Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W1967263015', 'doi': 'https://doi.org/10.2169/internalmedicine.49.3258', 'title': 'A Japanese Case of Fragile-X-Associated Tremor/ataxia Syndrome (FXTAS)', 'display_name': 'A Japanese Case of Fragile-X-Associated Tremor/ataxia Syndrome (FXTAS)', 'publication_year': 2010, 'publication_date': '2010-01-01', 'ids': {'openalex': 'https://openalex.org/W1967263015', 'doi': 'https://doi.org/10.2169/internalmedicine.49.3258', 'mag': '1967263015', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/20558944'}, 'language': 'en', 'primary_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.2169/internalmedicine.49.3258', 'pdf_url': 'https://www.jstage.jst.go.jp/article/internalmedicine/49/12/49_12_1205/_pdf', 'source': {'id': 'https://openalex.org/S154471048', 'display_name': 'Internal Medicine', 'issn_l': '0918-2918', 'issn': ['0918-2918', '1349-7235'], 'is_oa': True, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310313351', 'host_organization_name': 'The Japanese Society of Internal Medicine', 'host_organization_lineage': ['https://openalex.org/P4310313351'], 'host_organization_lineage_names': ['The Japanese Society of Internal Medicine'], 'type': 'journal'}, 'license': 'other-oa', 'license_id': 'https://openalex.org/licenses/other-oa', '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://www.jstage.jst.go.jp/article/internalmedicine/49/12/49_12_1205/_pdf', 'any_repository_has_fulltext': False}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5072842761', 'display_name': 'Kazuhiro Ishii', 'orcid': 'https://orcid.org/0000-0003-2059-4670'}, 'institutions': [{'id': 'https://openalex.org/I146399215', 'display_name': 'University of Tsukuba', 'ror': 'https://ror.org/02956yf07', 'country_code': 'JP', 'type': 'education', 'lineage': ['https://openalex.org/I146399215']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Kazuhiro Ishii', 'raw_affiliation_strings': ['Department of Neurology, Institute of Clinical Medicine, Majors of Medical Sciences, Graduate School of Comprehensive Human Sciences University of Tsukuba'], 'affiliations': [{'raw_affiliation_string': 'Department of Neurology, Institute of Clinical Medicine, Majors of Medical Sciences, Graduate School of Comprehensive Human Sciences University of Tsukuba', 'institution_ids': ['https://openalex.org/I146399215']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5112337707', 'display_name': 'Ai Hosaka', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I146399215', 'display_name': 'University of Tsukuba', 'ror': 'https://ror.org/02956yf07', 'country_code': 'JP', 'type': 'education', 'lineage': ['https://openalex.org/I146399215']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Ai Hosaka', 'raw_affiliation_strings': ['Department of Neurology, Institute of Clinical Medicine, Majors of Medical Sciences, Graduate School of Comprehensive Human Sciences University of Tsukuba'], 'affiliations': [{'raw_affiliation_string': 'Department of Neurology, Institute of Clinical Medicine, Majors of Medical Sciences, Graduate School of Comprehensive Human Sciences University of Tsukuba', 'institution_ids': ['https://openalex.org/I146399215']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5090333706', 'display_name': 'Kaori Adachi', 'orcid': 'https://orcid.org/0000-0002-2511-7892'}, 'institutions': [{'id': 'https://openalex.org/I4588055', 'display_name': 'Tottori University', 'ror': 'https://ror.org/024yc3q36', 'country_code': 'JP', 'type': 'education', 'lineage': ['https://openalex.org/I4588055']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Kaori Adachi', 'raw_affiliation_strings': ['Research Center for Bioscience and Technology, Tottori University'], 'affiliations': [{'raw_affiliation_string': 'Research Center for Bioscience and Technology, Tottori University', 'institution_ids': ['https://openalex.org/I4588055']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5081055613', 'display_name': 'Eiji Nanba', 'orcid': 'https://orcid.org/0000-0003-1624-984X'}, 'institutions': [{'id': 'https://openalex.org/I4588055', 'display_name': 'Tottori University', 'ror': 'https://ror.org/024yc3q36', 'country_code': 'JP', 'type': 'education', 'lineage': ['https://openalex.org/I4588055']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Eiji