{"id":"https://openalex.org/W2277804684","doi":"https://doi.org/10.1111/dmcn.13052","title":"Longitudinal analysis of the neurological features of ataxia\u2010telangiectasia","display_name":"Longitudinal analysis of the neurological features of ataxia\u2010telangiectasia","publication_year":2016,"publication_date":"2016-02-19","ids":{"openalex":"https://openalex.org/W2277804684","doi":"https://doi.org/10.1111/dmcn.13052","mag":"2277804684","pmid":"https://pubmed.ncbi.nlm.nih.gov/26896183"},"language":"en","primary_location":{"id":"doi:10.1111/dmcn.13052","doi":"https://doi.org/10.1111/dmcn.13052","is_oa":false,"landing_page_url":"https://doi.org/10.1111/dmcn.13052","pdf_url":null,"source":{"id":"https://openalex.org/S158041768","display_name":"Developmental Medicine & Child Neurology","issn_l":"0012-1622","issn":["0012-1622","1469-8749"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-3","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Developmental Medicine & Child Neurology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://nottingham-repository.worktribe.com/file/798322/1/%09Longitudinal%20analysis%20of%20the%20neurological%20features%20of%20ataxia-telangiectasia","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5035717914","display_name":"Thomas John Jackson","orcid":"https://orcid.org/0000-0003-1669-6666","observed_orcids":["https://orcid.org/0000-0003-1669-6666"]},"institutions":[{"id":"https://openalex.org/I142263535","display_name":"University of Nottingham","ror":"https://ror.org/01ee9ar58","country_code":"GB","type":"education","lineage":["https://openalex.org/I142263535"]},{"id":"https://openalex.org/I4210137227","display_name":"Queen's Medical Centre","ror":"https://ror.org/03ap6wx93","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1334287468","https://openalex.org/I4210137227"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Thomas J Jackson","raw_affiliation_strings":["School of Medicine, Queen's Medical Centre, University of Nottingham, Nottingham, UK"],"raw_orcid":"https://orcid.org/0000-0003-1669-6666","affiliations":[{"raw_affiliation_string":"School of Medicine, Queen's Medical Centre, University of Nottingham, Nottingham, UK","institution_ids":["https://openalex.org/I142263535","https://openalex.org/I4210137227"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086304546","display_name":"Gabriel Chow","orcid":"https://orcid.org/0000-0002-2447-8100","observed_orcids":["https://orcid.org/0000-0002-2447-8100"]},"institutions":[{"id":"https://openalex.org/I1334287468","display_name":"Nottingham University Hospitals NHS Trust","ror":"https://ror.org/05y3qh794","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1334287468"]},{"id":"https://openalex.org/I4210137227","display_name":"Queen's Medical Centre","ror":"https://ror.org/03ap6wx93","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1334287468","https://openalex.org/I4210137227"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Gabriel Chow","raw_affiliation_strings":["Nottingham Children's Hospital, Queen's Medical Centre, Nottingham University Hospitals NHS Trust, Nottingham, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Nottingham Children's Hospital, Queen's Medical Centre, Nottingham University Hospitals NHS Trust, Nottingham, UK","institution_ids":["https://openalex.org/I1334287468","https://openalex.org/I4210137227"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024253291","display_name":"Mohnish Suri","orcid":"https://orcid.org/0000-0001-9037-701X","observed_orcids":["https://orcid.org/0000-0001-9037-701X"]},"institutions":[{"id":"https://openalex.org/I1334287468","display_name":"Nottingham University Hospitals NHS Trust","ror":"https://ror.org/05y3qh794","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1334287468"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Mohnish Suri","raw_affiliation_strings":["Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK","institution_ids":["https://openalex.org/I1334287468"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090552410","display_name":"Philip J. Byrd","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I79619799","display_name":"University of Birmingham","ror":"https://ror.org/03angcq70","country_code":"GB","type":"education","lineage":["https://openalex.org/I79619799"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Philip Byrd","raw_affiliation_strings":["School of Cancer Sciences, University of Birmingham, Edgbaston, Birmingham, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"School of Cancer Sciences, University of Birmingham, Edgbaston, Birmingham, UK","institution_ids":["https://openalex.org/I79619799"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101495952","display_name":"Alexander Malcolm R. Taylor","orcid":"https://orcid.org/0000-0002-7818-7595","observed_orcids":["https://orcid.org/0000-0002-7818-7595","https://orcid.org/0000-0003-0914-0352"]},"institutions":[{"id":"https://openalex.org/I79619799","display_name":"University