Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W3164932426', 'doi': 'https://doi.org/10.1212/wnl.0000000000012264', 'title': 'Teaching Video NeuroImage: New <i>STUB1</i> Variant Causes Chorea, Tremor, Dystonia, Myoclonus, Ataxia, Depression, Cognitive Impairment, Epilepsy, and Superficial Siderosis', 'display_name': 'Teaching Video NeuroImage: New <i>STUB1</i> Variant Causes Chorea, Tremor, Dystonia, Myoclonus, Ataxia, Depression, Cognitive Impairment, Epilepsy, and Superficial Siderosis', 'publication_year': 2021, 'publication_date': '2021-05-26', 'ids': {'openalex': 'https://openalex.org/W3164932426', 'doi': 'https://doi.org/10.1212/wnl.0000000000012264', 'mag': '3164932426', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/34039728'}, 'language': 'en', 'primary_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1212/wnl.0000000000012264', 'pdf_url': 'https://n.neurology.org/content/neurology/97/17/e1749.full.pdf', 'source': {'id': 'https://openalex.org/S79704628', 'display_name': 'Neurology', 'issn_l': '0028-3878', 'issn': ['0028-3878', '1526-632X'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310315671', 'host_organization_name': 'Lippincott Williams & Wilkins', 'host_organization_lineage': ['https://openalex.org/P4310315671', 'https://openalex.org/P4310318547'], 'host_organization_lineage_names': ['Lippincott Williams & Wilkins', 'Wolters Kluwer'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'type': 'article', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', 'pubmed'], 'open_access': {'is_oa': True, 'oa_status': 'bronze', 'oa_url': 'https://n.neurology.org/content/neurology/97/17/e1749.full.pdf', 'any_repository_has_fulltext': False}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5076423282', 'display_name': 'Carsten Saft', 'orcid': 'https://orcid.org/0000-0002-3983-7292'}, 'institutions': [{'id': 'https://openalex.org/I4210112654', 'display_name': 'Universitätsklinikum Knappschaftskrankenhaus Bochum', 'ror': 'https://ror.org/024j3hn90', 'country_code': 'DE', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2799784675', 'https://openalex.org/I4210112654']}, {'id': 'https://openalex.org/I8087733', 'display_name': 'University of Tübingen', 'ror': 'https://ror.org/03a1kwz48', 'country_code': 'DE', 'type': 'education', 'lineage': ['https://openalex.org/I8087733']}, {'id': 'https://openalex.org/I4210138993', 'display_name': 'St. Josef-Hospital', 'ror': 'https://ror.org/046vare28', 'country_code': 'DE', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2799784675', 'https://openalex.org/I4210138993', 'https://openalex.org/I4210153564']}, {'id': 'https://openalex.org/I904495901', 'display_name': 'Ruhr University Bochum', 'ror': 'https://ror.org/04tsk2644', 'country_code': 'DE', 'type': 'education', 'lineage': ['https://openalex.org/I904495901']}], 'countries': ['DE'], 'is_corresponding': False, 'raw_author_name': 'Carsten Saft', 'raw_affiliation_strings': ['Department of Human Genetics (H.P.N.), Ruhr-University of Bochum', 'Department of Neurology (S.S.), Knappschaftskrankenhaus', 'From the Department of Neurology (C.S.), Huntington-Centre NRW, St. Josef Hospital; Department of Neurology (S.S.), Knappschaftskrankenhaus; Department of Human Genetics (H.P.N.), Ruhr-University of Bochum; and Institute of Medical Genetics and Applied Genomics (J.P., T.B.H.), University of Tübingen, Germany.'], 'affiliations': [{'raw_affiliation_string': 'From the Department of Neurology (C.S.), Huntington-Centre NRW, St. Josef Hospital; Department of Neurology (S.S.), Knappschaftskrankenhaus; Department of Human Genetics (H.P.N.), Ruhr-University of Bochum; and Institute of Medical Genetics and Applied Genomics (J.P., T.B.H.), University of Tübingen, Germany.', 'institution_ids': ['https://openalex.org/I4210112654', 'https://openalex.org/I8087733', 'https://openalex.org/I4210138993']}, {'raw_affiliation_string': 