Nanba', 'raw_affiliation_strings': ['Research Center for Bioscience and Technology, Tottori University'], 'affiliations': [{'raw_affiliation_string': 'Research Center for Bioscience and Technology, Tottori University', 'institution_ids': ['https://openalex.org/I4588055']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5048873944', 'display_name': 'Akira Tamaoka', 'orcid': 'https://orcid.org/0000-0001-5830-7003'}, 'institutions': [{'id': 'https://openalex.org/I146399215', 'display_name': 'University of Tsukuba', 'ror': 'https://ror.org/02956yf07', 'country_code': 'JP', 'type': 'education', 'lineage': ['https://openalex.org/I146399215']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Akira Tamaoka', 'raw_affiliation_strings': ['Department of Neurology, Institute of Clinical Medicine, Majors of Medical Sciences, Graduate School of Comprehensive Human Sciences University of Tsukuba'], 'affiliations': [{'raw_affiliation_string': 'Department of Neurology, Institute of Clinical Medicine, Majors of Medical Sciences, Graduate School of Comprehensive Human Sciences University of Tsukuba', 'institution_ids': ['https://openalex.org/I146399215']}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 2, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': None, 'apc_paid': None, 'fwci': 0.534, 'has_fulltext': True, 'fulltext_origin': 'pdf', 'cited_by_count': 12, 'citation_normalized_percentile': {'value': 0.713377, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 85, 'max': 86}, 'biblio': {'volume': '49', 'issue': '12', 'first_page': '1205', 'last_page': '1208'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T11772', 'display_name': 'Genetics and Neurodevelopmental Disorders', 'score': 1.0, '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'}}, 'topics': [{'id': 'https://openalex.org/T11772', 'display_name': 'Genetics and Neurodevelopmental Disorders', 'score': 1.0, '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/T10949', 'display_name': 'Genetic Neurodegenerative Diseases', 'score': 0.9907, '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/T10301', 'display_name': 'Mitochondrial Function and Pathology', 'score': 0.9898, '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/intention-tremor', 'display_name': 'Intention tremor', 'score': 0.86542404}, {'id': 'https://openalex.org/keywords/gait-ataxia', 'display_name': 'Gait Ataxia', 'score': 0.84750855}, {'id': 'https://openalex.org/keywords/fmr1', 'display_name': 'FMR1', 'score': 0.8418456}, {'id': 'https://openalex.org/keywords/ataxic-gait', 'display_name': 'Ataxic Gait', 'score': 0.5590272}, {'id': 'https://openalex.org/keywords/fragile-x-syndrome', 'display_name': 'Fragile X Syndrome', 'score': 0.5165226}, {'id': 'https://openalex.org/keywords/cerebellar-ataxia', 'display_name': 'Cerebellar ataxia', 'score': 0.49200198}, {'id': 'https://openalex.org/keywords/movement-disorders', 'display_name': 'Movement Disorders', 'score': 0.43351817}], 'concepts': [{'id': 'https://openalex.org/C2780294739', 'wikidata': 'https://www.wikidata.org/wiki/Q2149420', 'display_name': 'Intention tremor', 'level': 3, 'score': 0.86542404}, {'id': 'https://openalex.org/C2908670167', 'wikidata': 'https://www.wikidata.org/wiki/Q827017', 'display_name': 'Gait Ataxia', 'level': 3, 'score': 0.84750855}, {'id': 'https://openalex.org/C2780906641', 'wikidata': 'https://www.wikidata.org/wiki/Q213373', 'display_name': 'Ataxia', 'level': 2, 'score': 0.8459166}, {'id': 'https://openalex.org/C2779063550', 'wikidata': 'https://www.wikidata.org/wiki/Q905435', 'display_name': 'FMR1', 'level': 4, 'score': 0.8418456}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.79538}, {'id': 'https://openalex.org/C2780112193', 'wikidata': 'https://www.wikidata.org/wiki/Q693519', 'display_name': 'Essential tremor', 'level': 2, 'score': 0.67645335}, {'id': 'https://openalex.org/C2910480946', 'wikidata': 'https://www.wikidata.org/wiki/Q213373', 'display_name': 'Ataxic Gait', 'level': 3, 'score': 0.5590272}, {'id': 'https://openalex.org/C2777630245', 'wikidata': 'https://www.wikidata.org/wiki/Q221472', 'display_name': 'Fragile X syndrome', 'level': 2, 'score': 0.5165226}, {'id': 'https://openalex.org/C2780148635', 'wikidata': 'https://www.wikidata.org/wiki/Q154709', 