{"id":"https://openalex.org/W4286252647","doi":"https://doi.org/10.1016/j.ymgme.2022.07.009","title":"Psychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN)","display_name":"Psychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN)","publication_year":2022,"publication_date":"2022-07-19","ids":{"openalex":"https://openalex.org/W4286252647","doi":"https://doi.org/10.1016/j.ymgme.2022.07.009","pmid":"https://pubmed.ncbi.nlm.nih.gov/35878504","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/9613602"},"language":"en","primary_location":{"id":"doi:10.1016/j.ymgme.2022.07.009","doi":"https://doi.org/10.1016/j.ymgme.2022.07.009","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.ymgme.2022.07.009","pdf_url":null,"source":{"id":"https://openalex.org/S42433034","display_name":"Molecular Genetics and Metabolism","issn_l":"1096-7192","issn":["1096-7192","1096-7206"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"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":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Genetics and Metabolism","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/9613602","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5065715672","display_name":"Francesco Gavazzi","orcid":"https://orcid.org/0000-0002-4908-8395","observed_orcids":["https://orcid.org/0000-0002-4908-8395"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79940851","display_name":"University of Brescia","ror":"https://ror.org/02q2d2610","country_code":"IT","type":"education","lineage":["https://openalex.org/I79940851"]}],"countries":["IT","US"],"is_corresponding":false,"raw_author_name":"Francesco Gavazzi","raw_affiliation_strings":["Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Molecular and Translational Medicine, University of Brescia, Italy","Department of Molecular and Translational Medicine, University of Brescia, Italy","Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Molecular and Translational Medicine, University of Brescia, Italy","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79940851"]},{"raw_affiliation_string":"Department of Molecular and Translational Medicine, University of Brescia, Italy","institution_ids":["https://openalex.org/I79940851"]},{"raw_affiliation_string":"Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073903526","display_name":"Samuel R. Pierce","orcid":"https://orcid.org/0000-0003-3215-4162","observed_orcids":["https://orcid.org/0000-0003-3215-4162"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Samuel R. Pierce","raw_affiliation_strings":["Departmen of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departmen of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080716065","display_name":"Joseph Vithayathil","orcid":"https://orcid.org/0000-0002-1070-5237","observed_orcids":["https://orcid.org/0000-0002-1070-5237"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Joseph Vithayathil","raw_affiliation_strings":["Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081077014","display_name":"Kristin G. Cunningham","orcid":"https://orcid.org/0009-0001-0837-749X","observed_orcids":["https://orcid.org/0009-0001-0837-749X"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kristin Cunningham","raw_affiliation_strings":["Department of Occupational Therapy, Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Occupational Therapy, Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Kim Anderson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kim Anderson","raw_affiliation_strings":["Department of Occupational Therapy, Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Occupational Therapy, Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048205525","display_name":"Jacob McCann","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jacob McCann","raw_affiliation_strings":["Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068080658","display_name":"Ashley Moll","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ashley Moll","raw_affiliation_strings":["Department of Occupational Therapy, Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Occupational Therapy, Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023841262","display_name":"Kayla J. Muirhead","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kayla Muirhead","raw_affiliation_strings":["Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070933644","display_name":"Omar Sherbini","orcid":"https://orcid.org/0000-0001-6581-250X","observed_orcids":["https://orcid.org/0000-0001-6581-250X"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Omar Sherbini","raw_affiliation_strings":["Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070822989","display_name":"Erin O'Connor Prange","orcid":"https://orcid.org/0009-0002-2609-9187","observed_orcids":["https://orcid.org/0009-0002-2609-9187"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Erin Prange","raw_affiliation_strings":["Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006697902","display_name":"Holly A. Dubbs","orcid":"https://orcid.org/0000-0003-1370-6195","observed_orcids":["https://orcid.org/0000-0003-1370-6195"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Holly Dubbs","raw_affiliation_strings":["Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080704151","display_name":"Laura S. Tochen","orcid":"https://orcid.org/0000-0001-8174-6338","observed_orcids":["https://orcid.org/0000-0001-8174-6338"]},"institutions":[{"id":"https://openalex.org/I1336742384","display_name":"Children's National","ror":"https://ror.org/03wa2q724","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1336742384"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Laura Tochen","raw_affiliation_strings":["Children's National Medical Center, Department of Neurology, 111 Michigan Ave NW, Washington, DC 20010, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's National