{"id":"https://openalex.org/W4241084335","doi":"https://doi.org/10.1016/b978-0-12-813866-3.00006-0","title":"Friedreich ataxia","display_name":"Friedreich ataxia","publication_year":2020,"publication_date":"2020-01-01","ids":{"openalex":"https://openalex.org/W4241084335","doi":"https://doi.org/10.1016/b978-0-12-813866-3.00006-0"},"language":"en","primary_location":{"id":"doi:10.1016/b978-0-12-813866-3.00006-0","doi":"https://doi.org/10.1016/b978-0-12-813866-3.00006-0","is_oa":false,"landing_page_url":"https://doi.org/10.1016/b978-0-12-813866-3.00006-0","pdf_url":null,"source":{"id":"https://openalex.org/S4306463230","display_name":"Elsevier eBooks","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"ebook platform"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease","raw_type":"book-chapter"},"volume":{"id":"https://openalex.org/W4241197829","display_name":"Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease"},"type":"book-chapter","indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5080418392","display_name":"Massimo Pandolfo","orcid":"https://orcid.org/0000-0001-5230-5787","observed_orcids":["https://orcid.org/0000-0001-5230-5787"]},"institutions":[{"id":"https://openalex.org/I132053463","display_name":"Universit\u00e9 Libre de Bruxelles","ror":"https://ror.org/01r9htc13","country_code":"BE","type":"education","lineage":["https://openalex.org/I132053463"]},{"id":"https://openalex.org/I2802054198","display_name":"Erasmus Hospital","ror":"https://ror.org/05j1gs298","country_code":"BE","type":"healthcare","lineage":["https://openalex.org/I2802054198"]}],"countries":["BE"],"is_corresponding":true,"raw_author_name":"Massimo Pandolfo","raw_affiliation_strings":["Neurology Service, H\u00f4pital Erasme, and Laboratory of Experimental Neurology, Universit\u00e9 Libre de Bruxelles, Brussels, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurology Service, H\u00f4pital Erasme, and Laboratory of Experimental Neurology, Universit\u00e9 Libre de Bruxelles, Brussels, Belgium","institution_ids":["https://openalex.org/I132053463","https://openalex.org/I2802054198"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5080418392"],"corresponding_institution_ids":["https://openalex.org/I132053463","https://openalex.org/I2802054198"],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.45206972,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":"99","last_page":"112"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.9922000169754028,"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":0.9922000169754028,"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/T12331","display_name":"Hereditary Neurological Disorders","score":0.0015999999595806003,"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/T10301","display_name":"Mitochondrial Function and Pathology","score":0.0013000000035390258,"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/friedreich-ataxia","display_name":"Friedreich's ataxia","score":1.0},{"id":"https://openalex.org/keywords/frataxin","display_name":"frataxin","score":0.824999988079071},{"id":"https://openalex.org/keywords/fxn-gene","display_name":"FXN gene","score":0.9729999899864197},{"id":"https://openalex.org/keywords/gaa-triplet-repeat-expansion","display_name":"GAA triplet repeat expansion","score":0.9399999976158142},{"id":"https://openalex.org/keywords/autosomal-recessive-ataxia","display_name":"autosomal recessive ataxia","score":0.8700000047683716},{"id":"https://openalex.org/keywords/hypertrophic-cardiomyopathy","display_name":"hypertrophic cardiomyopathy","score":0.7570000290870667},{"id":"https://openalex.org/keywords/iron-sulfur-cluster-assembly","display_name":"iron-sulfur cluster assembly","score":0.875},{"id":"https://openalex.org/keywords/mitochondrial-dysfunction","display_name":"mitochondrial dysfunction","score":0.9800000190734863},{"id":"https://openalex.org/keywords/oxidative-stress","display_name":"oxidative stress","score":0.875},{"id":"https://openalex.org/keywords/iron-metabolism","display_name":"iron metabolism","score":0.8460000157356262},{"id":"https://openalex.org/keywords/epigenetic-silencing","display_name":"epigenetic silencing","score":0.6949999928474426},{"id":"https://openalex.org/keywords/kyphoscoliosis","display_name":"kyphoscoliosis","score":0.7409999966621399},{"id":"https://openalex.org/keywords/pes-cavus","display_name":"pes cavus","score":0.6959999799728394},{"id":"https://openalex.org/keywords/diabetes-mellitus","display_name":"diabetes mellitus","score":0.9129999876022339},{"id":"https://openalex.org/keywords/ataxia","display_name":"ataxia","score":0.4410000145435333},{"id":"https://openalex.org/keywords/age-of-onset","display_name":"age of onset","score":0.6110000014305115}],"concepts":[{"id":"https://openalex.org/C2779314966","wikidata":"https://www.wikidata.org/wiki/Q409999","display_name":"Frataxin","level":4,"score":0.9692099094390869},{"id":"https://openalex.org/C2780906641","wikidata":"https://www.wikidata.org/wiki/Q213373","display_name":"Ataxia","level":2,"score":0.7270820140838623},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.42767494916915894},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3684174716472626},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3414592146873474},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.26424360275268555},{"id":"https://openalex.org/C28859421","wikidata":"https://www.wikidata.org/wiki/Q39572","display_name":"Mitochondrion","level":2,"score":0.24510404467582703},{"id":"https://openalex.org/C200886947","wikidata":"https://www.wikidata.org/wiki/Q342083","display_name":"Aconitase","level":3,"score":0.18934404850006104}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/b978-0-12-813866-3.00006-0","doi":"https://doi.org/10.1016/b978-0-12-813866-3.00006-0","is_oa":false,"landing_page_url":"https://doi.org/10.1016/b978-0-12-813866-3.00006-0","pdf_url":null,"source":{"id":"https://openalex.org/S4306463230","display_name":"Elsevier