'display_name': 'Cerebellar ataxia', 'level': 3, 'score': 0.49200198}, {'id': 'https://openalex.org/C151800584', 'wikidata': 'https://www.wikidata.org/wiki/Q2370000', 'display_name': 'Gait', 'level': 2, 'score': 0.4580433}, {'id': 'https://openalex.org/C2778261627', 'wikidata': 'https://www.wikidata.org/wiki/Q2608695', 'display_name': 'Movement disorders', 'level': 3, 'score': 0.43351817}, {'id': 'https://openalex.org/C99508421', 'wikidata': 'https://www.wikidata.org/wiki/Q2678675', 'display_name': 'Physical medicine and rehabilitation', 'level': 1, 'score': 0.3656124}, {'id': 'https://openalex.org/C187212893', 'wikidata': 'https://www.wikidata.org/wiki/Q123028', 'display_name': 'Pediatrics', 'level': 1, 'score': 0.35927963}, {'id': 'https://openalex.org/C548259974', 'wikidata': 'https://www.wikidata.org/wiki/Q569965', 'display_name': 'Audiology', 'level': 1, 'score': 0.32377064}, {'id': 'https://openalex.org/C3020422209', 'wikidata': 'https://www.wikidata.org/wiki/Q221472', 'display_name': 'Fragile x', 'level': 3, 'score': 0.28458846}, {'id': 'https://openalex.org/C118552586', 'wikidata': 'https://www.wikidata.org/wiki/Q7867', 'display_name': 'Psychiatry', 'level': 1, 'score': 0.21842295}, {'id': 'https://openalex.org/C142724271', 'wikidata': 'https://www.wikidata.org/wiki/Q7208', 'display_name': 'Pathology', 'level': 1, 'score': 0.16998154}, {'id': 'https://openalex.org/C2779134260', 'wikidata': 'https://www.wikidata.org/wiki/Q12136', 'display_name': 'Disease', 'level': 2, 'score': 0.065120816}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.05532685}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.0}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.0}], 'mesh': [{'descriptor_ui': 'D044466', 'descriptor_name': 'Asians', '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': True}, {'descriptor_ui': 'D051860', 'descriptor_name': 'Fragile X Mental Retardation Protein', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D005600', 'descriptor_name': 'Fragile X Syndrome', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D014202', 'descriptor_name': 'Tremor', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D000368', 'descriptor_name': 'Aged', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D044466', 'descriptor_name': 'Asians', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D001259', 'descriptor_name': 'Ataxia', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D001259', 'descriptor_name': 'Ataxia', 'qualifier_ui': 'Q000175', 'qualifier_name': 'diagnosis', 'is_major_topic': False}, {'descriptor_ui': 'D001259', 'descriptor_name': 'Ataxia', 'qualifier_ui': 'Q000150', 'qualifier_name': 'complications', 'is_major_topic': False}, {'descriptor_ui': 'D051860', 'descriptor_name': 'Fragile X Mental Retardation Protein', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005600', 'descriptor_name': 'Fragile X Syndrome', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005600', 'descriptor_name': 'Fragile X Syndrome', 'qualifier_ui': 'Q000175', 'qualifier_name': 'diagnosis', 'is_major_topic': False}, {'descriptor_ui': 'D005600', 'descriptor_name': 'Fragile X Syndrome', 'qualifier_ui': 'Q000150', 'qualifier_name': 'complications', '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': 'D014202', 'descriptor_name': 'Tremor', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D014202', 'descriptor_name': 'Tremor', 'qualifier_ui': 'Q000175', 'qualifier_name': 'diagnosis', 'is_major_topic': False}, {'descriptor_ui': 'D014202', 'descriptor_name': 'Tremor', 'qualifier_ui': 'Q000150', 'qualifier_name': 'complications', 'is_major_topic': False}], 'locations_count': 2, 'locations': [{'is_oa': True, 'landing_page_url': 'https://doi.org/10.2169/internalmedicine.49.3258', 'pdf_url': 'https://www.jstage.jst.go.jp/article/internalmedicine/49/12/49_12_1205/_pdf', 'source': {'id': 'https://openalex.org/S154471048', 'display_name': 'Internal Medicine', 'issn_l': '0918-2918', 'issn': ['0918-2918', '1349-7235'], 'is_oa': True, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310313351', 'host_organization_name': 'The Japanese Society of Internal Medicine', 'host_organization_lineage': ['https://openalex.org/P4310313351'], 'host_organization_lineage_names': ['The Japanese Society of