Publication Information

{'id': 'https://openalex.org/W2082306524', 'doi': 'https://doi.org/10.1111/j.1750-3639.2004.tb00499.x', 'title': 'Current State of Clinical and Morphological Features in Human NCL', 'display_name': 'Current State of Clinical and Morphological Features in Human NCL', 'publication_year': 2004, 'publication_date': '2004-01-01', 'ids': {'openalex': 'https://openalex.org/W2082306524', 'doi': 'https://doi.org/10.1111/j.1750-3639.2004.tb00499.x', 'mag': '2082306524', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/14997938', 'pmcid': 'https://www.ncbi.nlm.nih.gov/pmc/articles/8095868'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://doi.org/10.1111/j.1750-3639.2004.tb00499.x', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S9094144', 'display_name': 'Brain Pathology', 'issn_l': '1015-6305', 'issn': ['1015-6305', '1750-3639'], 'is_oa': True, 'is_in_doaj': True, 'is_core': True, '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': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, 'type': 'review', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', 'pubmed'], 'open_access': {'is_oa': True, 'oa_status': 'green', 'oa_url': 'https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8095868', 'any_repository_has_fulltext': True}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5084051379', 'display_name': 'Hans H. Goebel', 'orcid': 'https://orcid.org/0000-0002-7454-6212'}, 'institutions': [{'id': 'https://openalex.org/I197323543', 'display_name': 'Johannes Gutenberg University Mainz', 'ror': 'https://ror.org/023b0x485', 'country_code': 'DE', 'type': 'education', 'lineage': ['https://openalex.org/I197323543']}], 'countries': ['DE'], 'is_corresponding': False, 'raw_author_name': 'Hans H Goebel', 'raw_affiliation_strings': ['Department of Neuropathology, Johannes Gutenberg University, Mainz, Germany,'], 'affiliations': [{'raw_affiliation_string': 'Department of Neuropathology, Johannes Gutenberg University, Mainz, Germany,', 'institution_ids': ['https://openalex.org/I197323543']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5111439652', 'display_name': 'Krystyna E. Wisniewski', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I2801410662', 'display_name': 'New York State Office for People With Developmental Disabilities', 'ror': 'https://ror.org/00b6kjb41', 'country_code': 'US', 'type': 'government', 'lineage': ['https://openalex.org/I2801410662']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Krystyna E. Wisniewski', 'raw_affiliation_strings': ['The New York State Institute for Basic Research in Developmental Disabilities, Department of Developmental Neurobiology, Staten isaland, NY.'], 'affiliations': [{'raw_affiliation_string': 'The New York State Institute for Basic Research in Developmental Disabilities, Department of Developmental Neurobiology, Staten isaland, NY.', 'institution_ids': ['https://openalex.org/I2801410662']}]}], 'institution_assertions': [], 'countries_distinct_count': 2, 'institutions_distinct_count': 2, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': {'value': 3500, 'currency': 'USD', 'value_usd': 3500, 'provenance': 'doaj'}, 'apc_paid': None, 'fwci': 2.607, 'has_fulltext': True, 'fulltext_origin': 'ngrams', 'cited_by_count': 179, 'citation_normalized_percentile': {'value': 0.998973, 'is_in_top_1_percent': True, 'is_in_top_10_percent': True}, 'cited_by_percentile_year': {'min': 98, 'max': 99}, 'biblio': {'volume': '14', 'issue': '1', 'first_page': '61', 'last_page': '69'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T10945', 'display_name': 'Lysosomal Storage Disorders Research', 'score': 1.0, 'subfield': {'id': 'https://openalex.org/subfields/2737', 'display_name': 'Physiology'}, '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': 1.0, 'subfield': {'id': 'https://openalex.org/subfields/2737', 'display_name': 'Physiology'}, '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/T10617', 'display_name': 'Cellular transport and secretion', 'score': 0.9966, 'subfield': {'id': 'https://openalex.org/subfields/1307', 'display_name': 'Cell 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/T10835', 'display_name': 'Carbohydrate Chemistry and Synthesis', 'score': 0.9938, 'subfield': {'id': 'https://openalex.org/subfields/1605', 'display_name': 'Organic Chemistry'}, 'field': {'id': 'https://openalex.org/fields/16', 'display_name': 'Chemistry'}, 'domain': {'id': 'https://openalex.org/domains/3', 'display_name': 'Physical Sciences'}}], 'keywords': [{'id': 'https://openalex.org/keywords/neuronal-ceroid-lipofuscinosis', 'display_name': 'Neuronal