Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W2030582726', 'doi': 'https://doi.org/10.1055/s-0032-1315431', 'title': 'Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutations in Thymidine Phosphorylase Gene in Two Italian Brothers', 'display_name': 'Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutations in Thymidine Phosphorylase Gene in Two Italian Brothers', 'publication_year': 2012, 'publication_date': '2012-05-22', 'ids': {'openalex': 'https://openalex.org/W2030582726', 'doi': 'https://doi.org/10.1055/s-0032-1315431', 'mag': '2030582726', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/22618301'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://doi.org/10.1055/s-0032-1315431', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S44923075', 'display_name': 'Neuropediatrics', 'issn_l': '0174-304X', 'issn': ['0174-304X', '1439-1899'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320000', 'host_organization_name': 'Thieme Medical Publishers (Germany)', 'host_organization_lineage': ['https://openalex.org/P4310320000'], 'host_organization_lineage_names': ['Thieme Medical Publishers (Germany)'], '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/A5056005810', 'display_name': 'Laura Libernini', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I861853513', 'display_name': 'Sapienza University of Rome', 'ror': 'https://ror.org/02be6w209', 'country_code': 'IT', 'type': 'education', 'lineage': ['https://openalex.org/I861853513']}], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'Laura Libernini', 'raw_affiliation_strings': ['Division of Pediatric Neurology, Department of Pediatrics, Child Neurology and Psychiatry, La Sapienza-University of Rome, Rome, Italy'], 'affiliations': [{'raw_affiliation_string': 'Division of Pediatric Neurology, Department of Pediatrics, Child Neurology and Psychiatry, La Sapienza-University of Rome, Rome, Italy', 'institution_ids': ['https://openalex.org/I861853513']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5082741326', 'display_name': 'Chiara Lupis', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I861853513', 'display_name': 'Sapienza University of Rome', 'ror': 'https://ror.org/02be6w209', 'country_code': 'IT', 'type': 'education', 'lineage': ['https://openalex.org/I861853513']}], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'Chiara Lupis', 'raw_affiliation_strings': ['Division of Pediatric Neurology, Department of Pediatrics, Child Neurology and Psychiatry, La Sapienza-University of Rome, Rome, Italy'], 'affiliations': [{'raw_affiliation_string': 'Division of Pediatric Neurology, Department of Pediatrics, Child Neurology and Psychiatry, La Sapienza-University of Rome, Rome, Italy', 'institution_ids': ['https://openalex.org/I861853513']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5026589292', 'display_name': 'Mario Mastrangelo', 'orcid': 'https://orcid.org/0000-0001-7664-5807'}, 'institutions': [{'id': 'https://openalex.org/I861853513', 'display_name': 'Sapienza University of Rome', 'ror': 'https://ror.org/02be6w209', 'country_code': 'IT', 'type': 'education', 'lineage': ['https://openalex.org/I861853513']}], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'Mario Mastrangelo', 'raw_affiliation_strings': ['Division of Pediatric Neurology, Department of Pediatrics, Child Neurology and Psychiatry, La Sapienza-University of Rome, Rome, Italy'], 'affiliations': [{'raw_affiliation_string': 'Division of Pediatric Neurology, Department of Pediatrics, Child Neurology and Psychiatry, La Sapienza-University of Rome, Rome, Italy', 'institution_ids': ['https://openalex.org/I861853513']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5029377107', 'display_name': 'Rosalba Carrozzo', 'orcid': 'https://orcid.org/0000-0002-3327-4054'}, 'institutions': [{'id': 'https://openalex.org/I4210123352', 'display_name': "Bambino Gesù Children's Hospital", 'ror': 'https://ror.org/02sy42d13', 'country_code': 'IT', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210123352', 