{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T19:21:56Z","timestamp":1790018516808,"version":"4.0.1"},"reference-count":38,"publisher":"Elsevier BV","issue":"8","license":[{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"vor","delay-in-days":365,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["gimjournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genetics in Medicine"],"published-print":{"date-parts":[[2024,8]]},"DOI":"10.1016\/j.gim.2024.101169","type":"journal-article","created":{"date-parts":[[2024,5,20]],"date-time":"2024-05-20T22:00:04Z","timestamp":1716242404000},"page":"101169","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":18,"title":["Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder"],"prefix":"10.1016","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3576-5217","authenticated-orcid":false,"given":"Khemika K.","family":"Sudnawa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenxing","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sean","family":"Calamia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cara H.","family":"Kanner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer M.","family":"Bain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aliaa H.","family":"Abdelhakim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexa","family":"Geltzeiler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline M.","family":"Mebane","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank A.","family":"Provenzano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tristan T.","family":"Sands","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert J.","family":"Fee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacqueline","family":"Montes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yufeng","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3438-5685","authenticated-orcid":false,"given":"Wendy K.","family":"Chung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"2","key":"10.1016\/j.gim.2024.101169_bib1","article-title":"Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder","volume":"2","author":"Boyle","year":"2021","journal-title":"HGG Adv"},{"issue":"32","key":"10.1016\/j.gim.2024.101169_bib2","doi-asserted-by":"crossref","DOI":"10.1073\/pnas.2113795119","article-title":"De novo mutations in KIF1A-associated neuronal disorder (KAND) dominant-negatively inhibit motor activity and axonal transport of synaptic vesicle precursors","volume":"119","author":"Anazawa","year":"2022","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"1","key":"10.1016\/j.gim.2024.101169_bib3","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-017-12999-9","article-title":"Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene","volume":"7","author":"Cheon","year":"2017","journal-title":"Sci Rep"},{"issue":"5","key":"10.1016\/j.gim.2024.101169_bib4","doi-asserted-by":"crossref","DOI":"10.1242\/jcs.260742","article-title":"Insight into the regulation of axonal transport from the study of KIF1A-associated neurological disorder","volume":"136","author":"Chiba","year":"2023","journal-title":"J\u00a0Cell Sci"},{"issue":"10","key":"10.1016\/j.gim.2024.101169_bib5","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1002\/cm.21293","article-title":"Emerging roles for motor proteins in progenitor cell behavior and neuronal migration during brain development","volume":"73","author":"Dantas","year":"2016","journal-title":"Cytoskeleton (Hoboken)"},{"issue":"5","key":"10.1016\/j.gim.2024.101169_bib6","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.gim.2024.101169_bib7","series-title":"Vineland Adaptive Behavior Scales","author":"Sparrow","year":"2016"},{"issue":"4","key":"10.1016\/j.gim.2024.101169_bib8","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1111\/j.1469-8749.1997.tb07414.x","article-title":"Development and reliability of a system to classify gross motor function in children with cerebral palsy","volume":"39","author":"Palisano","year":"1997","journal-title":"Dev Med Child Neurol"},{"issue":"7","key":"10.1016\/j.gim.2024.101169_bib9","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1017\/S0012162206001162","article-title":"The Manual Ability Classification System (MACS) for children with cerebral palsy: scale development and evidence of validity and reliability","volume":"48","author":"Eliasson","year":"2006","journal-title":"Dev Med Child Neurol"},{"issue":"8","key":"10.1016\/j.gim.2024.101169_bib10","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1111\/j.1469-8749.2011.03996.x","article-title":"Developing and validating the Communication Function Classification System for individuals with cerebral palsy","volume":"53","author":"Hidecker","year":"2011","journal-title":"Dev