of Birmingham","ror":"https://ror.org/03angcq70","country_code":"GB","type":"education","lineage":["https://openalex.org/I79619799"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Malcolm R Taylor","raw_affiliation_strings":["School of Cancer Sciences, University of Birmingham, Edgbaston, Birmingham, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"School of Cancer Sciences, University of Birmingham, Edgbaston, Birmingham, UK","institution_ids":["https://openalex.org/I79619799"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5005251353","display_name":"William Patrick Whitehouse","orcid":"https://orcid.org/0000-0001-5207-5731","observed_orcids":["https://orcid.org/0000-0001-5207-5731"]},"institutions":[{"id":"https://openalex.org/I1334287468","display_name":"Nottingham University Hospitals NHS Trust","ror":"https://ror.org/05y3qh794","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1334287468"]},{"id":"https://openalex.org/I142263535","display_name":"University of Nottingham","ror":"https://ror.org/01ee9ar58","country_code":"GB","type":"education","lineage":["https://openalex.org/I142263535"]},{"id":"https://openalex.org/I4210137227","display_name":"Queen's Medical Centre","ror":"https://ror.org/03ap6wx93","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1334287468","https://openalex.org/I4210137227"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"William P Whitehouse","raw_affiliation_strings":["Nottingham Children's Hospital, Queen's Medical Centre, Nottingham University Hospitals NHS Trust, Nottingham, UK","School of Medicine, Queen's Medical Centre, University of Nottingham, Nottingham, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Nottingham Children's Hospital, Queen's Medical Centre, Nottingham University Hospitals NHS Trust, Nottingham, UK","institution_ids":["https://openalex.org/I1334287468","https://openalex.org/I4210137227"]},{"raw_affiliation_string":"School of Medicine, Queen's Medical Centre, University of Nottingham, Nottingham, UK","institution_ids":["https://openalex.org/I142263535","https://openalex.org/I4210137227"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5005251353"],"corresponding_institution_ids":["https://openalex.org/I1334287468","https://openalex.org/I142263535","https://openalex.org/I4210137227"],"apc_list":{"value":5300,"currency":"USD","value_usd":5300},"apc_paid":null,"fwci":1.4922,"has_fulltext":true,"cited_by_count":42,"citation_normalized_percentile":{"value":0.7871857,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"58","issue":"7","first_page":"690","last_page":"697"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.9272000193595886,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.9272000193595886,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.014299999922513962,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10123","display_name":"DNA Repair Mechanisms","score":0.010200000368058681,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/ataxia-telangiectasia","display_name":"ataxia telangiectasia","score":0.972000002861023},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.7910000085830688},{"id":"https://openalex.org/keywords/ataxia-telangiectasia-mutated","display_name":"ATM kinase","score":0.5429999828338623},{"id":"https://openalex.org/keywords/neurological-assessment","display_name":"neurological assessment","score":0.4449999928474426}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6300135850906372},{"id":"https://openalex.org/C2779486608","wikidata":"https://www.wikidata.org/wiki/Q387082","display_name":"Ataxia-telangiectasia","level":4,"score":0.6012716889381409},{"id":"https://openalex.org/C2780168130","wikidata":"https://www.wikidata.org/wiki/Q2916167","display_name":"Neurological examination","level":2,"score":0.5313834547996521},{"id":"https://openalex.org/C2780906641","wikidata":"https://www.wikidata.org/wiki/Q213373","display_name":"Ataxia","level":2,"score":0.5211144089698792},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.5206621885299683},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.5090017318725586},{"id":"https://openalex.org/C2780148635","wikidata":"https://www.wikidata.org/wiki/Q154709","display_name":"Cerebellar ataxia","level":3,"score":0.48512348532676697},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.4808571934700012},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.4645262658596039},{"id":"https://openalex.org/C143998085","wikidata":"https://www.wikidata.org/wiki/Q162555","display_name":"Oncology","level":1,"score":0.39682120084762573},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.21243825554847717},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.1503477394580841},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.1468794345855713},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.12771210074424744},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0834692120552063},{"id":"https://openalex.org/C143425029","wikidata":"https://www.wikidata.org/wiki/Q5205747","display_name":"DNA