eBooks","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"ebook platform"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease","raw_type":"book-chapter"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9940000176429749}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":129,"referenced_works":["https://openalex.org/W9545950","https://openalex.org/W29661097","https://openalex.org/W64365614","https://openalex.org/W146312310","https://openalex.org/W151049023","https://openalex.org/W179211691","https://openalex.org/W386087236","https://openalex.org/W1233479548","https://openalex.org/W1484379620","https://openalex.org/W1824747960","https://openalex.org/W1963627044","https://openalex.org/W1967873911","https://openalex.org/W1971493278","https://openalex.org/W1973480039","https://openalex.org/W1974098320","https://openalex.org/W1975933947","https://openalex.org/W1981307550","https://openalex.org/W1985128559","https://openalex.org/W1986989450","https://openalex.org/W1988572435","https://openalex.org/W1990002392","https://openalex.org/W1990208477","https://openalex.org/W1992187326","https://openalex.org/W1995962173","https://openalex.org/W2002553228","https://openalex.org/W2005610014","https://openalex.org/W2011220462","https://openalex.org/W2011759409","https://openalex.org/W2012275421","https://openalex.org/W2012641487","https://openalex.org/W2012698221","https://openalex.org/W2012909868","https://openalex.org/W2014020549","https://openalex.org/W2017354372","https://openalex.org/W2021585427","https://openalex.org/W2021589657","https://openalex.org/W2029361546","https://openalex.org/W2030713637","https://openalex.org/W2031425761","https://openalex.org/W2032253254","https://openalex.org/W2034788273","https://openalex.org/W2042953568","https://openalex.org/W2043895241","https://openalex.org/W2046694808","https://openalex.org/W2050244960","https://openalex.org/W2050876258","https://openalex.org/W2051234541","https://openalex.org/W2051265027","https://openalex.org/W2053787598","https://openalex.org/W2057404038","https://openalex.org/W2060522888","https://openalex.org/W2062606602","https://openalex.org/W2063040551","https://openalex.org/W2067325471","https://openalex.org/W2068613767","https://openalex.org/W2069673982","https://openalex.org/W2069849662","https://openalex.org/W2071254988","https://openalex.org/W2071849674","https://openalex.org/W2072534834","https://openalex.org/W2074070702","https://openalex.org/W2077274480","https://openalex.org/W2078453780","https://openalex.org/W2081433439","https://openalex.org/W2088003463","https://openalex.org/W2090894527","https://openalex.org/W2094198751","https://openalex.org/W2095184629","https://openalex.org/W2096392022","https://openalex.org/W2098129078","https://openalex.org/W2098675655","https://openalex.org/W2100137986","https://openalex.org/W2105822562","https://openalex.org/W2106524175","https://openalex.org/W2108114898","https://openalex.org/W2108196410","https://openalex.org/W2110977020","https://openalex.org/W2114190171","https://openalex.org/W2115953418","https://openalex.org/W2121172870","https://openalex.org/W2134435694","https://openalex.org/W2135816493","https://openalex.org/W2135982928","https://openalex.org/W2139214717","https://openalex.org/W2142275018","https://openalex.org/W2153939826","https://openalex.org/W2154267544","https://openalex.org/W2155385687","https://openalex.org/W2158155007","https://openalex.org/W2160045590","https://openalex.org/W2219883637","https://openalex.org/W2275107318","https://openalex.org/W2318950463","https://openalex.org/W2326598265","https://openalex.org/W2336904126","https://openalex.org/W2346940496","https://openalex.org/W2472252965","https://openalex.org/W2509096562","https://openalex.org/W2511079975","https://openalex.org/W2511296014","https://openalex.org/W2562266410","https://openalex.org/W2577986119","https://openalex.org/W2625087901","https://openalex.org/W2626486519","https://openalex.org/W2692809343","https://openalex.org/W2739034188","https://openalex.org/W2746921606","https://openalex.org/W2761139839","https://openalex.org/W2765392609","https://openalex.org/W2765459271","https://openalex.org/W2778815928","https://openalex.org/W2791565546","https://openalex.org/W2796113734","https://openalex.org/W2803539617","https://openalex.org/W2805477090","https://openalex.org/W2810078876","https://openalex.org/W2885865777","https://openalex.org/W2887466728","https://openalex.org/W2899749477","https://openalex.org/W2904956098","https://openalex.org/W2905562204","https://openalex.org/W2914514173","https://openalex.org/W2936119934","https://openalex.org/W2941023745","https://openalex.org/W2944229383","https://openalex.org/W2953049417","https://openalex.org/W3160886994","https://openalex.org/W4236028451","https://openalex.org/W6757194622"],"related_works":["https://openalex.org/W2084199428","https://openalex.org/W1968488865","https://openalex.org/W2616145256","https://openalex.org/W2553660795","https://openalex.org/W2091209528","https://openalex.org/W2044786374","https://openalex.org/W4251905020","https://openalex.org/W4407810398","https://openalex.org/W4413042322","https://openalex.org/W2011928819"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-10-16T09:59:22.235173","created_date":"2022-05-12T00:00:00"}