Med Child Neurol"},{"issue":"3","key":"10.1016\/j.gim.2024.101169_bib11","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1111\/dmcn.12352","article-title":"Development and reliability of a system to classify the eating and drinking ability of people with cerebral palsy","volume":"56","author":"Sellers","year":"2014","journal-title":"Dev Med Child Neurol"},{"issue":"2","key":"10.1016\/j.gim.2024.101169_bib12","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1007\/s00455-018-09972-7","article-title":"Dysphagia-related quality of life in adults with cerebral palsy on full oral diet without enteral nutrition","volume":"34","author":"Yi","year":"2019","journal-title":"Dysphagia"},{"issue":"3","key":"10.1016\/j.gim.2024.101169_bib13","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1111\/j.1469-8749.1989.tb04003.x","article-title":"The gross motor function measure: a means to evaluate the effects of physical therapy","volume":"31","author":"Russell","year":"1989","journal-title":"Dev Med Child Neurol"},{"key":"10.1016\/j.gim.2024.101169_bib14","series-title":"Gross Motor Function Measure (GMFM-66 & GMFM-88) Users Manual","author":"Russell","year":"2002"},{"issue":"5","key":"10.1016\/j.gim.2024.101169_bib15","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0177965","article-title":"Targeted box and blocks test: normative data and comparison to standard tests","volume":"12","author":"Kontson","year":"2017","journal-title":"PLoS One"},{"issue":"2","key":"10.1016\/j.gim.2024.101169_bib16","first-page":"77","article-title":"Hand strength and dexterity","volume":"25","author":"Kellor","year":"1971","journal-title":"Am J Occup Ther"},{"issue":"2","key":"10.1016\/j.gim.2024.101169_bib17","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1136\/archdischild-2014-307396","article-title":"Timed motor function tests capacity in healthy children","volume":"101","author":"Pereira","year":"2016","journal-title":"Arch Dis Child"},{"issue":"4","key":"10.1016\/j.gim.2024.101169_bib18","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1016\/j.jpeds.2006.12.052","article-title":"Six-minute walk test in children and adolescents","volume":"150","author":"Geiger","year":"2007","journal-title":"J\u00a0Pediatr"},{"issue":"2","key":"10.1016\/j.gim.2024.101169_bib19","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1097\/PEP.0000000000000239","article-title":"Timed up and go: reference data for children who are school age","volume":"28","author":"Itzkowitz","year":"2016","journal-title":"Pediatr Phys Ther"},{"issue":"8","key":"10.1016\/j.gim.2024.101169_bib20","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1017\/S0012162205001027","article-title":"Investigation of the timed \u201cup & go\u201d test in children","volume":"47","author":"Williams","year":"2005","journal-title":"Dev Med Child Neurol"},{"key":"10.1016\/j.gim.2024.101169_bib21","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1016\/j.gaitpost.2016.12.023","article-title":"Reliability and validity of the protokinetics movement analysis software in measuring center of pressure during walking","volume":"52","author":"Lynall","year":"2017","journal-title":"Gait Posture"},{"issue":"15","key":"10.1016\/j.gim.2024.101169_bib22","doi-asserted-by":"crossref","DOI":"10.1073\/pnas.2016239118","article-title":"Biological structure and function emerge from scaling unsupervised learning to 250 million protein sequences","volume":"118","author":"Rives","year":"2021","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.gim.2024.101169_bib23","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1016\/j.gaitpost.2017.07.004","article-title":"Spatiotemporal and plantar pressure patterns of 1000 healthy individuals aged 3-101 years","volume":"58","author":"McKay","year":"2017","journal-title":"Gait Posture"},{"issue":"5","key":"10.1016\/j.gim.2024.101169_bib24","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1177\/000841748505200505","article-title":"Box and block test of manual dexterity: norms for 6-19 year olds","volume":"52","author":"Mathiowetz","year":"1985","journal-title":"Can J Occup Ther"},{"issue":"6","key":"10.1016\/j.gim.2024.101169_bib25","doi-asserted-by":"crossref","first-page":"386","DOI":"10.5014\/ajot.39.6.386","article-title":"Adult norms for the Box and Block Test of manual dexterity","volume":"39","author":"Mathiowetz","year":"1985","journal-title":"Am J Occup Ther"},{"issue":"16","key":"10.1016\/j.gim.2024.101169_bib26","doi-asserted-by":"crossref","first-page":"1512","DOI":"10.1212\/WNL.0000000000003847","article-title":"Reference values for developing responsive functional outcome measures across the