'Department of Human Genetics (H.P.N.), Ruhr-University of Bochum', 'institution_ids': ['https://openalex.org/I904495901']}, {'raw_affiliation_string': 'Department of Neurology (S.S.), Knappschaftskrankenhaus', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5069423028', 'display_name': 'Sabine Skodda', 'orcid': 'https://orcid.org/0000-0002-2628-5660'}, 'institutions': [{'id': 'https://openalex.org/I904495901', 'display_name': 'Ruhr University Bochum', 'ror': 'https://ror.org/04tsk2644', 'country_code': 'DE', 'type': 'education', 'lineage': ['https://openalex.org/I904495901']}, {'id': 'https://openalex.org/I4210112654', 'display_name': 'Universitätsklinikum Knappschaftskrankenhaus Bochum', 'ror': 'https://ror.org/024j3hn90', 'country_code': 'DE', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2799784675', 'https://openalex.org/I4210112654']}, {'id': 'https://openalex.org/I8087733', 'display_name': 'University of Tübingen', 'ror': 'https://ror.org/03a1kwz48', 'country_code': 'DE', 'type': 'education', 'lineage': ['https://openalex.org/I8087733']}, {'id': 'https://openalex.org/I4210138993', 'display_name': 'St. Josef-Hospital', 'ror': 'https://ror.org/046vare28', 'country_code': 'DE', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2799784675', 'https://openalex.org/I4210138993', 'https://openalex.org/I4210153564']}], 'countries': ['DE'], 'is_corresponding': False, 'raw_author_name': 'Sabine Skodda', 'raw_affiliation_strings': ['Department of Human Genetics (H.P.N.), Ruhr-University of Bochum', 'Department of Neurology (S.S.), Knappschaftskrankenhaus', 'From the Department of Neurology (C.S.), Huntington-Centre NRW, St. Josef Hospital; Department of Neurology (S.S.), Knappschaftskrankenhaus; Department of Human Genetics (H.P.N.), Ruhr-University of Bochum; and Institute of Medical Genetics and Applied Genomics (J.P., T.B.H.), University of Tübingen, Germany.'], 'affiliations': [{'raw_affiliation_string': 'Department of Human Genetics (H.P.N.), Ruhr-University of Bochum', 'institution_ids': ['https://openalex.org/I904495901']}, {'raw_affiliation_string': 'Department of Neurology (S.S.), Knappschaftskrankenhaus', 'institution_ids': []}, {'raw_affiliation_string': 'From the Department of Neurology (C.S.), Huntington-Centre NRW, St. Josef Hospital; Department of Neurology (S.S.), Knappschaftskrankenhaus; Department of Human Genetics (H.P.N.), Ruhr-University of Bochum; and Institute of Medical Genetics and Applied Genomics (J.P., T.B.H.), University of Tübingen, Germany.', 'institution_ids': ['https://openalex.org/I4210112654', 'https://openalex.org/I8087733', 'https://openalex.org/I4210138993']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5051768163', 'display_name': 'Kazuhiro Nagata', 'orcid': 'https://orcid.org/0000-0001-6139-788X'}, 'institutions': [{'id': 'https://openalex.org/I4210112654', 'display_name': 'Universitätsklinikum Knappschaftskrankenhaus Bochum', 'ror': 'https://ror.org/024j3hn90', 'country_code': 'DE', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2799784675', 'https://openalex.org/I4210112654']}, {'id': 'https://openalex.org/I8087733', 'display_name': 'University of Tübingen', 'ror': 'https://ror.org/03a1kwz48', 'country_code': 'DE', 'type': 'education', 'lineage': ['https://openalex.org/I8087733']}, {'id': 'https://openalex.org/I4210138993', 'display_name': 'St. Josef-Hospital', 'ror': 'https://ror.org/046vare28', 'country_code': 'DE', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2799784675', 'https://openalex.org/I4210138993', 'https://openalex.org/I4210153564']}, {'id': 'https://openalex.org/I904495901', 'display_name': 'Ruhr University Bochum', 'ror': 'https://ror.org/04tsk2644', 'country_code': 'DE', 'type': 'education', 'lineage': ['https://openalex.org/I904495901']}], 'countries': ['DE'], 'is_corresponding': False, 'raw_author_name': 