{"id":"https://openalex.org/W2113687948","doi":"https://doi.org/10.1136/jmedgenet-2012-101212","title":"A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55)","display_name":"A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55)","publication_year":2012,"publication_date":"2012-11-27","ids":{"openalex":"https://openalex.org/W2113687948","doi":"https://doi.org/10.1136/jmedgenet-2012-101212","mag":"2113687948","pmid":"https://pubmed.ncbi.nlm.nih.gov/23188110"},"language":"en","primary_location":{"id":"doi:10.1136/jmedgenet-2012-101212","doi":"https://doi.org/10.1136/jmedgenet-2012-101212","is_oa":false,"landing_page_url":"https://doi.org/10.1136/jmedgenet-2012-101212","pdf_url":null,"source":{"id":"https://openalex.org/S112540174","display_name":"Journal of Medical Genetics","issn_l":"0022-2593","issn":["0022-2593","1468-6244"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Medical Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"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/A5038578704","display_name":"Haruo Shimazaki","orcid":"https://orcid.org/0000-0003-0628-7164","observed_orcids":["https://orcid.org/0000-0003-0628-7164"]},"institutions":[{"id":"https://openalex.org/I146500386","display_name":"Jichi Medical University","ror":"https://ror.org/010hz0g26","country_code":"JP","type":"education","lineage":["https://openalex.org/I146500386"]},{"id":"https://openalex.org/I4210153031","display_name":"Jichi Medical University Hospital","ror":"https://ror.org/04at0zw32","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210153031"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Haruo Shimazaki","raw_affiliation_strings":["Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan","institution_ids":["https://openalex.org/I146500386","https://openalex.org/I4210153031"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056719450","display_name":"Yoshihisa Takiyama","orcid":"https://orcid.org/0000-0002-5400-7107","observed_orcids":["https://orcid.org/0000-0002-5400-7107"]},"institutions":[{"id":"https://openalex.org/I66906201","display_name":"University of Yamanashi","ror":"https://ror.org/059x21724","country_code":"JP","type":"education","lineage":["https://openalex.org/I66906201"]}],"countries":["JP"],"is_corresponding":true,"raw_author_name":"Yoshihisa Takiyama","raw_affiliation_strings":["Department of Neurology, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, Yamanashi, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, Yamanashi, Japan","institution_ids":["https://openalex.org/I66906201"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005343323","display_name":"Hiroyuki Ishiura","orcid":"https://orcid.org/0000-0003-2975-7309","observed_orcids":["https://orcid.org/0000-0003-2975-7309"]},"institutions":[{"id":"https://openalex.org/I74801974","display_name":"The University of Tokyo","ror":"https://ror.org/057zh3y96","country_code":"JP","type":"education","lineage":["https://openalex.org/I74801974"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Hiroyuki Ishiura","raw_affiliation_strings":["Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan","institution_ids":["https://openalex.org/I74801974"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103868158","display_name":"Chika Sakai","orcid":"https://orcid.org/0000-0003-3686-6669","observed_orcids":["https://orcid.org/0000-0003-3686-6669"]},"institutions":[{"id":"https://openalex.org/I4210103779","display_name":"National Center of Neurology and Psychiatry","ror":"https://ror.org/0254bmq54","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210103779"]},{"id":"https://openalex.org/I4405287400","display_name":"National Institute of Neuroscience","ror":"https://ror.org/052fnx536","country_code":"JP","type":"government","lineage":["https://openalex.org/I4210103779","https://openalex.org/I4405287400"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Chika Sakai","raw_affiliation_strings":["Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan","institution_ids":["https://openalex.org/I4210103779","https://openalex.org/I4405287400"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032077033","display_name":"Yuichi Matsushima","orcid":"https://orcid.org/0000-0002-9861-9367","observed_orcids":["https://orcid.org/0000-0002-9861-9367"]},"institutions":[{"id":"https://openalex.org/I4210103779","display_name":"National Center of Neurology and Psychiatry","ror":"https://ror.org/0254bmq54","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210103779"]},{"id":"https://openalex.org/I4405287400","display_name":"National Institute of Neuroscience","ror":"https://ror.org/052fnx536","country_code":"JP","type":"government","lineage":["https://openalex.org/I4210103779","https://openalex.org/I4405287400"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yuichi