Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W1995839968', 'doi': 'https://doi.org/10.1038/ng1081', 'title': 'Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump α2 subunit associated with familial hemiplegic migraine type 2', 'display_name': 'Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump α2 subunit associated with familial hemiplegic migraine type 2', 'publication_year': 2003, 'publication_date': '2003-01-21', 'ids': {'openalex': 'https://openalex.org/W1995839968', 'doi': 'https://doi.org/10.1038/ng1081', 'mag': '1995839968', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/12539047'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://doi.org/10.1038/ng1081', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S137905309', 'display_name': 'Nature Genetics', 'issn_l': '1061-4036', 'issn': ['1061-4036', '1546-1718'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310319908', 'host_organization_name': 'Nature Portfolio', 'host_organization_lineage': ['https://openalex.org/P4310319908', 'https://openalex.org/P4310319965'], 'host_organization_lineage_names': ['Nature Portfolio', 'Springer Nature'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, 'type': 'article', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', 'pubmed'], 'open_access': {'is_oa': False, 'oa_status': 'closed', 'oa_url': None, 'any_repository_has_fulltext': False}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5103246756', 'display_name': 'Maurizio De Fusco', 'orcid': 'https://orcid.org/0000-0003-1338-9548'}, 'institutions': [], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'Maurizio De Fusco', 'raw_affiliation_strings': ['Human Molecular Genetics Unit, Dibit–San Raffaele Scientific Institute, Via Olgettina 58, Milan, 20132, Italy'], 'affiliations': [{'raw_affiliation_string': 'Human Molecular Genetics Unit, Dibit–San Raffaele Scientific Institute, Via Olgettina 58, Milan, 20132, Italy', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5085247495', 'display_name': 'Roberto Ceravolo', 'orcid': 'https://orcid.org/0000-0003-1412-9406'}, 'institutions': [{'id': 'https://openalex.org/I4210139042', 'display_name': 'Ospedale Misericordia - Grosseto', 'ror': 'https://ror.org/04dyqmv49', 'country_code': 'IT', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210139042']}], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'Roberto Marconi', 'raw_affiliation_strings': ['Department of Neurology, Misericordia Hospital, Grosseto, Italy'], 'affiliations': [{'raw_affiliation_string': 'Department of Neurology, Misericordia Hospital, Grosseto, Italy', 'institution_ids': ['https://openalex.org/I4210139042']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5081960790', 'display_name': 'Laura Silvestri', 'orcid': 'https://orcid.org/0000-0002-8726-9808'}, 'institutions': [], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'Laura Silvestri', 'raw_affiliation_strings': ['Human Molecular Genetics Unit, Dibit–San Raffaele Scientific Institute, Via Olgettina 58, Milan, 20132, Italy'], 'affiliations': [{'raw_affiliation_string': 'Human Molecular Genetics Unit, Dibit–San Raffaele Scientific Institute, Via Olgettina 58, Milan, 20132, Italy', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5025310907', 'display_name': 'Luigia Atorino', 'orcid': None}, 'institutions': [], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'Luigia Atorino', 'raw_affiliation_strings': ['Human Molecular Genetics Unit, Dibit–San Raffaele Scientific Institute, Via Olgettina 58, Milan, 20132, Italy'], 'affiliations': [{'raw_affiliation_string': 'Human Molecular Genetics Unit, Dibit–San Raffaele Scientific Institute, Via Olgettina 58, Milan, 20132, Italy', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5045173786', 'display_name': 'Luca Rampoldi', 'orcid': 'https://orcid.org/0000-0002-0544-7042'}, 'institutions': [], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'Luca Rampoldi', 'raw_affiliation_strings': ['Human Molecular Genetics Unit, Dibit–San Raffaele Scientific Institute, Via Olgettina 58, Milan, 20132, Italy'], 'affiliations': [{'raw_affiliation_string': 'Human Molecular Genetics Unit, Dibit–San Raffaele Scientific Institute, Via Olgettina 58, Milan, 