'Huu Phuc Nguyen', 'raw_affiliation_strings': ['Department of Human Genetics (H.P.N.), Ruhr-University of Bochum', 'Department of Neurology (S.S.), Knappschaftskrankenhaus', 'From the Department of Neurology (C.S.), Huntington-Centre NRW, St. Josef Hospital; Department of Neurology (S.S.), Knappschaftskrankenhaus; Department of Human Genetics (H.P.N.), Ruhr-University of Bochum; and Institute of Medical Genetics and Applied Genomics (J.P., T.B.H.), University of Tübingen, Germany.'], 'affiliations': [{'raw_affiliation_string': 'From the Department of Neurology (C.S.), Huntington-Centre NRW, St. Josef Hospital; Department of Neurology (S.S.), Knappschaftskrankenhaus; Department of Human Genetics (H.P.N.), Ruhr-University of Bochum; and Institute of Medical Genetics and Applied Genomics (J.P., T.B.H.), University of Tübingen, Germany.', 'institution_ids': ['https://openalex.org/I4210112654', 'https://openalex.org/I8087733', 'https://openalex.org/I4210138993']}, {'raw_affiliation_string': 'Department of Human Genetics (H.P.N.), Ruhr-University of Bochum', 'institution_ids': ['https://openalex.org/I904495901']}, {'raw_affiliation_string': 'Department of Neurology (S.S.), Knappschaftskrankenhaus', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5100418613', 'display_name': 'Joohyun Park', 'orcid': 'https://orcid.org/0000-0001-7996-5283'}, 'institutions': [{'id': 'https://openalex.org/I4210112654', 'display_name': 'Universitätsklinikum Knappschaftskrankenhaus Bochum', 'ror': 'https://ror.org/024j3hn90', 'country_code': 'DE', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2799784675', 'https://openalex.org/I4210112654']}, {'id': 'https://openalex.org/I8087733', 'display_name': 'University of Tübingen', 'ror': 'https://ror.org/03a1kwz48', 'country_code': 'DE', 'type': 'education', 'lineage': ['https://openalex.org/I8087733']}, {'id': 'https://openalex.org/I4210138993', 'display_name': 'St. Josef-Hospital', 'ror': 'https://ror.org/046vare28', 'country_code': 'DE', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2799784675', 'https://openalex.org/I4210138993', 'https://openalex.org/I4210153564']}, {'id': 'https://openalex.org/I904495901', 'display_name': 'Ruhr University Bochum', 'ror': 'https://ror.org/04tsk2644', 'country_code': 'DE', 'type': 'education', 'lineage': ['https://openalex.org/I904495901']}], 'countries': ['DE'], 'is_corresponding': False, 'raw_author_name': 'Joohyun Park', 'raw_affiliation_strings': ['Department of Human Genetics (H.P.N.), Ruhr-University of Bochum', 'Department of Neurology (S.S.), Knappschaftskrankenhaus', 'From the Department of Neurology (C.S.), Huntington-Centre NRW, St. Josef Hospital; Department of Neurology (S.S.), Knappschaftskrankenhaus; Department of Human Genetics (H.P.N.), Ruhr-University of Bochum; and Institute of Medical Genetics and Applied Genomics (J.P., T.B.H.), University of Tübingen, Germany.'], 'affiliations': [{'raw_affiliation_string': 'From the Department of Neurology (C.S.), Huntington-Centre NRW, St. Josef Hospital; Department of Neurology (S.S.), Knappschaftskrankenhaus; Department of Human Genetics (H.P.N.), Ruhr-University of Bochum; and Institute of Medical Genetics and Applied Genomics (J.P., T.B.H.), University of Tübingen, Germany.', 'institution_ids': ['https://openalex.org/I4210112654', 'https://openalex.org/I8087733', 'https://openalex.org/I4210138993']}, {'raw_affiliation_string': 'Department of Human Genetics (H.P.N.), Ruhr-University of Bochum', 'institution_ids': ['https://openalex.org/I904495901']}, {'raw_affiliation_string': 'Department of Neurology (S.S.), Knappschaftskrankenhaus', 'institution_ids': []}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5011228927', 'display_name': 'Tobias B. Haack', 'orcid': 'https://orcid.org/0000-0001-6033-4836'}, 'institutions': [{'id': 'https://openalex.org/I4210112654', 