Matsushima","raw_affiliation_strings":["Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan","institution_ids":["https://openalex.org/I4210103779","https://openalex.org/I4405287400"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051674111","display_name":"Hideyuki Hatakeyama","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210103779","display_name":"National Center of Neurology and Psychiatry","ror":"https://ror.org/0254bmq54","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210103779"]},{"id":"https://openalex.org/I4405287400","display_name":"National Institute of Neuroscience","ror":"https://ror.org/052fnx536","country_code":"JP","type":"government","lineage":["https://openalex.org/I4210103779","https://openalex.org/I4405287400"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Hideyuki Hatakeyama","raw_affiliation_strings":["Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan","institution_ids":["https://openalex.org/I4210103779","https://openalex.org/I4405287400"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Junko Honda","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I146500386","display_name":"Jichi Medical University","ror":"https://ror.org/010hz0g26","country_code":"JP","type":"education","lineage":["https://openalex.org/I146500386"]},{"id":"https://openalex.org/I4210153031","display_name":"Jichi Medical University Hospital","ror":"https://ror.org/04at0zw32","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210153031"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Junko Honda","raw_affiliation_strings":["Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan","institution_ids":["https://openalex.org/I146500386","https://openalex.org/I4210153031"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057726748","display_name":"Kumi Sakoe","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I146500386","display_name":"Jichi Medical University","ror":"https://ror.org/010hz0g26","country_code":"JP","type":"education","lineage":["https://openalex.org/I146500386"]},{"id":"https://openalex.org/I4210153031","display_name":"Jichi Medical University Hospital","ror":"https://ror.org/04at0zw32","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210153031"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Kumi Sakoe","raw_affiliation_strings":["Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan","institution_ids":["https://openalex.org/I146500386","https://openalex.org/I4210153031"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010226742","display_name":"Tametou Naoi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I146500386","display_name":"Jichi Medical University","ror":"https://ror.org/010hz0g26","country_code":"JP","type":"education","lineage":["https://openalex.org/I146500386"]},{"id":"https://openalex.org/I4210153031","display_name":"Jichi Medical University Hospital","ror":"https://ror.org/04at0zw32","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210153031"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Tametou Naoi","raw_affiliation_strings":["Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan","institution_ids":["https://openalex.org/I146500386","https://openalex.org/I4210153031"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087193447","display_name":"Michito Namekawa","orcid":"https://orcid.org/0000-0002-0070-2796","observed_orcids":["https://orcid.org/0000-0002-0070-2796"]},"institutions":[{"id":"https://openalex.org/I146500386","display_name":"Jichi Medical University","ror":"https://ror.org/010hz0g26","country_code":"JP","type":"education","lineage":["https://openalex.org/I146500386"]},{"id":"https://openalex.org/I4210153031","display_name":"Jichi Medical University Hospital","ror":"https://ror.org/04at0zw32","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210153031"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Michito Namekawa","raw_affiliation_strings":["Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan","institution_ids":["https://openalex.org/I146500386","https://openalex.org/I4210153031"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008494541","display_name":"Y. Fukuda","orcid":"https://orcid.org/0000-0002-9887-9820","observed_orcids":["https://orcid.org/0000-0002-9887-9820"]},"institutions":[{"id":"https://openalex.org/I74801974","display_name":"The University of Tokyo","ror":"https://ror.org/057zh3y96","country_code":"JP","type":"education","lineage":["https://openalex.org/I74801974"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yoko Fukuda","raw_affiliation_strings":["Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan","institution_ids":["https://openalex.org/I74801974"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028342652","display_name":"Yuji