{"id":"https://openalex.org/W155248772","doi":"https://doi.org/10.1089/1043034042431092","title":"Administration of a Replication-Deficient Adeno-Associated Virus Gene Transfer Vector Expressing the Human CLN2 cDNA to the Brain of Children with Late Infantile Neuronal Ceroid Lipofuscinosis","display_name":"Administration of a Replication-Deficient Adeno-Associated Virus Gene Transfer Vector Expressing the Human CLN2 cDNA to the Brain of Children with Late Infantile Neuronal Ceroid Lipofuscinosis","publication_year":2004,"publication_date":"2004-11-01","ids":{"openalex":"https://openalex.org/W155248772","doi":"https://doi.org/10.1089/1043034042431092","mag":"155248772","pmid":"https://pubmed.ncbi.nlm.nih.gov/15610613"},"language":"en","primary_location":{"id":"doi:10.1089/1043034042431092","doi":"https://doi.org/10.1089/1043034042431092","is_oa":false,"landing_page_url":"https://doi.org/10.1089/1043034042431092","pdf_url":null,"source":{"id":"https://openalex.org/S39730559","display_name":"Human Gene Therapy","issn_l":"1043-0342","issn":["1043-0342","1557-7422"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320443","host_organization_name":"Mary Ann Liebert, Inc.","host_organization_lineage":["https://openalex.org/P4310320443","https://openalex.org/P4310320017"],"host_organization_lineage_names":["Mary Ann Liebert, Inc.","SAGE Publishing"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Gene Therapy","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/A5064433832","display_name":"Ronald G. Crystal","orcid":"https://orcid.org/0000-0001-6177-6839","observed_orcids":["https://orcid.org/0000-0001-6177-6839"]},"institutions":[{"id":"https://openalex.org/I205783295","display_name":"Cornell University","ror":"https://ror.org/05bnh6r87","country_code":"US","type":"education","lineage":["https://openalex.org/I205783295"]},{"id":"https://openalex.org/I4387153466","display_name":"Weill Cornell Medicine","ror":"https://ror.org/02r109517","country_code":"US","type":"education","lineage":["https://openalex.org/I205783295","https://openalex.org/I4387153466"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ronald G Crystal","raw_affiliation_strings":["Department of Genetic Medicine, Weill Medical College of Cornell University, New York, NY 10021, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetic Medicine, Weill Medical College of Cornell University, New York, NY 10021, USA","institution_ids":["https://openalex.org/I205783295","https://openalex.org/I4387153466"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075726671","display_name":"Dolan Sondhi","orcid":"https://orcid.org/0000-0002-2218-5910","observed_orcids":["https://orcid.org/0000-0002-2218-5910"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Dolan Sondhi","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001983513","display_name":"Neil R. Hackett","orcid":"https://orcid.org/0009-0006-9184-4437","observed_orcids":["https://orcid.org/0009-0006-9184-4437"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Neil R Hackett","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023263749","display_name":"Stephen M. Kaminsky","orcid":"https://orcid.org/0000-0003-1869-834X","observed_orcids":["https://orcid.org/0000-0003-1869-834X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Stephen M Kaminsky","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050729392","display_name":"Stefan Worgall","orcid":"https://orcid.org/0000-0003-3716-2890","observed_orcids":["https://orcid.org/0000-0003-3716-2890"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Stefan Worgall","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043783211","display_name":"Philip Edwin Stieg","orcid":"https://orcid.org/0000-0002-8414-8277","observed_orcids":["https://orcid.org/0000-0002-8414-8277"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Philip Stieg","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050235191","display_name":"Mark M. Souweidane","orcid":"https://orcid.org/0000-0001-5627-4551","observed_orcids":["https://orcid.org/0000-0001-5627-4551"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Mark Souweidane","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027862633","display_name":"Syed A. Hosain","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Syed Hosain","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000912698","display_name":"Linda Heier","orcid":"https://orcid.org/0000-0001-5519-9326","observed_orcids":["https://orcid.org/0000-0001-5519-9326"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Linda Heier","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002640981","display_name":"Douglas Ballon","orcid":"https://orcid.org/0000-0002-7162-9020","observed_orcids":["https://orcid.org/0000-0002-7162-9020"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Douglas Ballon","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080000364","display_name":"Miles Dinner","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Miles