{"id":"https://openalex.org/W2008201415","doi":"https://doi.org/10.1002/acn3.64","title":"Lysosomal abnormalities in hereditary spastic paraplegia types SPG 15 and SPG 11","display_name":"Lysosomal abnormalities in hereditary spastic paraplegia types SPG 15 and SPG 11","publication_year":2014,"publication_date":"2014-05-20","ids":{"openalex":"https://openalex.org/W2008201415","doi":"https://doi.org/10.1002/acn3.64","mag":"2008201415","pmid":"https://pubmed.ncbi.nlm.nih.gov/24999486","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/4078876"},"language":"en","primary_location":{"id":"doi:10.1002/acn3.64","doi":"https://doi.org/10.1002/acn3.64","is_oa":true,"landing_page_url":"https://doi.org/10.1002/acn3.64","pdf_url":null,"source":{"id":"https://openalex.org/S2764382054","display_name":"Annals of Clinical and Translational Neurology","issn_l":"2328-9503","issn":["2328-9503"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Clinical and Translational Neurology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1002/acn3.64","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5073823610","display_name":"Beno\u00eet Renvois\u00e9","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210110767","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210110767"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Beno\u00eet Renvois\u00e9","raw_affiliation_strings":["Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210110767"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027866858","display_name":"Jaerak Chang","orcid":"https://orcid.org/0000-0003-1732-2076","observed_orcids":["https://orcid.org/0000-0003-1732-2076"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210110767","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210110767"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jaerak Chang","raw_affiliation_strings":["Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210110767"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103279785","display_name":"Rajat Singh","orcid":"https://orcid.org/0000-0002-9542-1929","observed_orcids":["https://orcid.org/0000-0002-9542-1929"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210110767","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210110767"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Rajat Singh","raw_affiliation_strings":["Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210110767"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005207673","display_name":"Sayuri Yonekawa","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I185261750","display_name":"University of Toronto","ror":"https://ror.org/03dbr7087","country_code":"CA","type":"education","lineage":["https://openalex.org/I185261750"]},{"id":"https://openalex.org/I2801317318","display_name":"Hospital for Sick Children","ror":"https://ror.org/057q4rt57","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801317318"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Sayuri Yonekawa","raw_affiliation_strings":["Research Institute, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Institute, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada","institution_ids":["https://openalex.org/I185261750","https://openalex.org/I2801317318"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088345533","display_name":"Edmond J. FitzGibbon","orcid":"https://orcid.org/0000-0001-6855-7540","observed_orcids":["https://orcid.org/0000-0001-6855-7540"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210139686","display_name":"National Eye Institute","ror":"https://ror.org/03wkg3b53","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210139686"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Edmond J. FitzGibbon","raw_affiliation_strings":["Laboratory of Sensorimotor Research, National Eye Institute, National Institutes of Health, Bethesda, Maryland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Sensorimotor Research, National Eye Institute, National Institutes of Health, Bethesda, Maryland","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210139686"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032030924","display_name":"Ami K. Mankodi","orcid":"https://orcid.org/0000-0002-5131-7767","observed_orcids":["https://orcid.org/0000-0002-5131-7767"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210110767","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210110767"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ami Mankodi","raw_affiliation_strings":["Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210110767"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013089390","display_name":"Adeline L. Vanderver","orcid":"https://orcid.org/0000-0002-6290-6751","observed_orcids":["https://orcid.org/0000-0002-6290-6751"]},"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":"Adeline Vanderver","raw_affiliation_strings":["Department of Neurology, Children's National Medical Center, Washington, District of Columbia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Children's National Medical Center, Washington, District of Columbia","institution_ids":["https://openalex.org/I1336742384"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084587492","display_name":"Alice B. Schindler","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210110767","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210110767"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Alice