Takahashi","orcid":"https://orcid.org/0000-0001-5335-7757","observed_orcids":["https://orcid.org/0000-0001-5335-7757"]},"institutions":[{"id":"https://openalex.org/I74801974","display_name":"The University of Tokyo","ror":"https://ror.org/057zh3y96","country_code":"JP","type":"education","lineage":["https://openalex.org/I74801974"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yuji Takahashi","raw_affiliation_strings":["Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan","institution_ids":["https://openalex.org/I74801974"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5105352623","display_name":"Jun Goto","orcid":"https://orcid.org/0000-0002-4230-2328","observed_orcids":["https://orcid.org/0000-0002-4230-2328"]},"institutions":[{"id":"https://openalex.org/I74801974","display_name":"The University of Tokyo","ror":"https://ror.org/057zh3y96","country_code":"JP","type":"education","lineage":["https://openalex.org/I74801974"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Jun Goto","raw_affiliation_strings":["Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan","institution_ids":["https://openalex.org/I74801974"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056125632","display_name":"Shoji Tsuji","orcid":"https://orcid.org/0000-0001-5602-5686","observed_orcids":["https://orcid.org/0000-0001-5602-5686"]},"institutions":[{"id":"https://openalex.org/I74801974","display_name":"The University of Tokyo","ror":"https://ror.org/057zh3y96","country_code":"JP","type":"education","lineage":["https://openalex.org/I74801974"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Shoji Tsuji","raw_affiliation_strings":["Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan","institution_ids":["https://openalex.org/I74801974"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007362659","display_name":"Yu\u2010ichi Goto","orcid":"https://orcid.org/0000-0002-2426-9739","observed_orcids":["https://orcid.org/0000-0002-2426-9739"]},"institutions":[{"id":"https://openalex.org/I4210103779","display_name":"National Center of Neurology and Psychiatry","ror":"https://ror.org/0254bmq54","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210103779"]},{"id":"https://openalex.org/I4405287400","display_name":"National Institute of Neuroscience","ror":"https://ror.org/052fnx536","country_code":"JP","type":"government","lineage":["https://openalex.org/I4210103779","https://openalex.org/I4405287400"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yu-ichi Goto","raw_affiliation_strings":["Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan","institution_ids":["https://openalex.org/I4210103779","https://openalex.org/I4405287400"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5087113538","display_name":"Imaharu Nakano","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I146500386","display_name":"Jichi Medical University","ror":"https://ror.org/010hz0g26","country_code":"JP","type":"education","lineage":["https://openalex.org/I146500386"]},{"id":"https://openalex.org/I4210153031","display_name":"Jichi Medical University Hospital","ror":"https://ror.org/04at0zw32","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210153031"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Imaharu Nakano","raw_affiliation_strings":["Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan","institution_ids":["https://openalex.org/I146500386","https://openalex.org/I4210153031"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5056719450"],"corresponding_institution_ids":["https://openalex.org/I66906201"],"apc_list":null,"apc_paid":null,"fwci":3.7522,"has_fulltext":false,"cited_by_count":87,"citation_normalized_percentile":{"value":0.94941932,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":92,"max":100},"biblio":{"volume":"49","issue":"12","first_page":"777","last_page":"784"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":1.0,"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/T12331","display_name":"Hereditary Neurological Disorders","score":1.0,"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":9.999999747378752e-05,"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"}},{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/optic-atrophy","display_name":"optic atrophy","score":0.7300000190734863},{"id":"https://openalex.org/keywords/neuropathy","display_name":"neuropathy","score":0.9169999957084656},{"id":"https://openalex.org/keywords/nonsense-mutation","display_name":"nonsense mutation","score":0.7749999761581421},{"id":"https://openalex.org/keywords/mitochondrial-translation","display_name":"mitochondrial translation","score":0.7910000085830688},{"id":"https://openalex.org/keywords/mitochondrial-complex-i","display_name":"mitochondrial