'display_name': 'Universitätsklinikum Knappschaftskrankenhaus Bochum', 'ror': 'https://ror.org/024j3hn90', 'country_code': 'DE', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2799784675', 'https://openalex.org/I4210112654']}, {'id': 'https://openalex.org/I8087733', 'display_name': 'University of Tübingen', 'ror': 'https://ror.org/03a1kwz48', 'country_code': 'DE', 'type': 'education', 'lineage': ['https://openalex.org/I8087733']}, {'id': 'https://openalex.org/I4210138993', 'display_name': 'St. Josef-Hospital', 'ror': 'https://ror.org/046vare28', 'country_code': 'DE', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2799784675', 'https://openalex.org/I4210138993', 'https://openalex.org/I4210153564']}, {'id': 'https://openalex.org/I904495901', 'display_name': 'Ruhr University Bochum', 'ror': 'https://ror.org/04tsk2644', 'country_code': 'DE', 'type': 'education', 'lineage': ['https://openalex.org/I904495901']}], 'countries': ['DE'], 'is_corresponding': False, 'raw_author_name': 'Tobias B. Haack', 'raw_affiliation_strings': ['Department of Human Genetics (H.P.N.), Ruhr-University of Bochum', 'Department of Neurology (S.S.), Knappschaftskrankenhaus', 'From the Department of Neurology (C.S.), Huntington-Centre NRW, St. Josef Hospital; Department of Neurology (S.S.), Knappschaftskrankenhaus; Department of Human Genetics (H.P.N.), Ruhr-University of Bochum; and Institute of Medical Genetics and Applied Genomics (J.P., T.B.H.), University of Tübingen, Germany.'], 'affiliations': [{'raw_affiliation_string': 'From the Department of Neurology (C.S.), Huntington-Centre NRW, St. Josef Hospital; Department of Neurology (S.S.), Knappschaftskrankenhaus; Department of Human Genetics (H.P.N.), Ruhr-University of Bochum; and Institute of Medical Genetics and Applied Genomics (J.P., T.B.H.), University of Tübingen, Germany.', 'institution_ids': ['https://openalex.org/I4210112654', 'https://openalex.org/I8087733', 'https://openalex.org/I4210138993']}, {'raw_affiliation_string': 'Department of Human Genetics (H.P.N.), Ruhr-University of Bochum', 'institution_ids': ['https://openalex.org/I904495901']}, {'raw_affiliation_string': 'Department of Neurology (S.S.), Knappschaftskrankenhaus', 'institution_ids': []}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 4, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': None, 'apc_paid': None, 'fwci': 0.623, 'has_fulltext': True, 'fulltext_origin': 'pdf', 'cited_by_count': 5, 'citation_normalized_percentile': {'value': 0.681629, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 80, 'max': 82}, 'biblio': {'volume': '97', 'issue': '17', 'first_page': None, 'last_page': None}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T10949', 'display_name': 'Molecular Mechanisms of Neurodegenerative Diseases', 'score': 0.9999, '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/T10949', 'display_name': 'Molecular Mechanisms of Neurodegenerative Diseases', 'score': 0.9999, '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/T10919', 'display_name': 'Deep Brain Stimulation for Neurological Disorders', 'score': 0.9989, 'subfield': {'id': 'https://openalex.org/subfields/2728', 'display_name': 'Neurology'}, '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/T10301', 'display_name': 'Mitochondrial Dynamics and Reactive Oxygen Species Regulation', 'score': 0.9984, '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/neuromodulation', 'display_name': 'Neuromodulation', 'score': 0.54074}, {'id': 'https://openalex.org/keywords/movement-disorders', 'display_name': 'Movement disorders', 'score': 0.41175058}], 'concepts': [{'id': 'https://openalex.org/C2778868616', 'wikidata': 'https://www.wikidata.org/wiki/Q1076421', 'display_name': 'Chorea', 'level': 3, 'score': 0.76413447}, {'id': 'https://openalex.org/C2778559928', 'wikidata': 'https://www.wikidata.org/wiki/Q906492', 'display_name': 