damage","level":3,"score":0.0},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000367","descriptor_name":"Age Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001260","descriptor_name":"Ataxia Telangiectasia","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D001260","descriptor_name":"Ataxia Telangiectasia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D001260","descriptor_name":"Ataxia Telangiectasia","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006113","descriptor_name":"United Kingdom","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008137","descriptor_name":"Longitudinal Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009460","descriptor_name":"Neurologic Examination","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012189","descriptor_name":"Retrospective Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013223","descriptor_name":"Statistics as Topic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017346","descriptor_name":"Protein Serine-Threonine Kinases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017346","descriptor_name":"Protein Serine-Threonine Kinases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D018450","descriptor_name":"Disease Progression","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018709","descriptor_name":"Statistics, Nonparametric","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":6,"locations":[{"id":"doi:10.1111/dmcn.13052","doi":"https://doi.org/10.1111/dmcn.13052","is_oa":false,"landing_page_url":"https://doi.org/10.1111/dmcn.13052","pdf_url":null,"source":{"id":"https://openalex.org/S158041768","display_name":"Developmental Medicine & Child Neurology","issn_l":"0012-1622","issn":["0012-1622","1469-8749"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-3","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Developmental Medicine & Child Neurology","raw_type":"journal-article"},{"id":"pmid:26896183","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/26896183","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Developmental medicine and child neurology","raw_type":"Journal Article"},{"id":"pmh:oai:nottingham-repository.worktribe.com:798322","doi":null,"is_oa":true,"landing_page_url":"https://nottingham-repository.worktribe.com/file/798322/1/%09Longitudinal%20analysis%20of%20the%20neurological%20features%20of%20ataxia-telangiectasia","pdf_url":null,"source":{"id":"https://openalex.org/S4306402483","display_name":"Repository@Nottingham (University of Nottingham)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I142263535","host_organization_name":"University of Nottingham","host_organization_lineage":["https://openalex.org/I142263535"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"","raw_type":"Journal Article"},{"id":"pmh:oai:https://nottingham-repository.worktribe.com/:798322","doi":null,"is_oa":true,"landing_page_url":"https://nottingham-repository.worktribe.com/output/798322","pdf_url":"https://nottingham-repository.worktribe.com/preview/2548444/Jackson%20Full%20manuscript.pdf","source":{"id":"https://openalex.org/S4306402483","display_name":"Repository@Nottingham (University of Nottingham)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I142263535","host_organization_name":"University of Nottingham","host_organization_lineage":["https://openalex.org/I142263535"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Journal Article"},{"id":"pmh:oai:eprints.nottingham.ac.uk:51341","doi":null,"is_oa":false,"landing_page_url":"https://onlinelibrary.wiley.com/doi/abs/10.1111/dmcn.13052","pdf_url":null,"source":{"id":"https://openalex.org/S4306402014","display_name":"Nottingham ePrints (University of Nottingham)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I142263535","host_organization_name":"University of Nottingham","host_organization_lineage":["https://openalex.org/I142263535"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Article"},{"id":"pmh:oai:pure.atira.dk:openaire_cris_publications/2563d0ec-e414-4b35-8716-b4cc95138e96","doi":null,"is_oa":false,"landing_page_url":"https://research.birmingham.ac.uk/en/publications/2563d0ec-e414-4b35-8716-b4cc95138e96","pdf_url":null,"source":{"id":"https://openalex.org/S4306402634","display_name":"University of Birmingham Research Portal (University of Birmingham)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I79619799","host_organization_name":"University of Birmingham","host_organization_lineage":["https://openalex.org/I79619799"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Jackson, T J, Chow, G, Suri, M, Byrd, P, Taylor, M R & Whitehouse, W P 2016, 'Longitudinal analysis of the neurological features of ataxia-telangiectasia', Developmental Medicine and Child Neurology, vol. 58, no. 7, pp. 