{"id":"https://openalex.org/W2071440436","doi":"https://doi.org/10.1016/s0304-3940(02)00239-2","title":"A novel mutation in the spastin gene in a family with spastic paraplegia","display_name":"A novel mutation in the spastin gene in a family with spastic paraplegia","publication_year":2002,"publication_date":"2002-05-01","ids":{"openalex":"https://openalex.org/W2071440436","doi":"https://doi.org/10.1016/s0304-3940(02)00239-2","mag":"2071440436","pmid":"https://pubmed.ncbi.nlm.nih.gov/12023066"},"language":"en","primary_location":{"id":"doi:10.1016/s0304-3940(02)00239-2","doi":"https://doi.org/10.1016/s0304-3940(02)00239-2","is_oa":false,"landing_page_url":"https://doi.org/10.1016/s0304-3940(02)00239-2","pdf_url":null,"source":{"id":"https://openalex.org/S203050076","display_name":"Neuroscience Letters","issn_l":"0304-3940","issn":["0304-3940","1872-7972"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","medline","poland-70","russia-white-list-2","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":"Neuroscience Letters","raw_type":"journal-article"},"volume":null,"type":"article","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/A5075135713","display_name":"Mitsuya Morita","orcid":"https://orcid.org/0000-0002-0164-3740","observed_orcids":["https://orcid.org/0000-0002-0164-3740"]},"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/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["JP","US"],"is_corresponding":true,"raw_author_name":"Mitsuya Morita","raw_affiliation_strings":["Cecil B. Day Laboratory for Neuromuscular Research, Massachusetts General Hospital East, Room 3125, Building 114, 16th Street, Charlestown, MA 02129, USA. morita-jci@umin.ac.jp","Cecil B. Day Laboratory for Neuromuscular Research, Massachusetts General Hospital East, Room 3125, Building 114, 16th Street, Charlestown, MA 02129, USA","Department of Neurology, Jichi Medical School, 3311-1 Yakushiji, Minamikawachi-machi, Tochigi 329-0498, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cecil B. Day Laboratory for Neuromuscular Research, Massachusetts General Hospital East, Room 3125, Building 114, 16th Street, Charlestown, MA 02129, USA. morita-jci@umin.ac.jp","institution_ids":["https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Cecil B. Day Laboratory for Neuromuscular Research, Massachusetts General Hospital East, Room 3125, Building 114, 16th Street, Charlestown, MA 02129, USA","institution_ids":["https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Department of Neurology, Jichi Medical School, 3311-1 Yakushiji, Minamikawachi-machi, Tochigi 329-0498, Japan","institution_ids":["https://openalex.org/I146500386"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110118016","display_name":"Mac Ho","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mac Ho","raw_affiliation_strings":["Cecil B. Day Laboratory for Neuromuscular Research, Massachusetts General Hospital East, Room 3125, Building 114, 16th Street, Charlestown, MA 02129, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cecil B. Day Laboratory for Neuromuscular Research, Massachusetts General Hospital East, Room 3125, Building 114, 16th Street, Charlestown, MA 02129, USA","institution_ids":["https://openalex.org/I4210087915"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103558490","display_name":"Betsy A. Hosler","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Betsy A. Hosler","raw_affiliation_strings":["Cecil B. Day Laboratory for Neuromuscular Research, Massachusetts General Hospital East, Room 3125, Building 114, 16th Street, Charlestown, MA 02129, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cecil B. Day Laboratory for Neuromuscular Research, Massachusetts General Hospital East, Room 3125, Building 114, 16th Street, Charlestown, MA 02129, USA","institution_ids":["https://openalex.org/I4210087915"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110265364","display_name":"Diane M. McKenna-Yasek","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Diane McKenna-Yasek","raw_affiliation_strings":["Cecil B. Day Laboratory for Neuromuscular Research, Massachusetts General Hospital East, Room 3125, Building 114, 16th Street, Charlestown, MA 02129, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cecil B. Day Laboratory for Neuromuscular Research, Massachusetts General Hospital East, Room 3125, Building 114, 16th Street, Charlestown, MA 02129, USA","institution_ids":["https://openalex.org/I4210087915"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5025571618","display_name":"Robert H. Brown","orcid":"https://orcid.org/0000-0001-6062-1528","observed_orcids":["https://orcid.org/0000-0001-6062-1528"]},"institutions":[{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Robert H. Brown","raw_affiliation_strings":["Cecil B. Day Laboratory for Neuromuscular Research, Massachusetts General Hospital East, Room 3125, Building 114, 16th Street, Charlestown, MA 02129, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cecil B. Day Laboratory for Neuromuscular Research, Massachusetts General Hospital East, Room 3125, Building 114, 16th Street, Charlestown, MA 02129, USA","institution_ids":["https://openalex.org/I4210087915"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5075135713"],"corresponding_institution_ids":["https://openalex.org/I146500386","https://openalex.org/I4210087915"],"apc_list":{"value":3430,"currency":"USD","value_usd":3430},"apc_paid":null,"fwci":0.575,"has_fulltext":false,"cited_by_count":12,"citation_normalized_percentile":{"value":0.58572428,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":94},"biblio":{"volume":"325","issue":"1","first_page":"57","last_page":"61"},"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/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"}},{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/hereditary-spastic-paraplegia","display_name":"hereditary