Publication Information

{'id': 'https://openalex.org/W2569244359', 'doi': 'https://doi.org/10.1093/brain/aww343', 'title': '<i>COL6A5</i>variants in familial neuropathic chronic itch', 'display_name': '<i>COL6A5</i>variants in familial neuropathic chronic itch', 'publication_year': 2016, 'publication_date': '2016-12-08', 'ids': {'openalex': 'https://openalex.org/W2569244359', 'doi': 'https://doi.org/10.1093/brain/aww343', 'mag': '2569244359', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/28073787'}, 'language': 'en', 'primary_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1093/brain/aww343', 'pdf_url': 'https://academic.oup.com/brain/article-pdf/140/3/555/18245242/aww343.pdf', 'source': {'id': 'https://openalex.org/S118357697', 'display_name': 'Brain', 'issn_l': '0006-8950', 'issn': ['0006-8950', '1460-2156'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310311648', 'host_organization_name': 'Oxford University Press', 'host_organization_lineage': ['https://openalex.org/P4310311647', 'https://openalex.org/P4310311648'], 'host_organization_lineage_names': ['University of Oxford', 'Oxford University Press'], '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://academic.oup.com/brain/article-pdf/140/3/555/18245242/aww343.pdf', 'any_repository_has_fulltext': True}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5088533613', 'display_name': 'Filippo Martinelli Boneschi', 'orcid': 'https://orcid.org/0000-0002-9955-1368'}, 'institutions': [], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'Filippo Martinelli-Boneschi', 'raw_affiliation_strings': ['Laboratory of Human Genetics of Neurological Disorders and Department of Neurology, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy'], 'affiliations': [{'raw_affiliation_string': 'Laboratory of Human Genetics of Neurological Disorders and Department of Neurology, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5061153719', 'display_name': 'Marina Colombi', 'orcid': 'https://orcid.org/0000-0002-3105-5990'}, 'institutions': [{'id': 'https://openalex.org/I79940851', 'display_name': 'University of Brescia', 'ror': 'https://ror.org/02q2d2610', 'country_code': 'IT', 'type': 'education', 'lineage': ['https://openalex.org/I79940851']}], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'Marina Colombi', 'raw_affiliation_strings': ['Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy'], 'affiliations': [{'raw_affiliation_string': 'Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy', 'institution_ids': ['https://openalex.org/I79940851']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5038724562', 'display_name': 'Marco Castori', 'orcid': 'https://orcid.org/0000-0002-6069-0993'}, 'institutions': [{'id': 'https://openalex.org/I4210153088', 'display_name': 'Carlo Forlanini Hospital', 'ror': 'https://ror.org/04z5vy146', 'country_code': 'IT', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210153088']}], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'Marco Castori', 'raw_affiliation_strings': ['Unit of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy'], 'affiliations': [{'raw_affiliation_string': 'Unit of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy', 'institution_ids': ['https://openalex.org/I4210153088']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5089796603', 'display_name': 'Grazia Devigili', 'orcid': 'https://orcid.org/0000-0001-9688-4231'}, 'institutions': [{'id': 'https://openalex.org/I4210126152', 'display_name': 'Ospedale Santa Maria della Misericordia di Udine', 'ror': 'https://ror.org/02zpc2253', 'country_code': 'IT', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210126152']}], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'Grazia Devigili', 'raw_affiliation_strings': ['Neurological Unit, University-Hospital "S. 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'intraepidermal': [110], 'nerve': [111], 'fibre': [112, 117, 206], 'density': [113], 'consistent': [114], 'small': [116, 205], 'neuropathy.': [118], 'Whole': [119], 'exome': [120], 'sequencing': [121], 'identified': [122], 'two': [123, 188], 'COL6A5': [124, 249, 256, 287], 'rare': [125, 191], 'variants': [126, 177, 189], 'co-segregating': [127], 'absent': [136, 202], 'non-affected': [138], 'members,': [139], 'unrelated': [143], 'sporadic': [144], 'patient': [145, 160], '1': [148], 'painless': [149], 'diabetic': [150, 159], 'neuropathy': [151, 207], 'itch.': [154, 213], 'Two': [155], 'families': [156, 223], 'carried': [161, 170], 'nonsense': [163, 226, 235, 265], 'c.6814G>T': [164], '(p.Glu2272*)': [165], 'variant': [166, 227], 'another': [168], 'family': [169], 'missense': [172], 'c.6486G>C': [173], '(p.Arg2162Ser)': [174], 'variant.': [175, 266], 'Both': [176], 'were': [178, 190], 'predicted': [179], 'as': [180], 'likely': [181], 'pathogenic': [182], 'silico': [185], 'analyses.': 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