690-7. https://doi.org/10.1111/dmcn.13052","raw_type":"article"}],"best_oa_location":{"id":"pmh:oai:nottingham-repository.worktribe.com:798322","doi":null,"is_oa":true,"landing_page_url":"https://nottingham-repository.worktribe.com/file/798322/1/%09Longitudinal%20analysis%20of%20the%20neurological%20features%20of%20ataxia-telangiectasia","pdf_url":null,"source":{"id":"https://openalex.org/S4306402483","display_name":"Repository@Nottingham (University of Nottingham)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I142263535","host_organization_name":"University of Nottingham","host_organization_lineage":["https://openalex.org/I142263535"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"","raw_type":"Journal Article"},"sustainable_development_goals":[{"score":0.9763000011444092,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G5519678101","display_name":null,"funder_award_id":"14346","funder_id":"https://openalex.org/F4320319985","funder_display_name":"Cancer Research UK"}],"funders":[{"id":"https://openalex.org/F4320319985","display_name":"Cancer Research UK","ror":"https://ror.org/054225q67"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2277804684.pdf","grobid_xml":"https://content.openalex.org/works/W2277804684.grobid-xml"},"referenced_works_count":16,"referenced_works":["https://openalex.org/W70468582","https://openalex.org/W1538505232","https://openalex.org/W1587026990","https://openalex.org/W1943073272","https://openalex.org/W1998603809","https://openalex.org/W2016057531","https://openalex.org/W2023742293","https://openalex.org/W2034065282","https://openalex.org/W2045791858","https://openalex.org/W2082444880","https://openalex.org/W2102759842","https://openalex.org/W2112451788","https://openalex.org/W2172199324","https://openalex.org/W2273106174","https://openalex.org/W2774486220","https://openalex.org/W4230096730"],"related_works":["https://openalex.org/W7204123522","https://openalex.org/W1998603809","https://openalex.org/W2102759842","https://openalex.org/W6929847389","https://openalex.org/W1982104525","https://openalex.org/W4362735264","https://openalex.org/W2902559538","https://openalex.org/W2034676120","https://openalex.org/W2155374906","https://openalex.org/W4308934516"],"abstract_inverted_index":{"AIM:":[0],"To":[1],"assess":[2],"the":[3,22,27,37,43,107,125,128,135,191],"relationship":[4],"between":[5,170],"genotype":[6,88],"and":[7,15,42,96,148,172],"neurological":[8,132,181],"progression":[9,75,130,177],"in":[10,134,151],"ataxia-telangiectasia":[11],"(A-T).":[12],"METHODS:":[13],"Clinical":[14],"laboratory":[16],"data":[17],"were":[18,34,54,100,110],"extracted":[19],"retrospectively":[20],"from":[21,62],"records":[23],"of":[24,69,131,178,190,197],"patients":[25,79,137],"attending":[26],"UK":[28],"National":[29],"Ataxia-Telangiectasia":[30],"Clinic.":[31],"Neurological":[32,45],"assessments":[33],"performed":[35],"using":[36,57],"A-T":[38,44,97],"Index":[39],"(Crawford":[40],"Score)":[41],"Examination":[46],"Scale":[47],"Toolkit":[48],"(A-T":[49],"NEST).":[50],"Variables":[51],"influencing":[52],"phenotype":[53,164],"identified":[55],"by":[56],"an":[58],"information-theoretic":[59],"approach":[60],"starting":[61],"a":[63,162,195],"maximal":[64],"model":[65],"to":[66],"generate":[67],"estimates":[68],"coefficients":[70,109],"for":[71,78,92,113],"each":[72],"variable.":[73],"Per-individual":[74],"was":[76,145],"assessed":[77],"with":[80],"three":[81,141],"or":[82,142,194],"more":[83,143],"clinic":[84],"attendances.":[85],"RESULTS:":[86],"The":[87,175],"could":[89],"be":[90],"determined":[91],"125/135":[93],"patients.":[94],"Crawford":[95],"NEST":[98],"scores":[99,133,182],"well":[101],"correlated.":[102],"For":[103],"both":[104],"scoring":[105],"systems":[106],"estimated":[108],"significantly":[111],"positive":[112],"Age":[114,120],"x":[115,121],"kinase":[116,159],"activity":[117,160],"but":[118,165],"not":[119,146],"protein":[122],"expression.":[123],"Unlike":[124],"per-genotype":[126],"analysis,":[127],"individual":[129,179],"34":[136],"that":[138],"attended":[139],"on":[140],"occasions":[144],"smooth":[147],"linear":[149],"(and":[150],"some":[152],"cases":[153],"improved":[154],"over":[155],"time).":[156],"INTERPRETATION:":[157],"Residual":[158],"confers":[161],"milder":[163],"there":[166],"is":[167],"no":[168],"difference":[169],"kinase-dead":[171],"protein-null":[173],"genotypes.":[174],"non-linear":[176],"patients'":[180],"may":[183],"reflect":[184],"biological":[185],"complexity,":[186],"day-to-day":[187],"variability,":[188],"limitations":[189],"assessment":[192],"methods":[193],"combination":[196],"all":[198],"three.":[199]},"counts_by_year":[{"year":2025,"cited_by_count":9},{"year":2023,"cited_by_count":7},{"year":2022,"cited_by_count":6},{"year":2021,"cited_by_count":6},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":4},{"year":2018,"cited_by_count":4},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":2}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}