'Dystonia', 'level': 2, 'score': 0.6186378}, {'id': 'https://openalex.org/C15744967', 'wikidata': 'https://www.wikidata.org/wiki/Q9418', 'display_name': 'Psychology', 'level': 0, 'score': 0.5813251}, {'id': 'https://openalex.org/C2780906641', 'wikidata': 'https://www.wikidata.org/wiki/Q213373', 'display_name': 'Ataxia', 'level': 2, 'score': 0.5300046}, {'id': 'https://openalex.org/C2776538686', 'wikidata': 'https://www.wikidata.org/wiki/Q116275', 'display_name': 'Myoclonus', 'level': 2, 'score': 0.50949985}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.4704408}, {'id': 'https://openalex.org/C2778186239', 'wikidata': 'https://www.wikidata.org/wiki/Q41571', 'display_name': 'Epilepsy', 'level': 2, 'score': 0.44476518}, {'id': 'https://openalex.org/C2778261627', 'wikidata': 'https://www.wikidata.org/wiki/Q2608695', 'display_name': 'Movement disorders', 'level': 3, 'score': 0.41175058}, {'id': 'https://openalex.org/C548259974', 'wikidata': 'https://www.wikidata.org/wiki/Q569965', 'display_name': 'Audiology', 'level': 1, 'score': 0.38595718}, {'id': 'https://openalex.org/C169760540', 'wikidata': 'https://www.wikidata.org/wiki/Q207011', 'display_name': 'Neuroscience', 'level': 1, 'score': 0.34599167}, {'id': 'https://openalex.org/C142724271', 'wikidata': 'https://www.wikidata.org/wiki/Q7208', 'display_name': 'Pathology', 'level': 1, 'score': 0.14986727}, {'id': 'https://openalex.org/C2779134260', 'wikidata': 'https://www.wikidata.org/wiki/Q12136', 'display_name': 'Disease', 'level': 2, 'score': 0.07401201}], 'mesh': [{'descriptor_ui': 'D044767', 'descriptor_name': 'Ubiquitin-Protein Ligases', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D001259', 'descriptor_name': 'Ataxia', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D001259', 'descriptor_name': 'Ataxia', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002819', 'descriptor_name': 'Chorea', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D002819', 'descriptor_name': 'Chorea', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D060825', 'descriptor_name': 'Cognitive Dysfunction', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D060825', 'descriptor_name': 'Cognitive Dysfunction', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D003863', 'descriptor_name': 'Depression', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D003863', 'descriptor_name': 'Depression', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D004421', 'descriptor_name': 'Dystonia', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D004421', 'descriptor_name': 'Dystonia', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D004827', 'descriptor_name': 'Epilepsy', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D004827', 'descriptor_name': 'Epilepsy', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005260', 'descriptor_name': 'Female', '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': 'D008297', 'descriptor_name': 'Male', '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': 'D009207', 'descriptor_name': 'Myoclonus', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D009207', 'descriptor_name': 'Myoclonus', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D010375', 'descriptor_name': 'Pedigree', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D012806', 'descriptor_name': 'Siderosis', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D012806', 'descriptor_name': 'Siderosis', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D014202', 'descriptor_name': 'Tremor', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D014202', 'descriptor_name': 'Tremor', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D044767', 'descriptor_name': 'Ubiquitin-Protein Ligases', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 2, 'locations': [{'is_oa': True, 'landing_page_url': 'https://doi.org/10.1212/wnl.0000000000012264', 'pdf_url': 