complex I","score":0.8820000290870667},{"id":"https://openalex.org/keywords/respiratory-complex-iv","display_name":"respiratory complex IV","score":0.9980000257492065},{"id":"https://openalex.org/keywords/consanguineous-family","display_name":"consanguineous family","score":0.8259999752044678},{"id":"https://openalex.org/keywords/pyramidal-tract-dysfunction","display_name":"pyramidal tract dysfunction","score":0.699999988079071}],"concepts":[{"id":"https://openalex.org/C96777560","wikidata":"https://www.wikidata.org/wiki/Q518638","display_name":"Nonsense mutation","level":5,"score":0.6846705675125122},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5906835198402405},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5484543442726135},{"id":"https://openalex.org/C2780395223","wikidata":"https://www.wikidata.org/wiki/Q657516","display_name":"Hereditary spastic paraplegia","level":4,"score":0.5399352312088013},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5169174671173096},{"id":"https://openalex.org/C2778233873","wikidata":"https://www.wikidata.org/wiki/Q2879095","display_name":"Optic neuropathy","level":3,"score":0.49914979934692383},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.48493197560310364},{"id":"https://openalex.org/C2781172350","wikidata":"https://www.wikidata.org/wiki/Q194520","display_name":"Atrophy","level":2,"score":0.45879244804382324},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.4544461667537689},{"id":"https://openalex.org/C3020761558","wikidata":"https://www.wikidata.org/wiki/Q211016","display_name":"Mitochondrial respiratory chain","level":3,"score":0.4434260129928589},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.31916284561157227},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.29676252603530884},{"id":"https://openalex.org/C28859421","wikidata":"https://www.wikidata.org/wiki/Q39572","display_name":"Mitochondrion","level":2,"score":0.21367475390434265},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.1392003893852234},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.07191774249076843},{"id":"https://openalex.org/C2780837183","wikidata":"https://www.wikidata.org/wiki/Q186029","display_name":"Optic nerve","level":2,"score":0.07089424133300781}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008040","descriptor_name":"Genetic Linkage","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":"D008928","descriptor_name":"Mitochondria","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008928","descriptor_name":"Mitochondria","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009896","descriptor_name":"Optic Atrophy","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009896","descriptor_name":"Optic Atrophy","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010454","descriptor_name":"Peptide Termination Factors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010523","descriptor_name":"Peripheral Nervous System Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010523","descriptor_name":"Peripheral Nervous System Diseases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D015419","descriptor_name":"Spastic Paraplegia, Hereditary","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015419","descriptor_name":"Spastic Paraplegia, Hereditary","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D024101","descriptor_name":"Mitochondrial Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1136/jmedgenet-2012-101212","doi":"https://doi.org/10.1136/jmedgenet-2012-101212","is_oa":false,"landing_page_url":"https://doi.org/10.1136/jmedgenet-2012-101212","pdf_url":null,"source":{"id":"https://openalex.org/S112540174","display_name":"Journal of Medical Genetics","issn_l":"0022-2593","issn":["0022-2593","1468-6244"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Medical Genetics","raw_type":"journal-article"},{"id":"pmid:23188110","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23188110","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":"Journal of medical genetics","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9537000060081482}],"study_designs":[],"awards":[{"id":"https://openalex.org/G4840172524","display_name":"Identification of the novel genes responsible for hereditary spastic paraplegias","funder_award_id":"23591253","funder_id":"https://openalex.org/F4320334764","funder_display_name":"Japan Society for the Promotion of Science"}],"funders":[{"id":"https://openalex.org/F4320334764","display_name":"Japan Society for the Promotion of