Dinner","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111439652","display_name":"Krystyna E. Wisniewski","orcid":"https://orcid.org/0009-0005-1299-1475","observed_orcids":["https://orcid.org/0009-0005-1299-1475"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Krystyna Wisniewski","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027250646","display_name":"Michael G. Kaplitt","orcid":"https://orcid.org/0000-0002-8979-2459","observed_orcids":["https://orcid.org/0000-0002-8979-2459"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Michael Kaplitt","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111400934","display_name":"Bruce M. Greenwald","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Bruce M Greenwald","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054210153","display_name":"Joy D. Howell","orcid":"https://orcid.org/0009-0000-5127-9003","observed_orcids":["https://orcid.org/0009-0000-5127-9003"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Joy D Howell","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049394023","display_name":"Kristin Strybing","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Kristin Strybing","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012900186","display_name":"Jonathan P. Dyke","orcid":"https://orcid.org/0000-0001-7170-488X","observed_orcids":["https://orcid.org/0000-0001-7170-488X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jonathan Dyke","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5021823169","display_name":"Henning U. Voss","orcid":"https://orcid.org/0000-0003-2811-2074","observed_orcids":["https://orcid.org/0000-0003-2811-2074"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Henning Voss","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":8.7805,"has_fulltext":false,"cited_by_count":128,"citation_normalized_percentile":{"value":0.98360506,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"15","issue":"11","first_page":"1131","last_page":"1154"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9502000212669373,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology (medical)"},"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":0.9502000212669373,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology (medical)"},"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/T10613","display_name":"Virus-based gene therapy research","score":0.04899999871850014,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T10725","display_name":"RNA Interference and Gene Delivery","score":0.00019999999494757503,"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/late-infantile-neuronal-ceroid-lipofuscinosis","display_name":"late infantile neuronal ceroid lipofuscinosis","score":0.9860000014305115},{"id":"https://openalex.org/keywords/adeno-associated-virus-vectors","display_name":"adeno-associated virus vectors","score":0.8109999895095825},{"id":"https://openalex.org/keywords/gene-therapy","display_name":"gene therapy","score":0.777999997138977},{"id":"https://openalex.org/keywords/lysosomal-storage-disorders","display_name":"lysosomal storage disease","score":0.8019999861717224},{"id":"https://openalex.org/keywords/neurodegeneration","display_name":"neurodegeneration","score":0.7509999871253967},{"id":"https://openalex.org/keywords/vector-safety","display_name":"vector safety","score":0.5519999861717224},{"id":"https://openalex.org/keywords/chicken-beta-actin-promoter","display_name":"chicken beta-actin promoter","score":0.7590000033378601}],"concepts":[{"id":"https://openalex.org/C2778107364","wikidata":"https://www.wikidata.org/wiki/Q355989","display_name":"Adeno-associated virus","level":5,"score":0.8371083736419678},{"id":"https://openalex.org/C92087593","wikidata":"https://www.wikidata.org/wiki/Q427389","display_name":"Vector (molecular biology)","level":4,"score":0.6943570971488953},{"id":"https://openalex.org/C187882448","wikidata":"https://www.wikidata.org/wiki/Q283478","display_name":"Complementary DNA","level":3,"score":0.5954868197441101},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5766744613647461},{"id":"https://openalex.org/C159047783","wikidata":"https://www.wikidata.org/wiki/Q7215","display_name":"Virology","level":1,"score":0.5517546534538269},{"id":"https://openalex.org/C111599444","wikidata":"https://www.wikidata.org/wiki/Q213901","display_name":"Genetic enhancement","level":3,"score":0.5491622686386108},{"id":"https://openalex.org/C3018928802","wikidata":"https://www.wikidata.org/wiki/Q83185","display_name":"Gene transfer","level":3,"score":0.5043107271194458},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.48793765902519226},{"id":"https://openalex.org/C12590798","wikidata":"https://www.wikidata.org/wiki/Q3933199","display_name":"Replication (statistics)","level":2,"score":0.463032603263855},{"id":"https://openalex.org/C32470452","wikidata":"https://www.wikidata.org/wiki/Q2298489","display_name":"Viral