'https://n.neurology.org/content/neurology/97/17/e1749.full.pdf', 'source': {'id': 'https://openalex.org/S79704628', 'display_name': 'Neurology', 'issn_l': '0028-3878', 'issn': ['0028-3878', '1526-632X'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310315671', 'host_organization_name': 'Lippincott Williams & Wilkins', 'host_organization_lineage': ['https://openalex.org/P4310315671', 'https://openalex.org/P4310318547'], 'host_organization_lineage_names': ['Lippincott Williams & Wilkins', 'Wolters Kluwer'], 'type': 'journal'}, '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/34039728', '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://doi.org/10.1212/wnl.0000000000012264', 'pdf_url': 'https://n.neurology.org/content/neurology/97/17/e1749.full.pdf', 'source': {'id': 'https://openalex.org/S79704628', 'display_name': 'Neurology', 'issn_l': '0028-3878', 'issn': ['0028-3878', '1526-632X'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310315671', 'host_organization_name': 'Lippincott Williams & Wilkins', 'host_organization_lineage': ['https://openalex.org/P4310315671', 'https://openalex.org/P4310318547'], 'host_organization_lineage_names': ['Lippincott Williams & Wilkins', 'Wolters Kluwer'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'sustainable_development_goals': [{'score': 0.82, 'id': 'https://metadata.un.org/sdg/3', 'display_name': 'Good health and well-being'}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 2, 'referenced_works': ['https://openalex.org/W3018555862', 'https://openalex.org/W3044350888'], 'related_works': ['https://openalex.org/W915289567', 'https://openalex.org/W2522804677', 'https://openalex.org/W2418361106', 'https://openalex.org/W2398327304', 'https://openalex.org/W2338846212', 'https://openalex.org/W2317293655', 'https://openalex.org/W2312914507', 'https://openalex.org/W2133739583', 'https://openalex.org/W2125433750', 'https://openalex.org/W1975914924'], 'abstract_inverted_index': {'We': [0], 'present': [1], 'a': [2, 5, 12], 'family': [3, 102], 'with': [4, 38, 41, 57, 80], 'wide': [6], 'range': [7], 'of': [8, 23], 'movement': [9], 'disorders': [10], 'carrying': [11], 'new': [13], 'heterozygous': [14], 'splice': [15], 'variant': [16], 'in': [17, 93, 100], 'STUB1': [18, 98], '(NM\\_005861:c.787-2\\_787del),': [19], 'probably': [20], 'causing': [21], 'skipping': [22], 'exon': [24], '7,': [25], 'as': [26], 'relevant': [27], 'differential': [28], 'diagnosis': [29], 'to': [30, 51], 'Huntington': [31], 'disease.1,2': [32], 'The': [33, 66, 77], 'grandmother': [34, 67], 'and': [35, 63, 70, 84, 86, 113], 'mother': [36, 72], '(improved': [37], 'olanzapine)': [39], 'presented': [40, 79], 'chorea,': [42, 104], 'dystonia': [43], '(also': [44], 'platysma),': [45], 'head': [46], 'tremor,': [47, 90, 105], 'orofacial': [48], 'dyskinesias': [49], '(prior': [50], 'neuroleptics),': [52], 'saccadic': [53], 'eye': [54], 'movements,': [55], 'ataxia': [56], 'cerebellar': [58], 'atrophy': [59], '(Figure),': [60], 'depression,': [61, 81, 109], 'cachexia,': [62], 'cognitive': [64, 110], 'impairment.': [65], 'had': [68, 73], 'epilepsy': [69], 'the': [71], 'superficial': [74, 114], 'siderosis': [75, 115], '(Figure).': [76], 'son': [78], 'left-sided': [82], 'myoclonus': [83], 'ataxia,': [85, 108], 'tremor': [87], 'resembling': [88], 'essential': [89], 'which': [91], 'began': [92], 'childhood,': [94], 'without': [95], 'alcohol': [96], 'sensitivity.': [97], 'mutation': [99], 'this': [101], 'caused': [103], 'dystonia,': [106], 'myoclonus,': [107], 'impairment,': [111], 'epilepsy,': [112], '(Video': [116], '1).': [117]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W3164932426', 'counts_by_year': [{'year': 2024, 'cited_by_count': 1}, {'year': 2023, 'cited_by_count': 2}, {'year': 2022, 'cited_by_count': 2}], 'updated_date': '2024-09-23T20:46:02.278492', 'created_date': '2021-06-07'}