B. Schindler","raw_affiliation_strings":["Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210110767"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016992683","display_name":"Camilo Toro","orcid":"https://orcid.org/0000-0002-3917-9031","observed_orcids":["https://orcid.org/0000-0002-3917-9031","https://orcid.org/0000-0003-1242-9018"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210090236","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210090236"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Camilo Toro","raw_affiliation_strings":["NIH Undiagnosed Diseases Program, National Institutes of Health, Office of Rare Diseases Research and National Human Genome Research Institute, Bethesda, Maryland","Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"NIH Undiagnosed Diseases Program, National Institutes of Health, Office of Rare Diseases Research and National Human Genome Research Institute, Bethesda, Maryland","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210090236"]},{"raw_affiliation_string":"Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210090236"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082442398","display_name":"William Allen Gahl","orcid":"https://orcid.org/0000-0002-2494-6752","observed_orcids":["https://orcid.org/0000-0002-2494-6752"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210090236","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210090236"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"William A. Gahl","raw_affiliation_strings":["NIH Undiagnosed Diseases Program, National Institutes of Health, Office of Rare Diseases Research and National Human Genome Research Institute, Bethesda, Maryland","Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"NIH Undiagnosed Diseases Program, National Institutes of Health, Office of Rare Diseases Research and National Human Genome Research Institute, Bethesda, Maryland","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210090236"]},{"raw_affiliation_string":"Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210090236"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076675090","display_name":"Don J. Mahuran","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I185261750","display_name":"University of Toronto","ror":"https://ror.org/03dbr7087","country_code":"CA","type":"education","lineage":["https://openalex.org/I185261750"]},{"id":"https://openalex.org/I2801317318","display_name":"Hospital for Sick Children","ror":"https://ror.org/057q4rt57","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801317318"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Don J. Mahuran","raw_affiliation_strings":["Research Institute, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Institute, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada","institution_ids":["https://openalex.org/I185261750","https://openalex.org/I2801317318"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059540944","display_name":"Craig D. Blackstone","orcid":"https://orcid.org/0000-0003-1261-9655","observed_orcids":["https://orcid.org/0000-0003-1261-9655"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210110767","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210110767"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Craig Blackstone","raw_affiliation_strings":["Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210110767"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5042515119","display_name":"Tyler Mark Pierson","orcid":"https://orcid.org/0000-0003-1985-3671","observed_orcids":["https://orcid.org/0000-0003-1985-3671"]},"institutions":[{"id":"https://openalex.org/I1282927834","display_name":"Cedars-Sinai Medical Center","ror":"https://ror.org/02pammg90","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1282927834"]},{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210090236","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210090236"]},{"id":"https://openalex.org/I4210110767","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210110767"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Tyler Mark Pierson","raw_affiliation_strings":["Departments of Pediatrics and Neurology, and the Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, California","NIH Undiagnosed Diseases Program, National Institutes of Health, Office of Rare Diseases Research and National Human Genome Research Institute, Bethesda, Maryland","Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Pediatrics and Neurology, and the Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, California","institution_ids":["https://openalex.org/I1282927834"]},{"raw_affiliation_string":"NIH Undiagnosed Diseases Program, National Institutes of Health, Office of Rare Diseases Research and National Human Genome Research