{"id":"https://openalex.org/W1980315577","doi":"https://doi.org/10.1016/j.ymgme.2013.04.001","title":"Retinal thinning in Gaucher disease patients and carriers: Results of a pilot study","display_name":"Retinal thinning in Gaucher disease patients and carriers: Results of a pilot study","publication_year":2013,"publication_date":"2013-04-16","ids":{"openalex":"https://openalex.org/W1980315577","doi":"https://doi.org/10.1016/j.ymgme.2013.04.001","mag":"1980315577","pmid":"https://pubmed.ncbi.nlm.nih.gov/23639447","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3682181"},"language":"en","primary_location":{"id":"doi:10.1016/j.ymgme.2013.04.001","doi":"https://doi.org/10.1016/j.ymgme.2013.04.001","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.ymgme.2013.04.001","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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Genetics and Metabolism","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://doi.org/10.1016/j.ymgme.2013.04.001","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5112315277","display_name":"Alisdair McNeill","orcid":"https://orcid.org/0000-0001-5702-3631","observed_orcids":["https://orcid.org/0000-0001-5702-3631"]},"institutions":[{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Alisdair McNeill","raw_affiliation_strings":["Department of Clinical Neurosciences, UCL Institute of Neurology, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Neurosciences, UCL Institute of Neurology, UK","institution_ids":["https://openalex.org/I4405260083","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013581647","display_name":"Gloria Roberti","orcid":"https://orcid.org/0000-0001-8788-5785","observed_orcids":["https://orcid.org/0000-0001-8788-5785"]},"institutions":[{"id":"https://openalex.org/I1325675289","display_name":"Moorfields Eye Hospital NHS Foundation Trust","ror":"https://ror.org/03zaddr67","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1325675289"]},{"id":"https://openalex.org/I4210088407","display_name":"NIHR Moorfields Biomedical Research Centre","ror":"https://ror.org/004hydx84","country_code":"GB","type":"facility","lineage":["https://openalex.org/I124357947","https://openalex.org/I1325675289","https://openalex.org/I34931013","https://openalex.org/I4210088407","https://openalex.org/I45129253"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Gloria Roberti","raw_affiliation_strings":["NIHR Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"NIHR Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, UK","institution_ids":["https://openalex.org/I1325675289","https://openalex.org/I4210088407","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018960148","display_name":"Gerassimos Lascaratos","orcid":"https://orcid.org/0000-0001-5936-1431","observed_orcids":["https://orcid.org/0000-0001-5936-1431"]},"institutions":[{"id":"https://openalex.org/I1325675289","display_name":"Moorfields Eye Hospital NHS Foundation Trust","ror":"https://ror.org/03zaddr67","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1325675289"]},{"id":"https://openalex.org/I4210088407","display_name":"NIHR Moorfields Biomedical Research Centre","ror":"https://ror.org/004hydx84","country_code":"GB","type":"facility","lineage":["https://openalex.org/I124357947","https://openalex.org/I1325675289","https://openalex.org/I34931013","https://openalex.org/I4210088407","https://openalex.org/I45129253"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Gerassimos Lascaratos","raw_affiliation_strings":["NIHR Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"NIHR Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, UK","institution_ids":["https://openalex.org/I1325675289","https://openalex.org/I4210088407","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016812185","display_name":"Derralynn A. Hughes","orcid":"https://orcid.org/0000-0003-4531-9173","observed_orcids":["https://orcid.org/0000-0003-4531-9173"]},"institutions":[{"id":"https://openalex.org/I2801138448","display_name":"The Royal Free Hospital","ror":"https://ror.org/01ge67z96","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I169248724","https://openalex.org/I2801138448"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Derralynn Hughes","raw_affiliation_strings":["Lysosomal Storage Disorders Unit, Royal Free Hospital, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Lysosomal Storage Disorders Unit, Royal Free Hospital, London, UK","institution_ids":["https://openalex.org/I2801138448"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024894157","display_name":"Atul B Mehta","orcid":"https://orcid.org/0000-0001-6474-9959","observed_orcids":["https://orcid.org/0000-0001-6474-9959","https://orcid.org/0000-0001-5423-2147","https://orcid.org/0000-0002-5490-6604"]},"institutions":[{"id":"https://openalex.org/I2801138448","display_name":"The Royal Free Hospital","ror":"https://ror.org/01ge67z96","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I169248724","https://openalex.org/I2801138448"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Atul Mehta","raw_affiliation_strings":["Lysosomal Storage Disorders Unit, Royal Free Hospital, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Lysosomal Storage Disorders Unit, Royal Free Hospital, London, UK","institution_ids":["https://openalex.org/I2801138448"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026703795","display_name":"David F. Garway\u2010Heath","orcid":"https://orcid.org/0000-0003-2907-6992","observed_orcids":["https://orcid.org/0000-0003-2907-6992","https://orcid.org/0000-0001-8611-1155"]},"institutions":[{"id":"https://openalex.org/I1325675289","display_name":"Moorfields Eye Hospital NHS Foundation