vector","level":4,"score":0.44026806950569153},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.30419570207595825},{"id":"https://openalex.org/C40767141","wikidata":"https://www.wikidata.org/wiki/Q285697","display_name":"Recombinant DNA","level":3,"score":0.09563013911247253}],"mesh":[{"descriptor_ui":"D000091346","descriptor_name":"Tripeptidyl-Peptidase 1","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000229","descriptor_name":"Dependovirus","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000626","descriptor_name":"Aminopeptidases","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D002522","descriptor_name":"Chlorocebus aethiops","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004152","descriptor_name":"Dipeptidyl-Peptidases and Tripeptidyl-Peptidases","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005822","descriptor_name":"Genetic Vectors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006031","descriptor_name":"Glycosylation","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":"D008957","descriptor_name":"Models, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009472","descriptor_name":"Neuronal Ceroid-Lipofuscinoses","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D010447","descriptor_name":"Peptide Hydrolases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010450","descriptor_name":"Endopeptidases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011446","descriptor_name":"Prospective Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013997","descriptor_name":"Time Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015316","descriptor_name":"Genetic Therapy","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D016366","descriptor_name":"Open Reading Frames","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018014","descriptor_name":"Gene Transfer Techniques","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018076","descriptor_name":"DNA, Complementary","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D051381","descriptor_name":"Rats","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D057057","descriptor_name":"Serine Proteases","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1089/1043034042431092","doi":"https://doi.org/10.1089/1043034042431092","is_oa":false,"landing_page_url":"https://doi.org/10.1089/1043034042431092","pdf_url":null,"source":{"id":"https://openalex.org/S39730559","display_name":"Human Gene Therapy","issn_l":"1043-0342","issn":["1043-0342","1557-7422"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320443","host_organization_name":"Mary Ann Liebert, Inc.","host_organization_lineage":["https://openalex.org/P4310320443","https://openalex.org/P4310320017"],"host_organization_lineage_names":["Mary Ann Liebert, Inc.","SAGE Publishing"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Gene Therapy","raw_type":"journal-article"},{"id":"doi:10.1089/hum.2004.15.1131","doi":"https://doi.org/10.1089/hum.2004.15.1131","is_oa":false,"landing_page_url":"https://doi.org/10.1089/hum.2004.15.1131","pdf_url":null,"source":{"id":"https://openalex.org/S39730559","display_name":"Human Gene Therapy","issn_l":"1043-0342","issn":["1043-0342","1557-7422"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320443","host_organization_name":"Mary Ann Liebert, Inc.","host_organization_lineage":["https://openalex.org/P4310320443","https://openalex.org/P4310320017"],"host_organization_lineage_names":["Mary Ann Liebert, Inc.","SAGE Publishing"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Gene Therapy","raw_type":"journal-article"},{"id":"pmid:15610613","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15610613","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":"Human gene therapy","raw_type":"Clinical Trial"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9922999739646912,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":46,"referenced_works":["https://openalex.org/W126651838","https://openalex.org/W1544361309","https://openalex.org/W1579215839","https://openalex.org/W1587727277","https://openalex.org/W1975017859","https://openalex.org/W1975528602","https://openalex.org/W1980111025","https://openalex.org/W1980888760","https://openalex.org/W1980947880","https://openalex.org/W1981255060","https://openalex.org/W1984183802","https://openalex.org/W1990103843","https://openalex.org/W1991157268","https://openalex.org/W1992776509","https://openalex.org/W1996626361","https://openalex.org/W2004999768","https://openalex.org/W2007105697","https://openalex.org/W2007854533","https://openalex.org/W2011950472","https://openalex.org/W2014010760","https://openalex.org/W2016390889","https://openalex.org/W2020278806","https://openalex.org/W2031146014","https://openalex.org/W2033005054","https://openalex.org/W2033120980","https://openalex.org/W2037000858","https://openalex.org/W2042598793","https://openalex.org/W2043946447","https://openalex.org/W2044010709","https://openalex.org/W2064199560","https://openalex.org/W2073010549","https://openalex.org/W2077654997","https://openalex.org/W2084548862","https://openalex.org/W2101605345","https://openalex.org/W2110574733","https://openalex.org/W2116126342","https://openalex.org/W2137440275","https://openalex.org/W2138096904","https://openalex.org/W2143836588","https://openalex.org/W2151468707","https://openalex.org/W2153042097","https://openalex.org/W2166500502","https://openalex.org/W2313914167","https://openalex.org/W2326819336","https://openalex.org/W2331200973","https://openalex.org/W4234409945"],"related_works":["https://openalex.org/W2084225245","https://openalex.org/W2110746342","https://openalex.org/W2090920097","https://openalex.org/W2106531243","https://openalex.org/W2499295732","https://openalex.org/W7099183639","https://openalex.org/W2081200794","https://openalex.org/W2052224446","https://openalex.org/W2123858283","https://openalex.org/W2074722929"],"abstract_inverted_index":{"Late":[0],"infantile":[1],"neuronal":[2],"ceroid":[3],"lipofuscinosis":[4],"(LINCL)":[5],"is":[6,39,61,95,324],"a":[7,40,45,52,73,273],"fatal":[8],"childhood":[9],"neurodegenerative":[10],"lysosomal":[11],"storage":[12],"disease":[13,42,127,360],"with":[14,35,65,72,111,155,217,256,272,341],"no":[15],"known":[16],"therapy.":[17],"There":[18],"are":[19,69],"estimated":[20],"to":[21,24,86,141,143,248,326,336],"be":[22,139,241,249,288],"200":[23],"300":[25],"children":[26,154],"in":[27,63,80,103,150,308,361],"the":[28,36,58,98,104,107,146,151,161,165,171,186,191,200,202,206,213,225,257,261,266,277,284,293,306,333,337,348,356,359,362],"United":[29],"States":[30],"at":[31],"any":[32],"one":[33],"time":[34],"disease.":[37,262,278],"LINCL":[38,294],"genetic":[41],"resulting":[43],"from":[44,229],"deficiency":[46],"of":[47,91,106,113,116,122,153,160,170,176,185,199,205,260,265,276,283,305,310,332,339,347,358],"tripeptidyl":[48],"peptidase":[49],"I":[50],"(TPP-I),":[51],"proteolytic":[53],"enzyme":[54],"encoded":[55],"by":[56,83],"CLN2,":[57],"gene":[59],"that":[60,77,100,322,345],"mutated":[62],"individuals":[64,238,255,271,340],"LINCL.":[66,156],"The":[67,89,157,232,313],"subjects":[68],"chronically":[70],"ill,":[71],"progressive":[74],"CNS":[75,105,338],"disorder":[76],"invariably":[78],"results":[79],"death,":[81],"typically":[82],"age":[84],"8":[85],"12":[87],"years.":[88],"strategy":[90],"this":[92,131],"clinical":[93,295],"study":[94,234],"based":[96,291],"on":[97,292],"concept":[99],"persistent":[101],"expression":[102,182],"normal":[108],"CLN2":[109,148,215],"cDNA":[110,149,216],"production":[112],"sufficient":[114],"amounts":[115],"TPP-I":[117],"should":[118],"prevent":[119],"further":[120],"loss":[121],"neurons,":[123],"and":[124,144,180,196,210,224,239,298,343],"hence":[125],"limit":[126],"progression.":[128],"To":[129],"assess":[130],"concept,":[132],"an":[133,181,218],"adeno-associated":[134],"virus":[135],"vector":[136,158,311,335,350],"(AAV2CUh-CLN2)":[137],"will":[138,235,240,252,268,287,316,351],"used":[140],"transfer":[142],"express":[145],"human":[147,187,214],"brain":[152,307],"consists":[159],"AAV2":[162],"capsid":[163],"enclosing":[164],"4278-base":[166],"single-stranded":[167],"genome":[168],"consisting":[169],"two":[172,244,319],"inverted":[173],"terminal":[174],"repeats":[175],"AAV":[177],"serotype":[178],"2":[179],"cassette":[183],"composed":[184],"cytomegalovirus":[188],"(CMV)":[189],"enhancer,":[190],"chicken":[192],"beta-actin":[193],"promoter/splice":[194],"donor":[195],"5'":[197],"end":[198,204],"intron,":[201],"3'":[203],"rabbit":[207,230],"P-globin":[208],"intron":[209],"splice":[211],"acceptor,":[212],"optimized":[219],"Kozak":[220],"translation":[221],"initiation":[222],"signal,":[223],"polyadenylation/transcription":[226],"stop":[227],"codon":[228],"3-globin.":[231],"proposed":[233],"include":[236,253,269],"10":[237],"divided":[242],"into":[243],"parts.":[245],"Group":[246,263],"A,":[247],"studied":[250],"first,":[251],"four":[254],"severe":[258],"form":[259,275],"B":[264],"trial":[267],"six":[270],"moderate":[274],"After":[279],"direct":[280,329],"intracranial":[281,330],"administration":[282,331,346],"vector,":[285],"there":[286],"neurological":[289],"assessment":[290,304],"rating":[296],"scale":[297],"magnetic":[299],"resonance":[300,302],"imaging/magnetic":[301],"spectroscopy":[303],"regions":[309],"administration.":[312],"data":[314],"generated":[315],"help":[317],"evaluate":[318],"hypotheses:":[320],"(1)":[321],"it":[323],"safe":[325],"carry":[327],"out":[328],"AAV2cuhCLN2":[334,349],"LINCL,":[342],"(2)":[344],"slow":[352],"down":[353],"or":[354],"halt":[355],"progression":[357],"central":[363],"nervous":[364],"system.":[365]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":3},{"year":2023,"cited_by_count":5},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":6},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":5},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":6},{"year":2015,"cited_by_count":3},{"year":2014,"cited_by_count":4},{"year":2013,"cited_by_count":6},{"year":2012,"cited_by_count":6}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}