Internal Medicine'], 'type': 'journal'}, 'license': 'other-oa', 'license_id': 'https://openalex.org/licenses/other-oa', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/20558944', '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/10.2169/internalmedicine.49.3258', 'pdf_url': 'https://www.jstage.jst.go.jp/article/internalmedicine/49/12/49_12_1205/_pdf', 'source': {'id': 'https://openalex.org/S154471048', 'display_name': 'Internal Medicine', 'issn_l': '0918-2918', 'issn': ['0918-2918', '1349-7235'], 'is_oa': True, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310313351', 'host_organization_name': 'The Japanese Society of Internal Medicine', 'host_organization_lineage': ['https://openalex.org/P4310313351'], 'host_organization_lineage_names': ['The Japanese Society of Internal Medicine'], 'type': 'journal'}, 'license': 'other-oa', 'license_id': 'https://openalex.org/licenses/other-oa', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'sustainable_development_goals': [{'score': 0.77, 'id': 'https://metadata.un.org/sdg/3', 'display_name': 'Good health and well-being'}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 23, 'referenced_works': ['https://openalex.org/W1967230930', 'https://openalex.org/W1970301911', 'https://openalex.org/W1977627907', 'https://openalex.org/W1988498459', 'https://openalex.org/W2000080960', 'https://openalex.org/W2007897212', 'https://openalex.org/W2039031098', 'https://openalex.org/W2051013729', 'https://openalex.org/W2059502738', 'https://openalex.org/W2069954069', 'https://openalex.org/W2076567056', 'https://openalex.org/W2085124069', 'https://openalex.org/W2105322114', 'https://openalex.org/W2110811750', 'https://openalex.org/W2115628281', 'https://openalex.org/W2121184377', 'https://openalex.org/W2129133745', 'https://openalex.org/W2129499122', 'https://openalex.org/W2132429895', 'https://openalex.org/W2138660056', 'https://openalex.org/W2151282569', 'https://openalex.org/W2171008169', 'https://openalex.org/W2172060655'], 'related_works': ['https://openalex.org/W65500860', 'https://openalex.org/W2790746737', 'https://openalex.org/W2775035718', 'https://openalex.org/W2552177309', 'https://openalex.org/W2144550671', 'https://openalex.org/W2137802284', 'https://openalex.org/W2101692941', 'https://openalex.org/W2074580339', 'https://openalex.org/W203581981', 'https://openalex.org/W1967263015'], 'abstract_inverted_index': {'A': [0], '71-year-old': [1], 'man': [2], 'developed': [3, 21], 'postural': [4], 'tremor': [5, 12, 18, 34, 84, 87], 'and': [6, 32, 41], 'was': [7], 'treated': [8], 'as': [9], 'an': [10], 'essential': [11, 86], 'patient.': [13], 'Nine': [14], 'years': [15], 'after': [16], 'the': [17, 36, 47, 57, 64, 71, 89, 99], 'onset,': [19], 'he': [20], 'symptoms': [22, 79], 'resembling': [23, 85], 'Fragile-X-associated': [24], 'tremor/ataxia': [25], 'syndrome': [26], '(FXTAS),': [27], 'including': [28, 80], 'exacerbated': [29], '(increased': [30], 'coarseness': [31], 'amplitude)': [33], 'in': [35, 46, 56, 81, 88], 'right': [37], 'arm,': [38], 'ataxic': [39], 'gait,': [40], 'brain': [42, 108], 'MRI': [43, 109], 'showed': [44], 'lesions': [45], 'bilateral': [48], 'middle': [49], 'cerebellar': [50], 'peduncles': [51], '(MCP).': [52], 'Evidence': [53], 'of': [54, 59, 63, 73], 'premutation': [55, 94], 'form': [58], '83': [60], 'CGG': [61], 'repeats': [62], 'Fragile-X-mental': [65], 'retardation': [66], '1': [67], '(FMR1)': [68], 'gene': [69, 93], 'confirmed': [70], 'diagnosis': [72], 'FXTAS.': [74], 'FXTAS': [75], 'causes': [76], 'various': [77], 'neurological': [78], 'some': [82], 'cases': [83], 'early': [90], 'stages.': [91], 'FMR1': [92], 'should': [95], 'be': [96], 'checked': [97], 'when': [98], 'patient': [100], 'develops': [101], 'intention': [102], 'tremor,': [103], 'cerebral': [104], 'dysfunction': [105], 'and/or': [106], 'a': [107], 'shows': [110], 'MCP': [111], 'lesions.': [112]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W1967263015', 'counts_by_year': [{'year': 2021, 'cited_by_count': 3}, {'year': 2020, 'cited_by_count': 1}, {'year': 2018, 'cited_by_count': 2}, {'year': 2016, 'cited_by_count': 2}, {'year': 2014, 'cited_by_count': 1}, {'year': 2012, 'cited_by_count': 1}], 'updated_date': '2024-12-08T18:31:47.327424', 'created_date': '2016-06-24'}