<> <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/1556901> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://purl.org/ontology/bibo/AcademicArticle> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://purl.org/ontology/bibo/Article> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/dc/terms/title> "Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/ontology/bibo/abstract> "OBJECTIVES: To analyse and describe the clinical and genetic spectrum of Charcot-Marie-Tooth disease (CMT) caused by mutations in the neurofilament light polypeptide gene (NEFL). METHODS: Combined analysis of newly identified patients with NEFL-related CMT and all previously reported cases from the literature. RESULTS: Five new unrelated patients with CMT carrying the NEFL mutations P8R and N98S and the novel variant L311P were identified. Combined data from these cases and 62 kindreds from the literature revealed four common mutations (P8R, P22S, N98S and E396K) and three mutational hotspots accounting for 37 (55%) and 50 (75%) kindreds, respectively. Eight patients had de novo mutations. Loss of large-myelinated fibres was a uniform feature in a total of 21 sural nerve biopsies and 'onion bulb' formations and/or thin myelin sheaths were observed in 14 (67%) of them. The neurophysiological phenotype was broad but most patients with E90K and N98S had upper limb motor conduction velocities <38 m/s. Age of onset was ≤3 years in 25 cases. Pyramidal tract signs were described in 13 patients and 7 patients were initially diagnosed with or tested for inherited ataxia. Patients with E90K and N98S frequently presented before age 3 years and developed hearing loss or other neurological features including ataxia and/or cerebellar atrophy on brain MRI. CONCLUSIONS: NEFL-related CMT is clinically and genetically heterogeneous. Based on this study, however, we propose mutational hotspots and relevant clinical-genetic associations that may be helpful in the evaluation of NEFL sequence variants and the differential diagnosis with other forms of CMT."^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/dc/terms/date> "2017-07-01" . <https://discovery.ucl.ac.uk/id/document/428719> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://purl.org/ontology/bibo/Document> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/ontology/bibo/volume> "88" . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/ontology/bibo/issue> "7" . <https://discovery.ucl.ac.uk/id/publication/ext-1468330X> <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-1468330X> <http://xmlns.com/foaf/0.1/name> "Journal of Neurology, Neurosurgery and Psychiatry"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/dc/terms/isPartOf> <https://discovery.ucl.ac.uk/id/publication/ext-1468330X> . <https://discovery.ucl.ac.uk/id/publication/ext-1468330X> <http://www.w3.org/2002/07/owl#sameAs> <urn:issn:1468330X> . <https://discovery.ucl.ac.uk/id/publication/ext-1468330X> <http://purl.org/ontology/bibo/issn> "1468330X" . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/ontology/bibo/status> <http://purl.org/ontology/bibo/status/published> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-96790143238aff2a144caf3d7149eb47> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/1556901#authors> . <https://discovery.ucl.ac.uk/id/eprint/1556901#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_1> <https://discovery.ucl.ac.uk/id/person/ext-96790143238aff2a144caf3d7149eb47> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-9b4f52c8fb93165132b01f4edda6e4c9> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/1556901#authors> . <https://discovery.ucl.ac.uk/id/eprint/1556901#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_2> <https://discovery.ucl.ac.uk/id/person/ext-9b4f52c8fb93165132b01f4edda6e4c9> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-8ac9475d5605e995e9a28370a1d377fc> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/1556901#authors> . <https://discovery.ucl.ac.uk/id/eprint/1556901#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_3> <https://discovery.ucl.ac.uk/id/person/ext-8ac9475d5605e995e9a28370a1d377fc> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-f35ee5ecb474e45328e4f765a6851eea> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/1556901#authors> . <https://discovery.ucl.ac.uk/id/eprint/1556901#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_4> <https://discovery.ucl.ac.uk/id/person/ext-f35ee5ecb474e45328e4f765a6851eea> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-97d5f7c0889aae4156fbd728d1bed4fe> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/1556901#authors> . <https://discovery.ucl.ac.uk/id/eprint/1556901#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_5> <https://discovery.ucl.ac.uk/id/person/ext-97d5f7c0889aae4156fbd728d1bed4fe> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-bae7f3228f407b86c18e3b221a3b7e2f> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/1556901#authors> . <https://discovery.ucl.ac.uk/id/eprint/1556901#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_6> <https://discovery.ucl.ac.uk/id/person/ext-bae7f3228f407b86c18e3b221a3b7e2f> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-a553bdb04882072e983d6613fbb6faf2> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/1556901#authors> . <https://discovery.ucl.ac.uk/id/eprint/1556901#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_7> <https://discovery.ucl.ac.uk/id/person/ext-a553bdb04882072e983d6613fbb6faf2> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-75f9603982ec94ac1d42a541ef344bfd> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/1556901#authors> . <https://discovery.ucl.ac.uk/id/eprint/1556901#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_8> <https://discovery.ucl.ac.uk/id/person/ext-75f9603982ec94ac1d42a541ef344bfd> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-13d4342ecb07bc78eff0386157ea2fbf> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/1556901#authors> . <https://discovery.ucl.ac.uk/id/eprint/1556901#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_9> <https://discovery.ucl.ac.uk/id/person/ext-13d4342ecb07bc78eff0386157ea2fbf> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-e311d37ea43d2fb7859c1f36f51e2d9d> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/1556901#authors> . <https://discovery.ucl.ac.uk/id/eprint/1556901#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_10> <https://discovery.ucl.ac.uk/id/person/ext-e311d37ea43d2fb7859c1f36f51e2d9d> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-35bad65abf8cf36ea6c5d71711334dae> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/1556901#authors> . <https://discovery.ucl.ac.uk/id/eprint/1556901#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_11> <https://discovery.ucl.ac.uk/id/person/ext-35bad65abf8cf36ea6c5d71711334dae> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-27aa98bec9f0f085c898dc5e4003d0ee> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/1556901#authors> . <https://discovery.ucl.ac.uk/id/eprint/1556901#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_12> <https://discovery.ucl.ac.uk/id/person/ext-27aa98bec9f0f085c898dc5e4003d0ee> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-6560dda7d94b7646acc77edc9a8e15fe> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/1556901#authors> . <https://discovery.ucl.ac.uk/id/eprint/1556901#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_13> <https://discovery.ucl.ac.uk/id/person/ext-6560dda7d94b7646acc77edc9a8e15fe> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-4b2ad9d5d0aaafcf147571d388bfc3b5> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/1556901#authors> . <https://discovery.ucl.ac.uk/id/eprint/1556901#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_14> <https://discovery.ucl.ac.uk/id/person/ext-4b2ad9d5d0aaafcf147571d388bfc3b5> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-f5cdc3b733b736cde6122b153f7eea8b> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/1556901#authors> . <https://discovery.ucl.ac.uk/id/eprint/1556901#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_15> <https://discovery.ucl.ac.uk/id/person/ext-f5cdc3b733b736cde6122b153f7eea8b> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-6b0f6a6d7040660a162d853f06cfc5ef> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/1556901#authors> . <https://discovery.ucl.ac.uk/id/eprint/1556901#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_16> <https://discovery.ucl.ac.uk/id/person/ext-6b0f6a6d7040660a162d853f06cfc5ef> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-609d5d9600abb617ea8b5ffec688714d> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/1556901#authors> . <https://discovery.ucl.ac.uk/id/eprint/1556901#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_17> <https://discovery.ucl.ac.uk/id/person/ext-609d5d9600abb617ea8b5ffec688714d> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-95eab7b34f7ffc292243548b124a3b11> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/1556901#authors> . <https://discovery.ucl.ac.uk/id/eprint/1556901#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_18> <https://discovery.ucl.ac.uk/id/person/ext-95eab7b34f7ffc292243548b124a3b11> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-8b8ae4a2afb1e35479a55efa996349db> . <https://discovery.ucl.ac.uk/id/eprint/1556901> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/1556901#authors> . <https://discovery.ucl.ac.uk/id/eprint/1556901#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_19> <https://discovery.ucl.ac.uk/id/person/ext-8b8ae4a2afb1e35479a55efa996349db> . <https://discovery.ucl.ac.uk/id/person/ext-a553bdb04882072e983d6613fbb6faf2> <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-a553bdb04882072e983d6613fbb6faf2> <http://xmlns.com/foaf/0.1/givenName> "R"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-a553bdb04882072e983d6613fbb6faf2> <http://xmlns.com/foaf/0.1/familyName> "Poh"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-a553bdb04882072e983d6613fbb6faf2> <http://xmlns.com/foaf/0.1/name> "R Poh"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-609d5d9600abb617ea8b5ffec688714d> <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-609d5d9600abb617ea8b5ffec688714d> <http://xmlns.com/foaf/0.1/givenName> "S"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-609d5d9600abb617ea8b5ffec688714d> <http://xmlns.com/foaf/0.1/familyName> "Züchner"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-609d5d9600abb617ea8b5ffec688714d> <http://xmlns.com/foaf/0.1/name> "S Züchner"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-96790143238aff2a144caf3d7149eb47> <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-96790143238aff2a144caf3d7149eb47> <http://xmlns.com/foaf/0.1/givenName> "A"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-96790143238aff2a144caf3d7149eb47> <http://xmlns.com/foaf/0.1/familyName> "Horga"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-96790143238aff2a144caf3d7149eb47> <http://xmlns.com/foaf/0.1/name> "A Horga"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-f35ee5ecb474e45328e4f765a6851eea> <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-f35ee5ecb474e45328e4f765a6851eea> <http://xmlns.com/foaf/0.1/givenName> "NU"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-f35ee5ecb474e45328e4f765a6851eea> <http://xmlns.com/foaf/0.1/familyName> "Jerath"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-f35ee5ecb474e45328e4f765a6851eea> <http://xmlns.com/foaf/0.1/name> "NU Jerath"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-bae7f3228f407b86c18e3b221a3b7e2f> <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-bae7f3228f407b86c18e3b221a3b7e2f> <http://xmlns.com/foaf/0.1/givenName> "JM"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-bae7f3228f407b86c18e3b221a3b7e2f> <http://xmlns.com/foaf/0.1/familyName> "Polke"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-bae7f3228f407b86c18e3b221a3b7e2f> <http://xmlns.com/foaf/0.1/name> "JM Polke"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-9b4f52c8fb93165132b01f4edda6e4c9> <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-9b4f52c8fb93165132b01f4edda6e4c9> <http://xmlns.com/foaf/0.1/givenName> "M"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-9b4f52c8fb93165132b01f4edda6e4c9> <http://xmlns.com/foaf/0.1/familyName> "Laurà "^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-9b4f52c8fb93165132b01f4edda6e4c9> <http://xmlns.com/foaf/0.1/name> "M Laurà "^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-8ac9475d5605e995e9a28370a1d377fc> <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-8ac9475d5605e995e9a28370a1d377fc> <http://xmlns.com/foaf/0.1/givenName> "Z"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-8ac9475d5605e995e9a28370a1d377fc> <http://xmlns.com/foaf/0.1/familyName> "Jaunmuktane"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-8ac9475d5605e995e9a28370a1d377fc> <http://xmlns.com/foaf/0.1/name> "Z Jaunmuktane"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-8b8ae4a2afb1e35479a55efa996349db> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> . 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