Institute, Bethesda, Maryland","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210090236"]},{"raw_affiliation_string":"Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210110767"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":8,"corresponding_author_ids":["https://openalex.org/A5042515119"],"corresponding_institution_ids":["https://openalex.org/I1282927834","https://openalex.org/I1299303238","https://openalex.org/I4210090236","https://openalex.org/I4210110767"],"apc_list":{"value":4100,"currency":"USD","value_usd":4100},"apc_paid":{"value":4100,"currency":"USD","value_usd":4100},"fwci":3.3034,"has_fulltext":false,"cited_by_count":123,"citation_normalized_percentile":{"value":0.93220244,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":93,"max":99},"biblio":{"volume":"1","issue":"6","first_page":"379","last_page":"389"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.9970999956130981,"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":0.9970999956130981,"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/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.0008999999845400453,"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/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.0005000000237487257,"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/hereditary-spastic-paraplegia","display_name":"hereditary spastic paraplegia","score":0.9950000047683716},{"id":"https://openalex.org/keywords/spg15","display_name":"SPG15","score":0.9980000257492065},{"id":"https://openalex.org/keywords/spg11","display_name":"SPG11","score":0.9980000257492065},{"id":"https://openalex.org/keywords/lysosomal-storage","display_name":"lysosomal storage","score":0.7200000286102295},{"id":"https://openalex.org/keywords/lysosome-trafficking","display_name":"lysosomal trafficking","score":0.6809999942779541},{"id":"https://openalex.org/keywords/spatacsin","display_name":"spatacsin","score":0.9750000238418579},{"id":"https://openalex.org/keywords/lamp1","display_name":"LAMP1","score":0.6589999794960022},{"id":"https://openalex.org/keywords/juvenile-parkinsonism","display_name":"juvenile parkinsonism","score":0.8379999995231628},{"id":"https://openalex.org/keywords/autosomal-recessive-neurodegeneration","display_name":"autosomal recessive neurodegeneration","score":0.7210000157356262}],"concepts":[{"id":"https://openalex.org/C2780395223","wikidata":"https://www.wikidata.org/wiki/Q657516","display_name":"Hereditary spastic paraplegia","level":4,"score":0.8616646528244019},{"id":"https://openalex.org/C2776525014","wikidata":"https://www.wikidata.org/wiki/Q1531991","display_name":"Parkinsonism","level":3,"score":0.6008024215698242},{"id":"https://openalex.org/C2777135640","wikidata":"https://www.wikidata.org/wiki/Q18028463","display_name":"LAMP1","level":4,"score":0.5933651328086853},{"id":"https://openalex.org/C102747710","wikidata":"https://www.wikidata.org/wiki/Q824237","display_name":"Endosome","level":3,"score":0.5241515636444092},{"id":"https://openalex.org/C158617107","wikidata":"https://www.wikidata.org/wiki/Q79927","display_name":"Endoplasmic reticulum","level":2,"score":0.5019426345825195},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4802156388759613},{"id":"https://openalex.org/C2781394247","wikidata":"https://www.wikidata.org/wiki/Q18037179","display_name":"TARDBP","level":5,"score":0.44962838292121887},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.432839572429657},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.42331552505493164},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.4120143949985504},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.38567718863487244},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2145771086215973},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.20868557691574097},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.16187286376953125},{"id":"https://openalex.org/C2779483572","wikidata":"https://www.wikidata.org/wiki/Q83030","display_name":"Dementia","level":3,"score":0.1461254358291626},{"id":"https://openalex.org/C79879829","wikidata":"https://www.wikidata.org/wiki/Q5571762","display_name":"Intracellular","level":2,"score":0.0},{"id":"https://openalex.org/C2778641062","wikidata":"https://www.wikidata.org/wiki/Q18592","display_name":"Frontotemporal dementia","level":4,"score":0.0}],"mesh":[],"locations_count":4,"locations":[{"id":"doi:10.1002/acn3.64","doi":"https://doi.org/10.1002/acn3.64","is_oa":true,"landing_page_url":"https://doi.org/10.1002/acn3.64","pdf_url":null,"source":{"id":"https://openalex.org/S2764382054","display_name":"Annals of Clinical and Translational Neurology","issn_l":"2328-9503","issn":["2328-9503"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Clinical and Translational Neurology","raw_type":"journal-article"},{"id":"pmid:24999486","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24999486","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":"Annals of clinical and translational neurology","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:4078876","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC4078876/","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-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Ann Clin Transl Neurol","raw_type":"Text"},{"id":"pmh:oai:escholarship.org:ark:/13030/qt1qr0r74m","doi":null,"is_oa":true,"landing_page_url":"https://escholarship.org/uc/item/1qr0r74m","pdf_url":null,"source":{"id":"https://openalex.org/S4306400115","display_name":"eScholarship (California Digital Library)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2801248553","host_organization_name":"California Digital Library","host_organization_lineage":["https://openalex.org/I2801248553"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Annals of Clinical and Translational Neurology, vol 1, iss 6","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1002/acn3.64","doi":"https://doi.org/10.1002/acn3.64","is_oa":true,"landing_page_url":"https://doi.org/10.1002/acn3.64","pdf_url":null,"source":{"id":"https://openalex.org/S2764382054","display_name":"Annals