spastic paraplegia","score":0.9779999852180481},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.656000018119812},{"id":"https://openalex.org/keywords/splice-acceptor-site-mutation","display_name":"splice acceptor site mutation","score":0.8769999742507935},{"id":"https://openalex.org/keywords/cryptic-splice-site","display_name":"cryptic splice site","score":0.9319999814033508},{"id":"https://openalex.org/keywords/aberrant-transcripts","display_name":"aberrant transcripts","score":0.8410000205039978},{"id":"https://openalex.org/keywords/frameshift-mutation","display_name":"frameshift mutation","score":0.7870000004768372},{"id":"https://openalex.org/keywords/premature-truncation","display_name":"premature truncation","score":0.7680000066757202},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.9679999947547913},{"id":"https://openalex.org/keywords/chromosome-2p","display_name":"chromosome 2p","score":0.6990000009536743}],"concepts":[{"id":"https://openalex.org/C2780395223","wikidata":"https://www.wikidata.org/wiki/Q657516","display_name":"Hereditary spastic paraplegia","level":4,"score":0.9525207281112671},{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.8448155522346497},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6174597144126892},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5090667605400085},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4715445339679718},{"id":"https://openalex.org/C62257209","wikidata":"https://www.wikidata.org/wiki/Q5487490","display_name":"Splice site mutation","level":5,"score":0.45187729597091675},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3983449637889862},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.2556762099266052},{"id":"https://openalex.org/C194583182","wikidata":"https://www.wikidata.org/wiki/Q21114084","display_name":"Alternative splicing","level":4,"score":0.14008134603500366},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.09241342544555664}],"mesh":[{"descriptor_ui":"D000074181","descriptor_name":"Spastin","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000251","descriptor_name":"Adenosine Triphosphatases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002135","descriptor_name":"Calcium-Binding Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002889","descriptor_name":"Chromosomes, Human, Pair 2","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"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":"D007438","descriptor_name":"Introns","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":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010264","descriptor_name":"Paraplegia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016368","descriptor_name":"Frameshift Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D022821","descriptor_name":"RNA Splice Sites","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1016/s0304-3940(02)00239-2","doi":"https://doi.org/10.1016/s0304-3940(02)00239-2","is_oa":false,"landing_page_url":"https://doi.org/10.1016/s0304-3940(02)00239-2","pdf_url":null,"source":{"id":"https://openalex.org/S203050076","display_name":"Neuroscience Letters","issn_l":"0304-3940","issn":["0304-3940","1872-7972"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","medline","poland-70","russia-white-list-2","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":"Neuroscience Letters","raw_type":"journal-article"},{"id":"pmid:12023066","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12023066","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":"Neuroscience letters","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.8560000061988831}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G1456141739","display_name":"MULTICENTER CLINICAL STUDY OF ALS GENETICS","funder_award_id":"R01NS037912","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G8121766383","display_name":"OXIDATIVE AND EXCITATORY TOXICITY IN NEURODEGENERATION","funder_award_id":"P01AG012992","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"}],"funders":[{"id":"https://openalex.org/F4320337337","display_name":"National Institute on Aging","ror":"https://ror.org/049v75w11"},{"id":"https://openalex.org/F4320337359","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":21,"referenced_works":["https://openalex.org/W1498629854","https://openalex.org/W1964727739","https://openalex.org/W1969271968","https://openalex.org/W1984564356","https://openalex.org/W2001558134","https://openalex.org/W2014714954","https://openalex.org/W2014968381","https://openalex.org/W2032835120","https://openalex.org/W2033178883","https://openalex.org/W2056512881","https://openalex.org/W2068619217","https://openalex.org/W2081394676","https://openalex.org/W2082908799","https://openalex.org/W2094033939","https://openalex.org/W2094833491","https://openalex.org/W2107911550","https://openalex.org/W2110378485","https://openalex.org/W2127811626","https://openalex.org/W2147608600","https://openalex.org/W2165392243","https://openalex.org/W2464045078"],"related_works":["https://openalex.org/W4402925450","https://openalex.org/W1966712298","https://openalex.org/W1985383166","https://openalex.org/W2037589106","https://openalex.org/W2092652836","https://openalex.org/W2411020215","https://openalex.org/W4389446900","https://openalex.org/W4389467222","https://openalex.org/W7017935983","https://openalex.org/W2079287170"],"abstract_inverted_index":null,"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2016,"cited_by_count":1}],"updated_date":"2026-11-01T11:40:01.658920","created_date":"2016-06-24T00:00:00"}