ceroid lipofuscinosis', 'score': 0.5107217}], 'concepts': [{'id': 'https://openalex.org/C127716648', 'wikidata': 'https://www.wikidata.org/wiki/Q104053', 'display_name': 'Phenotype', 'level': 3, 'score': 0.57067484}, {'id': 'https://openalex.org/C2778650512', 'wikidata': 'https://www.wikidata.org/wiki/Q4358039', 'display_name': 'Neuronal ceroid lipofuscinosis', 'level': 3, 'score': 0.5107217}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.4477824}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.44697368}, {'id': 'https://openalex.org/C142724271', 'wikidata': 'https://www.wikidata.org/wiki/Q7208', 'display_name': 'Pathology', 'level': 1, 'score': 0.433676}, {'id': 'https://openalex.org/C2778186239', 'wikidata': 'https://www.wikidata.org/wiki/Q41571', 'display_name': 'Epilepsy', 'level': 2, 'score': 0.42719907}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.34403485}, {'id': 'https://openalex.org/C169760540', 'wikidata': 'https://www.wikidata.org/wiki/Q207011', 'display_name': 'Neuroscience', 'level': 1, 'score': 0.30173004}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.25886792}], 'mesh': [{'descriptor_ui': 'D009472', 'descriptor_name': 'Neuronal Ceroid-Lipofuscinoses', 'qualifier_ui': 'Q000145', 'qualifier_name': 'classification', 'is_major_topic': True}, {'descriptor_ui': 'D000328', 'descriptor_name': 'Adult', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D017668', 'descriptor_name': 'Age of Onset', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002648', 'descriptor_name': 'Child', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002675', 'descriptor_name': 'Child, Preschool', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006801', 'descriptor_name': 'Humans', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002479', 'descriptor_name': 'Inclusion Bodies', 'qualifier_ui': 'Q000648', 'qualifier_name': 'ultrastructure', 'is_major_topic': False}, {'descriptor_ui': 'D007223', 'descriptor_name': 'Infant', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D009154', 'descriptor_name': 'Mutation', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D000091346', 'descriptor_name': 'Tripeptidyl-Peptidase 1', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 3, 'locations': [{'is_oa': False, 'landing_page_url': 'https://doi.org/10.1111/j.1750-3639.2004.tb00499.x', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S9094144', 'display_name': 'Brain Pathology', 'issn_l': '1015-6305', 'issn': ['1015-6305', '1750-3639'], 'is_oa': True, 'is_in_doaj': True, 'is_core': True, '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': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, {'is_oa': True, 'landing_page_url': 'https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8095868', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S2764455111', 'display_name': 'PubMed Central', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National Institutes of Health'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/14997938', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4306525036', 'display_name': 'PubMed', 'issn_l': None, 'issn': None, 'is_oa': False, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National Institutes of Health'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}], 'best_oa_location': {'is_oa': True, 'landing_page_url': 'https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8095868', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S2764455111', 'display_name': 'PubMed Central', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National Institutes of Health'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'sustainable_development_goals': [{'id': 'https://metadata.un.org/sdg/3', 'display_name': 'Good health and well-being', 'score': 0.62}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 41, 'referenced_works': ['https://openalex.org/W117537364', 'https://openalex.org/W1542464959', 'https://openalex.org/W1682781401', 'https://openalex.org/W189736520', 'https://openalex.org/W1963921452', 'https://openalex.org/W1967188254', 'https://openalex.org/W1977206684', 'https://openalex.org/W1984927769', 'https://openalex.org/W1988967065', 'https://openalex.org/W1990911694', 'https://openalex.org/W1992101477', 'https://openalex.org/W2007071486', 'https://openalex.org/W2007530713', 'https://openalex.org/W2009725600', 'https://openalex.org/W2020272544', 'https://openalex.org/W2020278806', 'https://openalex.org/W2041358572', 'https://openalex.org/W2043783012', 'https://openalex.org/W2047651404', 'https://openalex.org/W2056614663', 'https://openalex.org/W2063916497', 