20132, Italy', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5054250413', 'display_name': 'Francesca Morgante', 'orcid': 'https://orcid.org/0000-0002-9834-3639'}, 'institutions': [{'id': 'https://openalex.org/I112862951', 'display_name': 'University of Messina', 'ror': 'https://ror.org/05ctdxz19', 'country_code': 'IT', 'type': 'education', 'lineage': ['https://openalex.org/I112862951']}], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'Letterio Morgante', 'raw_affiliation_strings': ['Department of Neurosciences, University of Messina, Messina, Italy'], 'affiliations': [{'raw_affiliation_string': 'Department of Neurosciences, University of Messina, Messina, Italy', 'institution_ids': ['https://openalex.org/I112862951']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5077487765', 'display_name': 'Andrea Ballabio', 'orcid': 'https://orcid.org/0000-0003-1381-4604'}, 'institutions': [{'id': 'https://openalex.org/I4210152213', 'display_name': 'Telethon Institute Of Genetics And Medicine', 'ror': 'https://ror.org/04xfdsg27', 'country_code': 'IT', 'type': 'facility', 'lineage': ['https://openalex.org/I4210152213']}], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'Andrea Ballabio', 'raw_affiliation_strings': ['Telethon Institute of Genetics and Medicine and Faculty of Medicine, II University, Naples, Italy'], 'affiliations': [{'raw_affiliation_string': 'Telethon Institute of Genetics and Medicine and Faculty of Medicine, II University, Naples, Italy', 'institution_ids': ['https://openalex.org/I4210152213']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5049629978', 'display_name': 'Paolo Aridon', 'orcid': 'https://orcid.org/0000-0002-7424-9533'}, 'institutions': [], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'Paolo Aridon', 'raw_affiliation_strings': ['Human Molecular Genetics Unit, Dibit–San Raffaele Scientific Institute, Via Olgettina 58, Milan, 20132, Italy'], 'affiliations': [{'raw_affiliation_string': 'Human Molecular Genetics Unit, Dibit–San Raffaele Scientific Institute, Via Olgettina 58, Milan, 20132, Italy', 'institution_ids': []}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5083188517', 'display_name': 'Giorgio Casari', 'orcid': 'https://orcid.org/0000-0002-0115-8980'}, 'institutions': [], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'Giorgio Casari', 'raw_affiliation_strings': ['Human Molecular Genetics Unit, Dibit–San Raffaele Scientific Institute, Via Olgettina 58, Milan, 20132, Italy'], 'affiliations': [{'raw_affiliation_string': 'Human Molecular Genetics Unit, Dibit–San Raffaele Scientific Institute, Via Olgettina 58, Milan, 20132, Italy', 'institution_ids': []}]}], 'countries_distinct_count': 1, 'institutions_distinct_count': 3, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': {'value': 9750, 'currency': 'EUR', 'value_usd': 11690, 'provenance': 'doaj'}, 'apc_paid': None, 'fwci': 35.494, 'has_fulltext': False, 'cited_by_count': 933, 'citation_normalized_percentile': {'value': 0.999844, 'is_in_top_1_percent': True, 'is_in_top_10_percent': True}, 'cited_by_percentile_year': {'min': 99, 'max': 100}, 'biblio': {'volume': '33', 'issue': '2', 'first_page': '192', 'last_page': '196'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T10498', 'display_name': 'Migraine Pathophysiology and Treatment', 'score': 1.0, 'subfield': {'id': 'https://openalex.org/subfields/2738', 'display_name': 'Psychiatry and Mental health'}, '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/T10498', 'display_name': 'Migraine Pathophysiology and Treatment', 'score': 1.0, 'subfield': {'id': 'https://openalex.org/subfields/2738', 'display_name': 'Psychiatry and Mental health'}, '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/T11456', 'display_name': 'Neural Mechanisms of Respiratory Control and Homeostasis', 'score': 0.9797, 'subfield': {'id': 'https://openalex.org/subfields/2807', 'display_name': 'Endocrine and Autonomic Systems'}, '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/T12625', 'display_name': 'Prevalence and Treatment of Hyperhidrosis', 'score': 0.9699, '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'}}], 'keywords': [{'id': 'https://openalex.org/keywords/familial-hemiplegic-migraine', 