Trust","ror":"https://ror.org/03zaddr67","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1325675289"]},{"id":"https://openalex.org/I4210088407","display_name":"NIHR Moorfields Biomedical Research Centre","ror":"https://ror.org/004hydx84","country_code":"GB","type":"facility","lineage":["https://openalex.org/I124357947","https://openalex.org/I1325675289","https://openalex.org/I34931013","https://openalex.org/I4210088407","https://openalex.org/I45129253"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"David F. Garway-Heath","raw_affiliation_strings":["NIHR Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"NIHR Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, UK","institution_ids":["https://openalex.org/I1325675289","https://openalex.org/I4210088407","https://openalex.org/I45129253"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5059770430","display_name":"Anthony H.V. Schapira","orcid":"https://orcid.org/0000-0002-3018-3966","observed_orcids":["https://orcid.org/0000-0002-3018-3966"]},"institutions":[{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"Anthony H.V. Schapira","raw_affiliation_strings":["Department of Clinical Neurosciences, UCL Institute of Neurology, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Neurosciences, UCL Institute of Neurology, UK","institution_ids":["https://openalex.org/I4405260083","https://openalex.org/I45129253"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5059770430"],"corresponding_institution_ids":["https://openalex.org/I4405260083","https://openalex.org/I45129253"],"apc_list":{"value":3680,"currency":"USD","value_usd":3680},"apc_paid":{"value":3680,"currency":"USD","value_usd":3680},"fwci":2.1286,"has_fulltext":false,"cited_by_count":36,"citation_normalized_percentile":{"value":0.86323667,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"109","issue":"2","first_page":"221","last_page":"223"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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/T10250","display_name":"Glaucoma and retinal disorders","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"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/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"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/gaucher-disease","display_name":"Gaucher disease","score":0.996999979019165},{"id":"https://openalex.org/keywords/retinal-thinning","display_name":"retinal thinning","score":0.9020000100135803},{"id":"https://openalex.org/keywords/retinal-ganglion-cell-layer","display_name":"retinal ganglion cell layer","score":0.9909999966621399},{"id":"https://openalex.org/keywords/parkinson-s-disease-risk","display_name":"Parkinson's disease risk","score":0.9120000004768372},{"id":"https://openalex.org/keywords/neurodegeneration","display_name":"neurodegeneration","score":0.8230000138282776},{"id":"https://openalex.org/keywords/optical-coherence-tomography","display_name":"optical coherence tomography","score":0.6919999718666077}],"concepts":[{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.6719245910644531},{"id":"https://openalex.org/C2780674200","wikidata":"https://www.wikidata.org/wiki/Q420038","display_name":"Glucocerebrosidase","level":3,"score":0.6611515879631042},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6555496454238892},{"id":"https://openalex.org/C2780827179","wikidata":"https://www.wikidata.org/wiki/Q422001","display_name":"Retinal","level":2,"score":0.6236963272094727},{"id":"https://openalex.org/C2776925932","wikidata":"https://www.wikidata.org/wiki/Q1755122","display_name":"Neurodegeneration","level":3,"score":0.5013742446899414},{"id":"https://openalex.org/C2778818243","wikidata":"https://www.wikidata.org/wiki/Q899552","display_name":"Optical coherence tomography","level":2,"score":0.46132010221481323},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.4495844841003418},{"id":"https://openalex.org/C2779734285","wikidata":"https://www.wikidata.org/wiki/Q11085","display_name":"Parkinson's disease","level":3,"score":0.435147762298584},{"id":"https://openalex.org/C118487528","wikidata":"https://www.wikidata.org/wiki/Q161437","display_name":"Ophthalmology","level":1,"score":0.3803309202194214}],"mesh":[{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000369","descriptor_name":"Aged, 80 and over","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":"D005776","descriptor_name":"Gaucher Disease","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D005776","descriptor_name":"Gaucher Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005776","descriptor_name":"Gaucher Disease","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D005962","descriptor_name":"Glucosylceramidase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010865","descriptor_name":"Pilot Projects","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012162","descriptor_name":"Retinal Degeneration","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D012162","descriptor_name":"Retinal Degeneration","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D012162","descriptor_name":"Retinal Degeneration","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D012165","descriptor_name":"Retinal Ganglion Cells","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D041623","descriptor_name":"Tomography, Optical Coherence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":7,"locations":[{"id":"doi:10.1016/j.ymgme.2013.04.001","doi":"https://doi.org/10.1016/j.ymgme.2013.04.001","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.ymgme.2013.04.001","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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Genetics and