Medical Center, Department of Neurology, 111 Michigan Ave NW, Washington, DC 20010, USA","institution_ids":["https://openalex.org/I1336742384"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077477381","display_name":"Jamie L. Fraser","orcid":"https://orcid.org/0000-0002-7794-8903","observed_orcids":["https://orcid.org/0000-0002-7794-8903"]},"institutions":[{"id":"https://openalex.org/I1336742384","display_name":"Children's National","ror":"https://ror.org/03wa2q724","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1336742384"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jamie Fraser","raw_affiliation_strings":["Rare Disease Institute, Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Rare Disease Institute, Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA","institution_ids":["https://openalex.org/I1336742384"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102859760","display_name":"Ingo Helbig","orcid":"https://orcid.org/0000-0001-8486-0558","observed_orcids":["https://orcid.org/0000-0001-8486-0558"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ingo Helbig","raw_affiliation_strings":["Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA","Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA","Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]},{"raw_affiliation_string":"Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5104064000","display_name":"Naomi Lewin","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Naomi Lewin","raw_affiliation_strings":["Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008914939","display_name":"Nivedita Thakur","orcid":"https://orcid.org/0000-0003-4307-298X","observed_orcids":["https://orcid.org/0000-0003-4307-298X"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Nivedita Thakur","raw_affiliation_strings":["Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA","Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA","Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]},{"raw_affiliation_string":"Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5004600852","display_name":"Laura Ann Adang","orcid":"https://orcid.org/0000-0002-8454-1116","observed_orcids":["https://orcid.org/0000-0002-8454-1116"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Laura A. Adang","raw_affiliation_strings":["Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address: adangl@chop.edu","Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA","Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address: adangl@chop.edu","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]},{"raw_affiliation_string":"Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5004600852"],"corresponding_institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"],"apc_list":{"value":3970,"currency":"USD","value_usd":3970},"apc_paid":null,"fwci":0.9673,"has_fulltext":false,"cited_by_count":15,"citation_normalized_percentile":{"value":0.72445603,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":93,"max":99},"biblio":{"volume":"137","issue":"1-2","first_page":"26","last_page":"32"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T13481","display_name":"Neurological diseases and metabolism","score":0.9726999998092651,"subfield":{"id":"https://openalex.org/subfields/2808","display_name":"Neurology"},"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/T13481","display_name":"Neurological diseases and metabolism","score":0.9726999998092651,"subfield":{"id":"https://openalex.org/subfields/2808","display_name":"Neurology"},"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/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.010900000110268593,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.007899999618530273,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"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/beta-propeller-protein-associated-neurodegeneration","display_name":"beta-propeller protein-associated neurodegeneration","score":0.9909999966621399},{"id":"https://openalex.org/keywords/outcome-measures","display_name":"outcome measures","score":0.6549999713897705},{"id":"https://openalex.org/keywords/natural-history-disease","display_name":"natural history (disease)","score":0.7269999980926514},{"id":"https://openalex.org/keywords/cognitive-function","display_name":"cognitive function","score":0.5239999890327454},{"id":"https://openalex.org/keywords/gross-motor-function","display_name":"gross motor function","score":0.9810000061988831},{"id":"https://openalex.org/keywords/adaptive-behavior","display_name":"adaptive behavior","score":0.9549999833106995},{"id":"https://openalex.org/keywords/age-at-symptom-onset","display_name":"age at symptom onset","score":0.6859999895095825},{"id":"https://openalex.org/keywords/seizure-onset","display_name":"seizure onset","score":0.6660000085830688},{"id":"https://openalex.org/keywords/neurodegeneration","display_name":"neurodegeneration","score":0.49900001287460327},{"id":"https://openalex.org/keywords/phenotypic-heterogeneity","display_name":"phenotypic heterogeneity","score":0.5370000004768372},{"id":"https://openalex.org/keywords/floor-effect","display_name":"floor effect","score":0.5680000185966492}],"concepts":[{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.5199205279350281},{"id":"https://openalex.org/C2778261627","wikidata":"https://www.wikidata.org/wiki/Q2608695","display_name":"Movement disorders","level":3,"score":0.46359625458717346},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.43414148688316345},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.42006421089172363},{"id":"https://openalex.org/C114735433","wikidata":"https://www.wikidata.org/wiki/Q5610504","display_name":"Gross motor