'https://openalex.org/W2064114351', 'https://openalex.org/W2068691413', 'https://openalex.org/W2071618880', 'https://openalex.org/W2073924233', 'https://openalex.org/W2074696689', 'https://openalex.org/W2077099945', 'https://openalex.org/W2077809468', 'https://openalex.org/W2079088076', 'https://openalex.org/W2081661793', 'https://openalex.org/W2093431846', 'https://openalex.org/W2136606876', 'https://openalex.org/W2139680553', 'https://openalex.org/W2142623488', 'https://openalex.org/W2147439920', 'https://openalex.org/W2166500502', 'https://openalex.org/W2417372135', 'https://openalex.org/W2744955917', 'https://openalex.org/W32417562', 'https://openalex.org/W648616976', 'https://openalex.org/W87434892'], 'related_works': ['https://openalex.org/W4388090985', 'https://openalex.org/W3097153535', 'https://openalex.org/W3016158054', 'https://openalex.org/W2802335767', 'https://openalex.org/W2773633178', 'https://openalex.org/W2395385109', 'https://openalex.org/W2356350882', 'https://openalex.org/W2275559830', 'https://openalex.org/W2080101436', 'https://openalex.org/W1545074592'], 'abstract_inverted_index': {'The': [0, 138], 'neuronal': [1], 'ceroid': [2], 'lipofuscinoses': [3], '(NCL)': [4, 25], 'are': [5, 198], 'large': [6], 'group': [7], 'of': [8, 24, 85, 102, 148, 173, 184], 'autosomal': [9], 'recessive': [10], 'lysosomal': [11, 144, 174, 185], 'storage': [12, 175, 186], 'disorders': [13], 'with': [14, 54, 72, 113], 'both': [15], 'enzymatic': [16, 156], 'deficiency': [17], 'and': [18, 49, 59, 65, 104, 141, 158, 171, 182], 'structural': [19], 'protein': [20, 146], 'dysfunction.': [21], 'Previously,': [22], 'diagnosis': [23, 147], 'was': [26], 'based': [27, 151], 'on': [28, 152], 'age': [29], 'at': [30], 'onset': [31], 'clinicopathological': [32, 153], '(C‐P)': [33], 'findings': [34], 'described': [35], '4': [36, 90], 'forms,': [37], 'classified': [38], 'as': [39, 110], 'infantile': [40], '(INCL)': [41], '(2),': [42], 'late‐infantile': [43], '(LINCL)': [44], '(5),': [45], 'juvenile': [46], '(JNCL)': [47], '(6),': [48], 'adult': [50], '(ANCL)': [51], 'most': [52], 'patients': [53, 71], 'NCL': [55, 86, 118, 149], 'have': [56, 93], 'progressive': [57], 'ocular': [58], 'cerebral': [60], 'dysfunvtion,': [61], 'including': [62], 'cognitive/motor': [63], 'dysfunction': [64], 'uncontrolled': [66], 'seizures.': [67], 'After': [68], 'reviewing': [69], '520': [70], 'NCL,': [73], 'we': [74], 'found': [75], 'that': [76], 'about': [77], '104': [78], '(20%)': [79], 'did': [80], 'not': [81], 'fit': [82], 'this': [83], 'classification': [84], 'With': [87], 'further': [88], 'research,': [89], 'additional': [91], 'forms': [92, 119], 'been': [94], 'recognized:': [95], 'Finnish': [96], '(13),': [97], 'Gypsy/Indian': [98], '(14),': [99], 'Turkish': [100], '(15)—varoamts': [101], 'LINCL,': [103], 'Northern': [105], 'epilepsy': [106, 112], '(16),': [107], 'also': [108], 'known': [109], 'progressove': [111], 'mental': [114], 'retaedation.': [115], 'These': [116], 'eight': [117], 'resulted': [120], 'from': [121], '151': [122], 'diffeent': [123], 'mutations': [124], 'in': [125], 'genes': [126, 139], 'CLN1': [127, 140], 'to': [128, 167], 'CLN8': [129], 'causing': [130], 'different': [131], 'phenotypes': [132], '(': [133], 'http://www.ucl.ac.uk/ncl': [134, 135], ')': [136], '.': [137], 'CLN2': [142], 'encode': [143], 'palmitoyl': [145], 'is': [150], '(c‐p)': [154], 'findings,': [155], 'assay,': [157], 'molecular': [159], 'genetic': [160], 'testing.': [161, 194], 'Ultrastructural': [162], 'studies': [163, 197], 'must': [164], 'be': [165], 'performed': [166], 'confirm': [168], 'the': [169], 'presence': [170, 181], 'nature': [172, 183], 'material': [176], '(fingerprint': [177], 'or': [178, 187], 'curvilinear': [179], 'profiles': [180], 'granular': [188], 'osmiophilic': [189], 'deposits)': [190], 'before': [191], 'doing': [192], 'biochemical': [193], 'Pheno/genotypic': [195], 'correlation': [196], 'discussed.': [199]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2082306524', 'counts_by_year': [{'year': 2024, 'cited_by_count': 2}, {'year': 2023, 'cited_by_count': 1}, {'year': 2022, 'cited_by_count': 3}, {'year': 2021, 'cited_by_count': 3}, {'year': 2020, 'cited_by_count': 1}, {'year': 2019, 'cited_by_count': 7}, {'year': 2018, 'cited_by_count': 2}, {'year': 2017, 'cited_by_count': 3}, {'year': 2016, 'cited_by_count': 7}, {'year': 2015, 'cited_by_count': 2}, {'year': 2014, 'cited_by_count': 12}, {'year': 2013, 'cited_by_count': 12}, {'year': 2012, 'cited_by_count': 23}], 'updated_date': '2024-12-10T08:21:35.647301', 'created_date': '2016-06-24'}