'https://openalex.org/I4210153126']}], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'Rosalba Carrozzo', 'raw_affiliation_strings': ['Division of Molecular Medicine, Bambino Gesù Children Hospital, Rome, Italy'], 'affiliations': [{'raw_affiliation_string': 'Division of Molecular Medicine, Bambino Gesù Children Hospital, Rome, Italy', 'institution_ids': ['https://openalex.org/I4210123352']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5068237948', 'display_name': 'Filippo M. Santorelli', 'orcid': 'https://orcid.org/0000-0002-1359-9062'}, 'institutions': [{'id': 'https://openalex.org/I4210126460', 'display_name': 'Fondazione Stella Maris', 'ror': 'https://ror.org/02w8ez808', 'country_code': 'IT', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210126460', 'https://openalex.org/I4210153126']}], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'Filippo Santorelli', 'raw_affiliation_strings': ['Department of Molecular Medicine for Neurodegenerative Disease, Stella Maris Foundation, Pisa, Italy'], 'affiliations': [{'raw_affiliation_string': 'Department of Molecular Medicine for Neurodegenerative Disease, Stella Maris Foundation, Pisa, Italy', 'institution_ids': ['https://openalex.org/I4210126460']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5003172727', 'display_name': 'Maurizio Inghilleri', 'orcid': 'https://orcid.org/0000-0001-5365-3417'}, 'institutions': [{'id': 'https://openalex.org/I861853513', 'display_name': 'Sapienza University of Rome', 'ror': 'https://ror.org/02be6w209', 'country_code': 'IT', 'type': 'education', 'lineage': ['https://openalex.org/I861853513']}], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'Maurizio Inghilleri', 'raw_affiliation_strings': ['Department of Neurology, La Sapienza-University of Rome, Rome, Italy'], 'affiliations': [{'raw_affiliation_string': 'Department of Neurology, La Sapienza-University of Rome, Rome, Italy', 'institution_ids': ['https://openalex.org/I861853513']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5041511891', 'display_name': 'Vincenzo Leuzzi', 'orcid': 'https://orcid.org/0000-0002-2314-6139'}, 'institutions': [{'id': 'https://openalex.org/I861853513', 'display_name': 'Sapienza University of Rome', 'ror': 'https://ror.org/02be6w209', 'country_code': 'IT', 'type': 'education', 'lineage': ['https://openalex.org/I861853513']}], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'Vincenzo Leuzzi', 'raw_affiliation_strings': ['Division of Pediatric Neurology, Department of Pediatrics, Child Neurology and Psychiatry, La Sapienza-University of Rome, Rome, Italy'], 'affiliations': [{'raw_affiliation_string': 'Division of Pediatric Neurology, Department of Pediatrics, Child Neurology and Psychiatry, La Sapienza-University of Rome, Rome, Italy', 'institution_ids': ['https://openalex.org/I861853513']}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 3, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': None, 'apc_paid': None, 'fwci': 0.765, 'has_fulltext': True, 'fulltext_origin': 'ngrams', 'cited_by_count': 17, 'citation_normalized_percentile': {'value': 0.773992, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 88, 'max': 89}, 'biblio': {'volume': '43', 'issue': '04', 'first_page': '201', 'last_page': '208'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T10301', 'display_name': 'Mitochondrial Function and Pathology', 'score': 0.9999, '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'}}, 'topics': [{'id': 'https://openalex.org/T10301', 'display_name': 'Mitochondrial Function and Pathology', 'score': 0.9999, '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'}}, {'id': 'https://openalex.org/T11027', 'display_name': 'Metabolism and Genetic Disorders', 'score': 0.9989, 'subfield': {'id': 'https://openalex.org/subfields/1308', 'display_name': 'Clinical Biochemistry'}, '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/T10631', 'display_name': 'Cancer, Hypoxia, and Metabolism', 'score': 0.997, 'subfield': {'id': 