'display_name': 'Familial hemiplegic migraine', 'score': 0.97439677}, {'id': 'https://openalex.org/keywords/migraine', 'display_name': 'Migraine', 'score': 0.556864}, {'id': 'https://openalex.org/keywords/migraine-prevention', 'display_name': 'Migraine Prevention', 'score': 0.501764}, {'id': 'https://openalex.org/keywords/haploinsufficiency', 'display_name': 'Haploinsufficiency', 'score': 0.49784088}], 'concepts': [{'id': 'https://openalex.org/C2778042195', 'wikidata': 'https://www.wikidata.org/wiki/Q3312899', 'display_name': 'Familial hemiplegic migraine', 'level': 5, 'score': 0.97439677}, {'id': 'https://openalex.org/C2776497919', 'wikidata': 'https://www.wikidata.org/wiki/Q739481', 'display_name': 'Migraine with aura', 'level': 4, 'score': 0.78687835}, {'id': 'https://openalex.org/C2777350023', 'wikidata': 'https://www.wikidata.org/wiki/Q1154226', 'display_name': 'Aura', 'level': 3, 'score': 0.7396928}, {'id': 'https://openalex.org/C2778541695', 'wikidata': 'https://www.wikidata.org/wiki/Q133823', 'display_name': 'Migraine', 'level': 2, 'score': 0.6828359}, {'id': 'https://openalex.org/C2908647359', 'wikidata': 'https://www.wikidata.org/wiki/Q2625603', 'display_name': 'Population', 'level': 2, 'score': 0.5714586}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.5299935}, {'id': 'https://openalex.org/C180754005', 'wikidata': 'https://www.wikidata.org/wiki/Q80726', 'display_name': 'Allele', 'level': 3, 'score': 0.5013232}, {'id': 'https://openalex.org/C68838962', 'wikidata': 'https://www.wikidata.org/wiki/Q852654', 'display_name': 'Haploinsufficiency', 'level': 4, 'score': 0.49784088}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.36885738}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.36398792}, {'id': 'https://openalex.org/C126322002', 'wikidata': 'https://www.wikidata.org/wiki/Q11180', 'display_name': 'Internal medicine', 'level': 1, 'score': 0.22337839}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.1906544}, {'id': 'https://openalex.org/C127716648', 'wikidata': 'https://www.wikidata.org/wiki/Q104053', 'display_name': 'Phenotype', 'level': 3, 'score': 0.08572394}, {'id': 'https://openalex.org/C99454951', 'wikidata': 'https://www.wikidata.org/wiki/Q932068', 'display_name': 'Environmental health', 'level': 1, 'score': 0.0}], 'mesh': [{'descriptor_ui': 'D020325', 'descriptor_name': 'Migraine with Aura', 'qualifier_ui': 'Q000201', 'qualifier_name': 'enzymology', 'is_major_topic': True}, {'descriptor_ui': 'D020325', 'descriptor_name': 'Migraine with Aura', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D009154', 'descriptor_name': 'Mutation', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D000254', 'descriptor_name': 'Sodium-Potassium-Exchanging ATPase', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D000818', 'descriptor_name': 'Animals', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D001483', 'descriptor_name': 'Base Sequence', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D019556', 'descriptor_name': 'COS Cells', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D015220', 'descriptor_name': 'Calcium Channels', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D015220', 'descriptor_name': 'Calcium Channels', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D016022', 'descriptor_name': 'Case-Control Studies', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002470', 'descriptor_name': 'Cell Survival', 'qualifier_ui': 'Q000187', 'qualifier_name': 'drug effects', 'is_major_topic': False}, {'descriptor_ui': 'D002470', 'descriptor_name': 'Cell Survival', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002522', 'descriptor_name': 'Chlorocebus aethiops', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002851', 'descriptor_name': 'Chromatography, High Pressure Liquid', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002878', 'descriptor_name': 'Chromosomes, Human, Pair 1', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D002878', 'descriptor_name': 'Chromosomes, Human, Pair 1', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D004351', 'descriptor_name': 'Drug Resistance', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D004791', 'descriptor_name': 'Enzyme Inhibitors', 'qualifier_ui': 'Q000494', 'qualifier_name': 'pharmacology', 'is_major_topic': False}, {'descriptor_ui': 'D004791', 'descriptor_name': 'Enzyme Inhibitors', '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': 'D006238', 'descriptor_name': 'Haploidy', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006367', 'descriptor_name': 'HeLa Cells', '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': 'D020325', 'descriptor_name': 'Migraine with Aura', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008969', 'descriptor_name': 'Molecular Sequence Data', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D016297', 'descriptor_name': 'Mutagenesis, Site-Directed', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D010042', 'descriptor_name': 'Ouabain', 'qualifier_ui': 'Q000494', 'qualifier_name': 'pharmacology', 'is_major_topic': False}, {'descriptor_ui': 'D010042', 'descriptor_name': 'Ouabain', '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': 'D010446', 'descriptor_name': 'Peptide Fragments', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D000254', 'descriptor_name': 'Sodium-Potassium-Exchanging ATPase', 'qualifier_ui': 'Q000378', 'qualifier_name': 'metabolism', 'is_major_topic': False}, {'descriptor_ui': 'D000254', 'descriptor_name': 'Sodium-Potassium-Exchanging ATPase', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D014162', 'descriptor_name': 'Transfection', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 2, 'locations': [{'is_oa': False, 'landing_page_url': 'https://doi.org/10.1038/ng1081', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S137905309', 'display_name': 'Nature Genetics', 'issn_l': '1061-4036', 'issn': ['1061-4036', '1546-1718'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310319908', 'host_organization_name': 'Nature Portfolio', 'host_organization_lineage': ['https://openalex.org/P4310319908', 'https://openalex.org/P4310319965'], 'host_organization_lineage_names': ['Nature Portfolio', 'Springer Nature'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/12539047', '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': None, 'sustainable_development_goals': [], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 26, 'referenced_works': ['https://openalex.org/W1517936476', 'https://openalex.org/W1542067597', 'https://openalex.org/W1841463848', 'https://openalex.org/W1950635443', 'https://openalex.org/W1976817332', 'https://openalex.org/W1981285843', 'https://openalex.org/W1986094136', 'https://openalex.org/W1991506895', 'https://openalex.org/W1993943341', 'https://openalex.org/W1994800580', 'https://openalex.org/W2016082167', 'https://openalex.org/W2025197615', 'https://openalex.org/W2045765126', 'https://openalex.org/W2052659309', 'https://openalex.org/W2069032331', 'https://openalex.org/W2069153809', 'https://openalex.org/W2073404613', 'https://openalex.org/W2087030391', 'https://openalex.org/W2116672207', 'https://openalex.org/W2132595000', 'https://openalex.org/W2158115952', 'https://openalex.org/W2217637761', 'https://openalex.org/W2338767889', 'https://openalex.org/W2341150623', 'https://openalex.org/W2987408155', 'https://openalex.org/W4285719527'], 'related_works': ['https://openalex.org/W4212949978', 'https://openalex.org/W37817669', 'https://openalex.org/W2976521559', 'https://openalex.org/W2391226998', 'https://openalex.org/W2163959956', 'https://openalex.org/W2091795631', 'https://openalex.org/W2090049567', 'https://openalex.org/W2090042998', 'https://openalex.org/W2089758442', 'https://openalex.org/W2050373339'], 'abstract_inverted_index': None, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W1995839968', 'counts_by_year': [{'year': 2024, 'cited_by_count': 16}, {'year': 2023, 'cited_by_count': 26}, {'year': 2022, 'cited_by_count': 26}, {'year': 2021, 'cited_by_count': 28}, {'year': 2020, 'cited_by_count': 23}, {'year': 2019, 'cited_by_count': 24}, {'year': 2018, 'cited_by_count': 32}, {'year': 2017, 'cited_by_count': 31}, {'year': 2016, 'cited_by_count': 38}, {'year': 2015, 'cited_by_count': 34}, {'year': 2014, 'cited_by_count': 36}, {'year': 2013, 'cited_by_count': 64}, {'year': 2012, 'cited_by_count': 58}], 'updated_date': '2024-09-09T11:55:23.580626', 'created_date': '2016-06-24'}