{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T04:37:17Z","timestamp":1792643837000,"version":"4.5.0"},"reference-count":22,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,9,11]],"date-time":"2017-09-11T00:00:00Z","timestamp":1505088000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","award":["G0601943"],"award-info":[{"award-number":["G0601943"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2017,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Mutations in the kinesin family member 1A (\n                    <jats:italic>KIF1A<\/jats:italic>\n                    ) gene have been associated with a wide range of phenotypes including recessive mutations causing hereditary sensory neuropathy and hereditary spastic paraplegia and\n                    <jats:italic>de novo<\/jats:italic>\n                    dominant mutations causing a more complex neurological disorder affecting both the central and peripheral nervous system. We identified by exome sequencing a\n                    <jats:italic>de novo<\/jats:italic>\n                    dominant missense variant, (c.38G&gt;A, p.R13H), within an ATP binding site of the kinesin motor domain in a patient manifesting a complex phenotype characterized by autism spectrum disorder (ASD), spastic paraplegia and axonal neuropathy. The presence of ASD distinguishes this case from previously reported patients with\n                    <jats:italic>de novo<\/jats:italic>\n                    dominant mutations in\n                    <jats:italic>KIF1A<\/jats:italic>\n                    .\n                  <\/jats:p>","DOI":"10.1111\/jns.12235","type":"journal-article","created":{"date-parts":[[2017,8,23]],"date-time":"2017-08-23T11:36:43Z","timestamp":1503488203000},"page":"460-463","source":"Crossref","is-referenced-by-count":41,"title":["A\n                    <i>de novo<\/i>\n                    dominant mutation in\n                    <i>KIF1A<\/i>\n                    associated with axonal neuropathy, spasticity and autism spectrum disorder"],"prefix":"10.1111","volume":"22","author":[{"given":"Pedro J.","family":"Tomaselli","sequence":"first","affiliation":[{"name":"MRC Centre for Neuromuscular Diseases and National Hospital for Neurology and Neurosurgery UCL Institute of Neurology  London UK"},{"name":"Department of Neuromuscular Disorders, Clinical Hospital of Ribeir\u00e3o Preto University of S\u00e3o Paulo  Ribeir\u00e3o Preto SP Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander M.","family":"Rossor","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuromuscular Diseases and National Hospital for Neurology and Neurosurgery UCL Institute of Neurology  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandro","family":"Horga","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuromuscular Diseases and National Hospital for Neurology and Neurosurgery UCL Institute of Neurology  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matilde","family":"Laura","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuromuscular Diseases and National Hospital for Neurology and Neurosurgery UCL Institute of Neurology  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julian C.","family":"Blake","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuromuscular Diseases and National Hospital for Neurology and Neurosurgery UCL Institute of Neurology  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[{"name":"Department of Neurogenetics The National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary M.","family":"Reilly","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuromuscular Diseases and National Hospital for Neurology and Neurosurgery UCL Institute of Neurology  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,9,11]]},"reference":[{"key":"e_1_2_5_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.10.002"},{"key":"e_1_2_5_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.198"},{"key":"e_1_2_5_1_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.261"},{"key":"e_1_2_5_1_5_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M211152200"},{"key":"e_1_2_5_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22709"},{"key":"e_1_2_5_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(09)61376-3"},{"key":"e_1_2_5_1_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000691"},{"key":"e_1_2_5_1_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2015.108"},{"key":"e_1_2_5_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90538-3"},{"key":"e_1_2_5_1_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2014.80"},{"key":"e_1_2_5_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.06.013"},{"key":"e_1_2_5_1_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001269"},{"key":"e_1_2_5_1_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep12742"},{"key":"e_1_2_5_1_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.297"},{"key":"e_1_2_5_2_2_1","unstructured":"The 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