lifespan","volume":"88","author":"McKay","year":"2017","journal-title":"Neurology"},{"issue":"2","key":"10.1016\/j.gim.2024.101169_bib27","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1055\/s-0039-3400988","article-title":"Mobility characteristics of children with spastic paraplegia due to a mutation in the KIF1A gene","volume":"51","author":"Van Beusichem","year":"2020","journal-title":"Neuropediatrics"},{"issue":"2","key":"10.1016\/j.gim.2024.101169_bib28","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1111\/jns.12368","article-title":"KIF1A-related disorders in children: a wide spectrum of central and peripheral nervous system involvement","volume":"25","author":"Nemani","year":"2020","journal-title":"J\u00a0Peripher Nerv Syst"},{"issue":"1","key":"10.1016\/j.gim.2024.101169_bib29","first-page":"437","article-title":"Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review","volume":"269","author":"Vecchia","year":"2022","journal-title":"J\u00a0Neurol"},{"issue":"5","key":"10.1016\/j.gim.2024.101169_bib30","doi-asserted-by":"crossref","first-page":"972","DOI":"10.3390\/genes14050972","article-title":"Expanding the knowledge of KIF1A-dependent disorders to a group of polish patients","volume":"14","author":"Paprocka","year":"2023","journal-title":"Genes (Basel)"},{"issue":"7","key":"10.1016\/j.gim.2024.101169_bib31","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1136\/jmedgenet-2020-107007","article-title":"Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders","volume":"58","author":"Nicita","year":"2021","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.gim.2024.101169_bib32","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1016\/j.gaitpost.2017.11.024","article-title":"A\u00a0systematic review of the gait characteristics associated with cerebellar ataxia","volume":"60","author":"Buckley","year":"2018","journal-title":"Gait Posture"},{"issue":"2","key":"10.1016\/j.gim.2024.101169_bib33","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1016\/0268-0033(87)90129-X","article-title":"The use of double support time for monitoring the gait of muscular dystrophy patients","volume":"2","author":"Khodadadeh","year":"1987","journal-title":"Clin Biomech (Bristol, Avon)"},{"issue":"1 Pt 1","key":"10.1016\/j.gim.2024.101169_bib34","article-title":"Bone density and metabolism in children and adolescents with moderate to severe cerebral palsy","volume":"110","author":"Henderson","year":"2002","journal-title":"Pediatrics"},{"issue":"1","key":"10.1016\/j.gim.2024.101169_bib35","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1038\/s41431-019-0497-z","article-title":"KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia","volume":"28","author":"Pennings","year":"2020","journal-title":"Eur J Hum Genet"},{"issue":"1","key":"10.1016\/j.gim.2024.101169_bib36","first-page":"267","article-title":"Cognitive impairment in people with epilepsy","volume":"11","author":"Novak","year":"2022","journal-title":"J\u00a0Clin Med"},{"issue":"7","key":"10.1016\/j.gim.2024.101169_bib37","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1016\/j.seizure.2010.06.007","article-title":"Active seizures are associated with reduced adaptive functioning in children with epilepsy","volume":"19","author":"Papazoglou","year":"2010","journal-title":"Seizure"},{"issue":"9","key":"10.1016\/j.gim.2024.101169_bib38","doi-asserted-by":"crossref","first-page":"1512","DOI":"10.1038\/s41588-023-01465-0","article-title":"Genome-wide prediction of disease variant effects with a deep protein language model","volume":"55","author":"Brandes","year":"2023","journal-title":"Nat Genet"}],"container-title":["Genetics in Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360024001035?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360024001035?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T02:07:42Z","timestamp":1754014062000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1098360024001035"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8]]},"references-count":38,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2024,8]]}},"alternative-id":["S1098360024001035"],"URL":"https:\/\/doi.org\/10.1016\/j.gim.2024.101169","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2024.02.29.24303377","asserted-by":"object"}]},"ISSN":["1098-3600"],"issn-type":[{"value":"1098-3600","type":"print"}],"subject":[],"published":{"date-parts":[[2024,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder","name":"articletitle","label":"Article Title"},{"value":"Genetics in Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gim.2024.101169","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 American College of Medical Genetics and Genomics. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"101169"}}