'https://openalex.org/subfields/1306', 'display_name': 'Cancer Research'}, '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/thymidine-phosphorylase', 'display_name': 'Thymidine phosphorylase', 'score': 0.95481694}], 'concepts': [{'id': 'https://openalex.org/C2776735402', 'wikidata': 'https://www.wikidata.org/wiki/Q22038268', 'display_name': 'Thymidine phosphorylase', 'level': 3, 'score': 0.95481694}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.65894216}, {'id': 'https://openalex.org/C24586158', 'wikidata': 'https://www.wikidata.org/wiki/Q27075', 'display_name': 'Mitochondrial DNA', 'level': 3, 'score': 0.6124641}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.5901192}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.5865073}, {'id': 'https://openalex.org/C501734568', 'wikidata': 'https://www.wikidata.org/wiki/Q42918', 'display_name': 'Mutation', 'level': 3, 'score': 0.44362372}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.22332847}, {'id': 'https://openalex.org/C121608353', 'wikidata': 'https://www.wikidata.org/wiki/Q12078', 'display_name': 'Cancer', 'level': 2, 'score': 0.06621322}], 'mesh': [{'descriptor_ui': 'D007418', 'descriptor_name': 'Intestinal Pseudo-Obstruction', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D017237', 'descriptor_name': 'Mitochondrial Encephalomyopathies', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D009154', 'descriptor_name': 'Mutation', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D035781', 'descriptor_name': 'Siblings', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D013939', 'descriptor_name': 'Thymidine Phosphorylase', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D000293', 'descriptor_name': 'Adolescent', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D001921', 'descriptor_name': 'Brain', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D001921', 'descriptor_name': 'Brain', 'qualifier_ui': 'Q000473', 'qualifier_name': 'pathology', 'is_major_topic': False}, {'descriptor_ui': 'D004252', 'descriptor_name': 'DNA Mutational Analysis', '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': 'D007418', 'descriptor_name': 'Intestinal Pseudo-Obstruction', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D007418', 'descriptor_name': 'Intestinal Pseudo-Obstruction', 'qualifier_ui': 'Q000473', 'qualifier_name': 'pathology', 'is_major_topic': False}, {'descriptor_ui': 'D007558', 'descriptor_name': 'Italy', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008279', 'descriptor_name': 'Magnetic Resonance Imaging', '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': 'D017237', 'descriptor_name': 'Mitochondrial Encephalomyopathies', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D017237', 'descriptor_name': 'Mitochondrial Encephalomyopathies', 'qualifier_ui': 'Q000473', 'qualifier_name': 'pathology', 'is_major_topic': False}, {'descriptor_ui': 'D039141', 'descriptor_name': 'Muscular Dystrophy, Oculopharyngeal', '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': 'D009886', 'descriptor_name': 'Ophthalmoplegia', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D009886', 'descriptor_name': 'Ophthalmoplegia', 'qualifier_ui': 'Q000151', 'qualifier_name': 'congenital', 'is_major_topic': False}, {'descriptor_ui': 'D013939', 'descriptor_name': 'Thymidine Phosphorylase', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 2, 'locations': [{'is_oa': False, 'landing_page_url': 'https://doi.org/10.1055/s-0032-1315431', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S44923075', 'display_name': 'Neuropediatrics', 'issn_l': '0174-304X', 'issn': ['0174-304X', '1439-1899'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320000', 'host_organization_name': 'Thieme Medical Publishers (Germany)', 'host_organization_lineage': ['https://openalex.org/P4310320000'], 'host_organization_lineage_names': ['Thieme Medical Publishers (Germany)'], '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/22618301', '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': [{'display_name': 