skill","level":3,"score":0.41958338022232056},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.41823485493659973},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.40813738107681274},{"id":"https://openalex.org/C1862650","wikidata":"https://www.wikidata.org/wiki/Q186005","display_name":"Physical therapy","level":1,"score":0.34318798780441284},{"id":"https://openalex.org/C169976356","wikidata":"https://www.wikidata.org/wiki/Q13208902","display_name":"Motor skill","level":2,"score":0.3412182033061981},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.23181083798408508},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.2193414270877838},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D002352","descriptor_name":"Carrier Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007501","descriptor_name":"Iron","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D011446","descriptor_name":"Prospective Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011594","descriptor_name":"Psychometrics","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":"D017063","descriptor_name":"Outcome Assessment, Health Care","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019189","descriptor_name":"Iron Metabolism Disorders","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D019189","descriptor_name":"Iron Metabolism Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1016/j.ymgme.2022.07.009","doi":"https://doi.org/10.1016/j.ymgme.2022.07.009","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.ymgme.2022.07.009","pdf_url":null,"source":{"id":"https://openalex.org/S42433034","display_name":"Molecular Genetics and Metabolism","issn_l":"1096-7192","issn":["1096-7192","1096-7206"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"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":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Genetics and Metabolism","raw_type":"journal-article"},{"id":"pmid:35878504","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/35878504","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":"Molecular genetics and metabolism","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:9613602","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/9613602","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Mol Genet Metab","raw_type":"Text"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:9613602","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/9613602","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Mol Genet Metab","raw_type":"Text"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":1.0,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G1663021542","display_name":"The Intellectual and Developmental Disabilities Research Center at CHOP/Penn","funder_award_id":"U54HD086984","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G2600201576","display_name":"Joint analysis of genomic and electronic medical record data to assess outcomes and drug response in pediatric epilepsies","funder_award_id":"K02NS112600","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G3724853850","display_name":"Remapping Clinical Neuroscience through Translation and Innovation Training (ReCoNnecT-IT)","funder_award_id":"T32NS091008","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G3852900853","display_name":"Channelopathy-Associated Epilepsy Research Center","funder_award_id":"U54NS108874","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G86583785","display_name":"Clinical measures in Aicardi Goutieres Syndrome","funder_award_id":"K23NS114113","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G9000891309","display_name":"Institutional Clinical and Translational Science Award","funder_award_id":"UL1TR001878","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G9000894322","display_name":"ClinGen Expert Curation Panel for the Epilepsies","funder_award_id":"U24NS120854","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G9000918009","display_name":"Global Leukodystrophy Initiative Clinical Trials Network (GLIA- CTN)","funder_award_id":"U54NS115052","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337359","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894"},{"id":"https://openalex.org/F4320337472","display_name":"National Center for Advancing Translational Sciences","ror":"https://ror.org/04pw6fb54"},{"id":"https://openalex.org/F4320337611","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":29,"referenced_works":["https://openalex.org/W44761025","https://openalex.org/W171019578","https://openalex.org/W1502917522","https://openalex.org/W1522857888","https://openalex.org/W1532093085","https://openalex.org/W1979081257","https://openalex.org/W1989119255","https://openalex.org/W2003280063","https://openalex.org/W2010989450","https://openalex.org/W2033300781","https://openalex.org/W2080044895","https://openalex.org/W2094172341","https://openalex.org/W2116232642","https://openalex.org/W2153132838","https://openalex.org/W2161067355","https://openalex.org/W2182333838","https://openalex.org/W2239656993","https://openalex.org/W2553874783","https://openalex.org/W2751659465","https://openalex.org/W2789465104","https://openalex.org/W2793244353","https://openalex.org/W2802138442","https://openalex.org/W2921528384","https://openalex.org/W2944189935","https://openalex.org/W2953234319","https://openalex.org/W3011950551","https://openalex.org/W3187536286","https://openalex.org/W3200243946","https://openalex.org/W6749158786"],"related_works":["https://openalex.org/W4414872180","https://openalex.org/W2917186707","https://openalex.org/W3180027645","https://openalex.org/W2781851030","https://openalex.org/W1967780408","https://openalex.org/W4224080951","https://openalex.org/W2924539484","https://openalex.org/W2513896550","https://openalex.org/W4415235666","https://openalex.org/W7162016200"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":4},{"year":2025,"cited_by_count":7},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2022-07-21T00:00:00"}