1c666e2aaac5941518c7fd13e2a84844> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10112259#authors> . <https://discovery.ucl.ac.uk/id/eprint/10112259#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_3> <https://discovery.ucl.ac.uk/id/person/ext-1c666e2aaac5941518c7fd13e2a84844> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-d93402a93c99c85dd4e48df161a207e0> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10112259#authors> . <https://discovery.ucl.ac.uk/id/eprint/10112259#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_4> <https://discovery.ucl.ac.uk/id/person/ext-d93402a93c99c85dd4e48df161a207e0> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-4e28b0c6bc6849faa7d5a2a90ea26374> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10112259#authors> . <https://discovery.ucl.ac.uk/id/eprint/10112259#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_5> <https://discovery.ucl.ac.uk/id/person/ext-4e28b0c6bc6849faa7d5a2a90ea26374> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-105c5012f10c20cfe99f878900145a77> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10112259#authors> . <https://discovery.ucl.ac.uk/id/eprint/10112259#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_6> <https://discovery.ucl.ac.uk/id/person/ext-105c5012f10c20cfe99f878900145a77> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-772aff272164a8ce320e8cdf6c45e9d6> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10112259#authors> . <https://discovery.ucl.ac.uk/id/eprint/10112259#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_7> <https://discovery.ucl.ac.uk/id/person/ext-772aff272164a8ce320e8cdf6c45e9d6> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-6aa8c4c6eacdcaa120c88b7abe686528> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10112259#authors> . <https://discovery.ucl.ac.uk/id/eprint/10112259#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_8> <https://discovery.ucl.ac.uk/id/person/ext-6aa8c4c6eacdcaa120c88b7abe686528> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-2926283d0095b19e1e0cb2ab22bf4068> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10112259#authors> . <https://discovery.ucl.ac.uk/id/eprint/10112259#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_9> <https://discovery.ucl.ac.uk/id/person/ext-2926283d0095b19e1e0cb2ab22bf4068> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-923b692edbdfbb0aaa7362c95bfe615f> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10112259#authors> . <https://discovery.ucl.ac.uk/id/eprint/10112259#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_10> <https://discovery.ucl.ac.uk/id/person/ext-923b692edbdfbb0aaa7362c95bfe615f> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-295b07df54dd7480926da827fadec171> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10112259#authors> . <https://discovery.ucl.ac.uk/id/eprint/10112259#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_11> <https://discovery.ucl.ac.uk/id/person/ext-295b07df54dd7480926da827fadec171> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-c67126fca2078a2d43c4d45143b38ce7> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10112259#authors> . <https://discovery.ucl.ac.uk/id/eprint/10112259#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_12> <https://discovery.ucl.ac.uk/id/person/ext-c67126fca2078a2d43c4d45143b38ce7> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-2d58dc63aa70898e7c7b3efd88e91ef1> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10112259#authors> . <https://discovery.ucl.ac.uk/id/eprint/10112259#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_13> <https://discovery.ucl.ac.uk/id/person/ext-2d58dc63aa70898e7c7b3efd88e91ef1> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-76a34a7e14a8a7ef0e4cd87340a7f56e> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10112259#authors> . <https://discovery.ucl.ac.uk/id/eprint/10112259#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_14> <https://discovery.ucl.ac.uk/id/person/ext-76a34a7e14a8a7ef0e4cd87340a7f56e> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-811e99d0baa2c4d5a97ebfc92678c88e> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10112259#authors> . <https://discovery.ucl.ac.uk/id/eprint/10112259#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_15> <https://discovery.ucl.ac.uk/id/person/ext-811e99d0baa2c4d5a97ebfc92678c88e> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-c3d7c642b122dcfae1c82c12d3f3af0a> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10112259#authors> . <https://discovery.ucl.ac.uk/id/eprint/10112259#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_16> <https://discovery.ucl.ac.uk/id/person/ext-c3d7c642b122dcfae1c82c12d3f3af0a> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-441936229fc602ea6a69ea959e31e985> . <https://discovery.ucl.ac.uk/id/eprint/10112259> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10112259#authors> . <https://discovery.ucl.ac.uk/id/eprint/10112259#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_17> <https://discovery.ucl.ac.uk/id/person/ext-441936229fc602ea6a69ea959e31e985> . <https://discovery.ucl.ac.uk/id/person/ext-4e28b0c6bc6849faa7d5a2a90ea26374> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> . <https://discovery.ucl.ac.uk/id/person/ext-4e28b0c6bc6849faa7d5a2a90ea26374> <http://xmlns.com/foaf/0.1/givenName> "A"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-4e28b0c6bc6849faa7d5a2a90ea26374> <http://xmlns.com/foaf/0.1/familyName> "Zecchinelli"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-4e28b0c6bc6849faa7d5a2a90ea26374> <http://xmlns.com/foaf/0.1/name> "A Zecchinelli"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-441936229fc602ea6a69ea959e31e985> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> . <https://discovery.ucl.ac.uk/id/person/ext-441936229fc602ea6a69ea959e31e985> <http://xmlns.com/foaf/0.1/givenName> "H"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-441936229fc602ea6a69ea959e31e985> <http://xmlns.com/foaf/0.1/familyName> "Houlden"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-441936229fc602ea6a69ea959e31e985> <http://xmlns.com/foaf/0.1/name> "H Houlden"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-d93402a93c99c85dd4e48df161a207e0> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> . <https://discovery.ucl.ac.uk/id/person/ext-d93402a93c99c85dd4e48df161a207e0> <http://xmlns.com/foaf/0.1/givenName> "Z"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-d93402a93c99c85dd4e48df161a207e0> <http://xmlns.com/foaf/0.1/familyName> "Chen"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-d93402a93c99c85dd4e48df161a207e0> <http://xmlns.com/foaf/0.1/name> "Z Chen"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-2926283d0095b19e1e0cb2ab22bf4068> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> . <https://discovery.ucl.ac.uk/id/person/ext-2926283d0095b19e1e0cb2ab22bf4068> <http://xmlns.com/foaf/0.1/givenName> "S"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-2926283d0095b19e1e0cb2ab22bf4068> <http://xmlns.com/foaf/0.1/familyName> "Carmona"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-2926283d0095b19e1e0cb2ab22bf4068> <http://xmlns.com/foaf/0.1/name> "S Carmona"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-2cd56e56bccbc25771e18bff1f34ee6c> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> . <https://discovery.ucl.ac.uk/id/person/ext-2cd56e56bccbc25771e18bff1f34ee6c> <http://xmlns.com/foaf/0.1/givenName> "J"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-2cd56e56bccbc25771e18bff1f34ee6c> <http://xmlns.com/foaf/0.1/familyName> "Vandrovcova"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-2cd56e56bccbc25771e18bff1f34ee6c> <http://xmlns.com/foaf/0.1/name> "J Vandrovcova"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-295b07df54dd7480926da827fadec171> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> . <https://discovery.ucl.ac.uk/id/person/ext-295b07df54dd7480926da827fadec171> <http://xmlns.com/foaf/0.1/givenName> "V"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-295b07df54dd7480926da827fadec171> <http://xmlns.com/foaf/0.1/familyName> "Chelban"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-295b07df54dd7480926da827fadec171> <http://xmlns.com/foaf/0.1/name> "V Chelban"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-a21d889d47f663300123616a59d489cd> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> . <https://discovery.ucl.ac.uk/id/person/ext-a21d889d47f663300123616a59d489cd> 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