Science","ror":"https://ror.org/00hhkn466"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":39,"referenced_works":["https://openalex.org/W571342114","https://openalex.org/W1498629854","https://openalex.org/W1569716332","https://openalex.org/W1975075811","https://openalex.org/W1975874422","https://openalex.org/W1976481511","https://openalex.org/W1976929204","https://openalex.org/W1984508337","https://openalex.org/W1985812526","https://openalex.org/W2004138170","https://openalex.org/W2006430824","https://openalex.org/W2012102114","https://openalex.org/W2012485466","https://openalex.org/W2015860806","https://openalex.org/W2018115681","https://openalex.org/W2028856933","https://openalex.org/W2037996565","https://openalex.org/W2047372042","https://openalex.org/W2058084296","https://openalex.org/W2071026538","https://openalex.org/W2079970365","https://openalex.org/W2085999461","https://openalex.org/W2089925466","https://openalex.org/W2103009936","https://openalex.org/W2104649555","https://openalex.org/W2110319998","https://openalex.org/W2114616086","https://openalex.org/W2129111957","https://openalex.org/W2129126029","https://openalex.org/W2129986515","https://openalex.org/W2131226021","https://openalex.org/W2133739310","https://openalex.org/W2143500395","https://openalex.org/W2153194361","https://openalex.org/W2159447177","https://openalex.org/W2159935987","https://openalex.org/W2165524515","https://openalex.org/W2169462682","https://openalex.org/W4255118548"],"related_works":["https://openalex.org/W1991562832","https://openalex.org/W3125868282","https://openalex.org/W3024287958","https://openalex.org/W2113047958","https://openalex.org/W2068619217","https://openalex.org/W953712523","https://openalex.org/W4414521053","https://openalex.org/W4238896592","https://openalex.org/W2791666420","https://openalex.org/W1967017542"],"abstract_inverted_index":{"BACKGROUND:":[0],"Autosomal":[1],"recessive":[2],"hereditary":[3],"spastic":[4],"paraplegias":[5],"(AR-HSP)":[6],"constitute":[7],"a":[8,50,65,124,129,203,214,221],"heterogeneous":[9],"group":[10],"of":[11,24,117,120,170,231,237],"neurodegenerative":[12],"diseases":[13],"involving":[14,75],"pyramidal":[15],"tracts":[16],"dysfunction.":[17],"The":[18,43,207],"genes":[19],"responsible":[20,34],"for":[21,35,61,68],"many":[22],"types":[23],"AR-HSPs":[25],"remain":[26],"unknown.":[27],"We":[28,70,127],"attempted":[29],"to":[30,213],"identify":[31],"the":[32,88,94,121,138,224,238],"gene":[33],"AR-HSP":[36,153,195],"with":[37,196],"optic":[38,197],"atrophy":[39,198],"and":[40,56,64,83,112,123,177,184,199,220],"neuropathy.":[41],"METHODS:":[42],"present":[44],"study":[45],"involved":[46],"two":[47,139],"patients":[48,140,155],"in":[49,135,137,141,150,159,167,180,191,202,216,223],"consanguineous":[51],"Japanese":[52,152],"family.":[53,143],"Neurologic":[54],"examination":[55],"DNA":[57],"analysis":[58,74],"were":[59],"performed":[60,71,98],"both":[62],"patients,":[63],"skin":[66],"biopsy":[67],"one.":[69],"genome-wide":[72],"linkage":[73],"single":[76],"nucleotide":[77],"polymorphism":[78],"arrays,":[79],"copy-number":[80],"variation":[81],"analysis,":[82,100,111],"exome":[84],"sequencing.":[85],"To":[86],"clarify":[87],"mitochondrial":[89,101,171,217,232],"functional":[90,176],"alteration":[91],"resulting":[92,201],"from":[93],"identified":[95,128],"mutation,":[96],"we":[97],"immunoblot":[99],"protein":[102,172,210,218],"synthesis":[103,219],"assaying,":[104],"blue":[105],"native":[106],"polyacrylamide":[107],"gel":[108],"electrophoresis":[109],"(BN-PAGE)":[110],"respiratory":[113,181,225],"enzyme":[114,227],"activity":[115],"assaying":[116],"cultured":[118],"fibroblasts":[119],"patient":[122],"control.":[125],"RESULTS:":[126],"homozygous":[130],"nonsense":[131,189],"mutation":[132,146,165,190],"(c.394C>T,":[133],"p.R132X)":[134],"C12orf65":[136,145,192,209],"this":[142],"This":[144,164,187],"was":[147],"not":[148],"found":[149],"74":[151],"index":[154],"without":[156],"any":[157],"mutations":[158],"previously":[160],"known":[161],"HSP":[162],"genes.":[163],"resulted":[166],"marked":[168],"reduction":[169,222],"synthesis,":[173],"followed":[174],"by":[175],"structural":[178],"defects":[179],"complexes":[182],"I":[183],"IV.":[185],"CONCLUSIONS:":[186],"novel":[188],"could":[193,234],"cause":[194],"neuropathy,":[200],"premature":[204],"stop":[205],"codon.":[206],"truncated":[208],"must":[211],"lead":[212],"defect":[215],"complex":[226],"activity.":[228],"Thus,":[229],"dysfunction":[230],"translation":[233],"be":[235],"one":[236],"pathogenic":[239],"mechanisms":[240],"underlying":[241],"HSPs.":[242]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":9},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":6},{"year":2020,"cited_by_count":5},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":5},{"year":2017,"cited_by_count":7},{"year":2016,"cited_by_count":6},{"year":2015,"cited_by_count":14},{"year":2014,"cited_by_count":13},{"year":2013,"cited_by_count":7}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