of Clinical and Translational Neurology","issn_l":"2328-9503","issn":["2328-9503"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Clinical and Translational Neurology","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9391000270843506,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G6532233042","display_name":"Molecular Pathogenesis Of Hereditary Spastic Paraplegias","funder_award_id":"Z01NS002992","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/F4320334506","display_name":"Canadian Institutes of Health Research","ror":"https://ror.org/01gavpb45"},{"id":"https://openalex.org/F4320337348","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391"},{"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":33,"referenced_works":["https://openalex.org/W1516827048","https://openalex.org/W1876775148","https://openalex.org/W1968349206","https://openalex.org/W1975075811","https://openalex.org/W1975962457","https://openalex.org/W1984098403","https://openalex.org/W1985252531","https://openalex.org/W2001175917","https://openalex.org/W2005406123","https://openalex.org/W2013371339","https://openalex.org/W2023404116","https://openalex.org/W2026360271","https://openalex.org/W2027529539","https://openalex.org/W2031365272","https://openalex.org/W2034226518","https://openalex.org/W2045122763","https://openalex.org/W2045317347","https://openalex.org/W2049825281","https://openalex.org/W2059193878","https://openalex.org/W2090851195","https://openalex.org/W2097556771","https://openalex.org/W2109221324","https://openalex.org/W2111411308","https://openalex.org/W2113977012","https://openalex.org/W2120171294","https://openalex.org/W2134390983","https://openalex.org/W2135756294","https://openalex.org/W2151994539","https://openalex.org/W2153761007","https://openalex.org/W2161432367","https://openalex.org/W2169059319","https://openalex.org/W2320430234","https://openalex.org/W2977931116"],"related_works":["https://openalex.org/W2321246282","https://openalex.org/W4220713718","https://openalex.org/W2753549706","https://openalex.org/W3206180586","https://openalex.org/W7020782331","https://openalex.org/W7100064446","https://openalex.org/W6992728137","https://openalex.org/W7029969827","https://openalex.org/W6959162651","https://openalex.org/W7039332883"],"abstract_inverted_index":{"OBJECTIVE:":[0],"Hereditary":[1],"spastic":[2,35],"paraplegias":[3],"(HSPs)":[4],"are":[5,26,179],"among":[6,182],"the":[7,147,152],"most":[8],"genetically":[9],"diverse":[10],"inherited":[11],"neurological":[12],"disorders,":[13],"with":[14,38,103,189,208],"over":[15],"70":[16],"disease":[17],"loci":[18],"identified":[19],"(SPG1-71)":[20],"to":[21,55,77,165],"date.":[22],"SPG15":[23,65,71,104,148,176],"and":[24,47,66,72,96,111,151,168,177,192],"SPG11":[25,73,134,153,178],"clinically":[27],"similar,":[28],"autosomal":[29],"recessive":[30],"disorders":[31],"characterized":[32],"by":[33,118],"progressive":[34],"paraplegia":[36],"along":[37],"thin":[39],"corpus":[40],"callosum,":[41],"white":[42],"matter":[43],"abnormalities,":[44],"cognitive":[45],"impairment,":[46],"ophthalmologic":[48],"abnormalities.":[49,175],"Furthermore,":[50],"both":[51],"have":[52,105],"been":[53],"linked":[54],"early-onset":[56],"parkinsonism.":[57],"METHODS:":[58],"We":[59],"describe":[60],"two":[61],"new":[62],"cases":[63],"of":[64,108,124,146,205],"investigate":[67],"cellular":[68],"changes":[69],"in":[70,88,130,170],"patient-derived":[74],"fibroblasts,":[75],"seeking":[76],"identify":[78],"shared":[79],"pathogenic":[80],"themes.":[81],"Cells":[82],"were":[83,156],"evaluated":[84],"for":[85,202],"any":[86],"abnormalities":[87],"cell":[89],"division,":[90],"DNA":[91],"repair,":[92],"endoplasmic":[93],"reticulum,":[94],"endosomes,":[95],"lysosomes.":[97],"RESULTS:":[98],"Fibroblasts":[99],"prepared":[100],"from":[101,132],"patients":[102],"selective":[106],"enlargement":[107,123],"LAMP1-positive":[109,125],"structures,":[110],"they":[112,185],"consistently":[113],"exhibited":[114],"abnormal":[115,138],"lysosomal":[116,139,194,209],"storage":[117,140,197],"electron":[119],"microscopy.":[120],"A":[121],"similar":[122,163],"structures":[126],"was":[127,141],"also":[128,187],"observed":[129],"cells":[131,169],"multiple":[133],"patients,":[135],"though":[136],"prominent":[137],"not":[142],"evident.":[143],"The":[144],"stabilities":[145],"protein":[149,154],"spastizin/ZFYVE26":[150],"spatacsin":[155],"interdependent.":[157],"INTERPRETATION:":[158],"-/-":[159],"mice":[160,172],"revealed":[161],"a":[162],"phenotype":[164],"human":[166],"SPG15,":[167],"these":[171],"had":[173],"endolysosomal":[174],"particularly":[180],"notable":[181],"HSPs":[183],"because":[184],"can":[186],"present":[188],"juvenile":[190],"parkinsonism,":[191],"this":[193],"trafficking":[195],"or":[196],"defect":[198],"may":[199],"be":[200],"relevant":[201],"other":[203],"forms":[204],"parkinsonism":[206],"associated":[207],"dysfunction.":[210]},"counts_by_year":[{"year":2026,"cited_by_count":7},{"year":2025,"cited_by_count":10},{"year":2024,"cited_by_count":7},{"year":2023,"cited_by_count":9},{"year":2022,"cited_by_count":15},{"year":2021,"cited_by_count":11},{"year":2020,"cited_by_count":9},{"year":2019,"cited_by_count":15},{"year":2018,"cited_by_count":13},{"year":2017,"cited_by_count":9},{"year":2016,"cited_by_count":11},{"year":2015,"cited_by_count":5},{"year":2014,"cited_by_count":2}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}