'Good health and well-being', 'id': 'https://metadata.un.org/sdg/3', 'score': 0.71}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 45, 'referenced_works': ['https://openalex.org/W122441101', 'https://openalex.org/W1563954480', 'https://openalex.org/W1965060248', 'https://openalex.org/W1967689030', 'https://openalex.org/W1972220319', 'https://openalex.org/W1986763522', 'https://openalex.org/W1993103503', 'https://openalex.org/W1994623311', 'https://openalex.org/W1996083234', 'https://openalex.org/W2001143187', 'https://openalex.org/W2002389510', 'https://openalex.org/W2002897368', 'https://openalex.org/W2011203975', 'https://openalex.org/W2011440459', 'https://openalex.org/W2011602622', 'https://openalex.org/W2017304651', 'https://openalex.org/W2020182709', 'https://openalex.org/W2023611793', 'https://openalex.org/W2027909374', 'https://openalex.org/W2038368310', 'https://openalex.org/W2040175538', 'https://openalex.org/W2043920158', 'https://openalex.org/W2044213146', 'https://openalex.org/W2047825715', 'https://openalex.org/W2050142915', 'https://openalex.org/W2060439312', 'https://openalex.org/W2065450249', 'https://openalex.org/W2069815744', 'https://openalex.org/W2081675603', 'https://openalex.org/W2084527993', 'https://openalex.org/W2087367417', 'https://openalex.org/W2095554621', 'https://openalex.org/W2102112598', 'https://openalex.org/W2105296631', 'https://openalex.org/W2106472777', 'https://openalex.org/W2116642569', 'https://openalex.org/W2117803495', 'https://openalex.org/W2131244437', 'https://openalex.org/W2137518972', 'https://openalex.org/W2139144665', 'https://openalex.org/W2140642543', 'https://openalex.org/W2150564743', 'https://openalex.org/W2169143920', 'https://openalex.org/W2171560597', 'https://openalex.org/W2886892340'], 'related_works': ['https://openalex.org/W4244505893', 'https://openalex.org/W2481343570', 'https://openalex.org/W2387874833', 'https://openalex.org/W2364648913', 'https://openalex.org/W2146849562', 'https://openalex.org/W2072400918', 'https://openalex.org/W2052110052', 'https://openalex.org/W2034625591', 'https://openalex.org/W2028961943', 'https://openalex.org/W1986496784'], 'abstract_inverted_index': {'Mitochondrial': [0], 'neurogastrointestinal': [1], 'encephalomyopathy': [2], '(MNGIE,': [3], 'MIM': [4], '603041)': [5], 'is': [6], 'an': [7], 'autosomal': [8], 'recessive': [9], 'multisystem': [10], 'disorder': [11], 'occurring': [12], 'due': [13], 'to': [14], 'mutations': [15, 64], 'in': [16, 47, 56, 59], 'a': [17], 'nuclear': [18], 'gene': [19, 63], 'coding': [20], 'for': [21], 'the': [22, 51], 'enzyme': [23], 'thymidine': [24], 'phosphorylase': [25], '(<i>TYMP</i>).': [26], 'Clinical': [27], 'features': [28], 'of': [29, 44], 'MNGIE': [30], 'include': [31], 'gastrointestinal': [32], 'dysmotility,': [33], 'cachexia,': [34], 'ptosis': [35], 'or': [36], 'ophthalmoparesis,': [37], 'peripheral': [38], 'neuropathy,': [39], 'diffuse': [40], 'leukoencephalopathy,': [41], 'and': [42, 53, 77], 'signs': [43], 'mitochondrial': [45], 'dysfunction': [46], 'tissues.': [48], 'We': [49], 'report': [50], 'clinical': [52, 75], 'molecular': [54], 'findings': [55], 'two': [57], 'brothers': [58], 'whom': [60], 'novel': [61], '<i>TYMP</i>': [62], '(c.215–13_215delinsGCGTGA;': [65], 'c.1159': [66], '+': [67], '2T': [68], '>': [69], 'A)': [70], 'were': [71], 'associated': [72], 'with': [73], 'different': [74], 'presentations': [76], 'outcomes.': [78]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2030582726', 'counts_by_year': [{'year': 2024, 'cited_by_count': 3}, {'year': 2022, 'cited_by_count': 1}, {'year': 2020, 'cited_by_count': 1}, {'year': 2019, 'cited_by_count': 2}, {'year': 2018, 'cited_by_count': 1}, {'year': 2016, 'cited_by_count': 2}, {'year': 2015, 'cited_by_count': 1}, {'year': 2014, 'cited_by_count': 4}, {'year': 2013, 'cited_by_count': 1}, {'year': 2012, 'cited_by_count': 1}], 'updated_date': '2025-01-09T11:16:10.909432', 'created_date': '2016-06-24'}