Metabolism","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:2681723","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3682181","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:3682181","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3682181","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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Mol Genet Metab","raw_type":"Text"},{"id":"pmid:23639447","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23639447","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:eprints.ucl.ac.uk.OAI2:1397289","doi":null,"is_oa":false,"landing_page_url":"https://discovery.ucl.ac.uk/id/eprint/1397289/","pdf_url":null,"source":{"id":"https://openalex.org/S4306400024","display_name":"UCL Discovery (University College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I45129253","host_organization_name":"University College London","host_organization_lineage":["https://openalex.org/I45129253"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Molecular Genetics and Metabolism , 109 (2) 221 - 223. (2013)","raw_type":"Article"},{"id":"pmh:oai:iris.uniroma1.it:11573/1763726","doi":null,"is_oa":true,"landing_page_url":"https://hdl.handle.net/11573/1763726","pdf_url":null,"source":{"id":"https://openalex.org/S4377196107","display_name":"IRIS Research product catalog (Sapienza University of Rome)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"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":"info:eu-repo/semantics/article"},{"id":"mag:2566813932","doi":null,"is_oa":false,"landing_page_url":"http://discovery.ucl.ac.uk/1397289/1/McNeill_Molecular_Genetics_and_Metabolism.pdf","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":{"id":"doi:10.1016/j.ymgme.2013.04.001","doi":"https://doi.org/10.1016/j.ymgme.2013.04.001","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.ymgme.2013.04.001","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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Genetics and Metabolism","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9922999739646912,"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/G2513708871","display_name":null,"funder_award_id":"G-1104","funder_id":"https://openalex.org/F4320320021","funder_display_name":"Parkinson's UK"},{"id":"https://openalex.org/G2845388095","display_name":null,"funder_award_id":"WT089698","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G3221442283","display_name":"A systematic investigation into the pathogenesis and course of Parkinson's syndrome","funder_award_id":"MC_G1000735","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G6265045657","display_name":null,"funder_award_id":"WT089698","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G8921296992","display_name":"A systematic investigation into the pathogenesis and course of Parkinson's syndrome.","funder_award_id":"089698","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"}],"funders":[{"id":"https://openalex.org/F4320311904","display_name":"Wellcome Trust","ror":"https://ror.org/029chgv08"},{"id":"https://openalex.org/F4320312744","display_name":"International Glaucoma Association","ror":"https://ror.org/038a5qa83"},{"id":"https://openalex.org/F4320319990","display_name":"National Institute for Health and Care Research","ror":"https://ror.org/0187kwz08"},{"id":"https://openalex.org/F4320320021","display_name":"Parkinson's UK","ror":"https://ror.org/02417p338"},{"id":"https://openalex.org/F4320327683","display_name":"Moorfields Eye Hospital NHS Foundation Trust","ror":"https://ror.org/03tb37539"},{"id":"https://openalex.org/F4320332585","display_name":"Allergan","ror":"https://ror.org/00wthd003"},{"id":"https://openalex.org/F4320334626","display_name":"Medical Research Council","ror":"https://ror.org/03x94j517"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":15,"referenced_works":["https://openalex.org/W1945664289","https://openalex.org/W1998015808","https://openalex.org/W2004998121","https://openalex.org/W2024633685","https://openalex.org/W2035498581","https://openalex.org/W2043461525","https://openalex.org/W2046148946","https://openalex.org/W2067140092","https://openalex.org/W2069214804","https://openalex.org/W2070235126","https://openalex.org/W2124181868","https://openalex.org/W2146606464","https://openalex.org/W2168114525","https://openalex.org/W2170281382","https://openalex.org/W2617895008"],"related_works":["https://openalex.org/W2566813932","https://openalex.org/W3086572406","https://openalex.org/W126872599","https://openalex.org/W3089270032","https://openalex.org/W6986997223","https://openalex.org/W2135877591","https://openalex.org/W4410314561","https://openalex.org/W3206290290","https://openalex.org/W2983261336","https://openalex.org/W4407037979"],"abstract_inverted_index":{"Both":[0],"Gaucher":[1,41,60],"disease":[2,42,61],"patients":[3,43,62],"and":[4,44,63],"heterozygous":[5],"glucocerebrosidase":[6],"mutation":[7],"carriers":[8,45,64],"are":[9],"at":[10,65],"increased":[11,66],"risk":[12,67],"of":[13,34,50,68],"Parkinson's":[14,23,70],"disease.":[15,24,71],"Retinal":[16],"thinning":[17,33],"has":[18],"been":[19],"reported":[20],"in":[21,40],"early":[22,52],"Here":[25],"we":[26],"used":[27],"optical":[28],"coherence":[29,55],"tomography":[30,56],"to":[31],"demonstrate":[32],"the":[35],"retinal":[36],"ganglion":[37],"cell":[38],"layer":[39],"who":[46],"manifest":[47],"clinical":[48],"markers":[49],"potential":[51],"neurodegeneration.":[53],"Optical":[54],"may":[57],"help":[58],"identify":[59],"developing":[69]},"counts_by_year":[{"year":2025,"cited_by_count":6},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":4},{"year":2020,"cited_by_count":4},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":4},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":4},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":1}],"updated_date":"2026-11-05T12:25:35.769452","created_date":"2016-06-24T00:00:00"}