Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W3034846834', 'doi': 'https://doi.org/10.1212/wnl.88.16_supplement.s54.007', 'title': 'Myopalladin recessive mutations cause congenital cap myopathy (S54.007)', 'display_name': 'Myopalladin recessive mutations cause congenital cap myopathy (S54.007)', 'publication_year': 2017, 'publication_date': '2017-04-18', 'ids': {'openalex': 'https://openalex.org/W3034846834', 'doi': 'https://doi.org/10.1212/wnl.88.16_supplement.s54.007', 'mag': '3034846834'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://doi.org/10.1212/wnl.88.16_supplement.s54.007', 'pdf_url': None, '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': None, 'is_accepted': False, 'is_published': False}, 'type': 'article', 'type_crossref': 'journal-article', 'indexed_in': ['crossref'], '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/A5000707958', 'display_name': 'Edoardo Malfatti', 'orcid': 'https://orcid.org/0000-0001-7871-8600'}, 'institutions': [{'id': 'https://openalex.org/I4210113666', 'display_name': 'Institut de Myologie', 'ror': 'https://ror.org/0270xt841', 'country_code': 'FR', 'type': 'facility', 'lineage': ['https://openalex.org/I1294671590', 'https://openalex.org/I154526488', 'https://openalex.org/I39804081', 'https://openalex.org/I4210096427', 'https://openalex.org/I4210100892', 'https://openalex.org/I4210113666']}, {'id': 'https://openalex.org/I1294671590', 'display_name': 'Centre National de la Recherche Scientifique', 'ror': 'https://ror.org/02feahw73', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I1294671590']}, {'id': 'https://openalex.org/I4210097159', 'display_name': 'Assistance Publique – Hôpitaux de Paris', 'ror': 'https://ror.org/00pg5jh14', 'country_code': 'FR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210097159']}, {'id': 'https://openalex.org/I4389425387', 'display_name': 'Centre de Recherche en Myologie', 'ror': 'https://ror.org/02e3eqz10', 'country_code': None, 'type': 'facility', 'lineage': ['https://openalex.org/I154526488', 'https://openalex.org/I39804081', 'https://openalex.org/I4389425387']}, {'id': 'https://openalex.org/I39804081', 'display_name': 'Sorbonne Université', 'ror': 'https://ror.org/02en5vm52', 'country_code': 'FR', 'type': 'education', 'lineage': ['https://openalex.org/I39804081']}, {'id': 'https://openalex.org/I154526488', 'display_name': 'Inserm', 'ror': 'https://ror.org/02vjkv261', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I154526488']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Edoardo Malfatti', 'raw_affiliation_strings': ['Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GHU La Pitié-Salpêtrière, Paris, France. Unité de Morphologie Neuromusculaire, Institut de Myologie, GHU La Pitié-Salpêtrière, Paris, France. Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France Paris France'], 'affiliations': [{'raw_affiliation_string': 'Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GHU La Pitié-Salpêtrière, Paris, France. Unité de Morphologie Neuromusculaire, Institut de Myologie, GHU La Pitié-Salpêtrière, Paris, France. Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France Paris France', 'institution_ids': ['https://openalex.org/I4210113666', 'https://openalex.org/I1294671590', 'https://openalex.org/I4210097159', 'https://openalex.org/I4389425387', 'https://openalex.org/I39804081', 'https://openalex.org/I154526488']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5058837660', 'display_name': 'Xaviére Lornage', 'orcid': 'https://orcid.org/0000-0002-1342-510X'}, 'institutions': [{'id': 'https://openalex.org/I1294671590', 'display_name': 'Centre National de la Recherche Scientifique', 'ror': 'https://ror.org/02feahw73', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I1294671590']}, {'id': 'https://openalex.org/I4389425387', 'display_name': 'Centre de Recherche en Myologie', 'ror': 'https://ror.org/02e3eqz10', 'country_code': None, 'type': 'facility', 'lineage': ['https://openalex.org/I154526488', 'https://openalex.org/I39804081', 'https://openalex.org/I4389425387']}, {'id': 'https://openalex.org/I4210086872', 'display_name': 'Institut de génétique et de biologie moléculaire et cellulaire', 'ror': 'https://ror.org/0015ws592', 'country_code': 'FR', 'type': 'facility', 'lineage': ['https://openalex.org/I1294671590', 'https://openalex.org/I154526488', 'https://openalex.org/I4210086872', 'https://openalex.org/I4210096427', 'https://openalex.org/I68947357']}, {'id': 'https://openalex.org/I154526488', 'display_name': 'Inserm', 'ror': 'https://ror.org/02vjkv261', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I154526488']}, {'id': 'https://openalex.org/I68947357', 'display_name': 'Université de Strasbourg', 'ror': 'https://ror.org/00pg6eq24', 'country_code': 'FR', 'type': 'education', 'lineage': ['https://openalex.org/I68947357']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Xavière Lornage', 'raw_affiliation_strings': ['Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France. INSERM U974, Illkirch, France. CNRS, UMR7104, Illkirch, France. Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Illkirch, France Illkirch France'], 'affiliations': [{'raw_affiliation_string': 'Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France. INSERM U974, Illkirch, France. CNRS, UMR7104, Illkirch, France. Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Illkirch, France Illkirch France', 'institution_ids': ['https://openalex.org/I1294671590', 'https://openalex.org/I4389425387', 'https://openalex.org/I4210086872', 'https://openalex.org/I154526488', 'https://openalex.org/I68947357']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5083492677', 'display_name': 'Chrystel Chéraud', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I1294671590', 'display_name': 'Centre National de la Recherche Scientifique', 'ror': 'https://ror.org/02feahw73', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I1294671590']}, {'id': 'https://openalex.org/I4389425387', 'display_name': 'Centre de Recherche en Myologie', 'ror': 'https://ror.org/02e3eqz10', 'country_code': None, 'type': 'facility', 'lineage': ['https://openalex.org/I154526488', 'https://openalex.org/I39804081', 'https://openalex.org/I4389425387']}, {'id': 'https://openalex.org/I4210086872', 'display_name': 'Institut de génétique et de biologie moléculaire et cellulaire', 'ror': 'https://ror.org/0015ws592', 'country_code': 'FR', 'type': 'facility', 'lineage': ['https://openalex.org/I1294671590', 'https://openalex.org/I154526488', 'https://openalex.org/I4210086872', 'https://openalex.org/I4210096427', 'https://openalex.org/I68947357']}, {'id': 'https://openalex.org/I154526488', 'display_name': 'Inserm', 'ror': 'https://ror.org/02vjkv261', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I154526488']}, {'id': 'https://openalex.org/I68947357', 'display_name': 'Université de Strasbourg', 'ror': 'https://ror.org/00pg6eq24', 'country_code': 'FR', 'type': 'education', 'lineage': ['https://openalex.org/I68947357']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Chrystel Cheraud', 'raw_affiliation_strings': ['Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France. INSERM U974, Illkirch, France. CNRS, UMR7104, Illkirch, France. Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Illkirch, France Illkirch France'], 'affiliations': [{'raw_affiliation_string': 'Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France. INSERM U974, Illkirch, France. CNRS, UMR7104, Illkirch, France. Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Illkirch, France Illkirch France', 'institution_ids': ['https://openalex.org/I1294671590', 'https://openalex.org/I4389425387', 'https://openalex.org/I4210086872', 'https://openalex.org/I154526488', 'https://openalex.org/I68947357']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5101402607', 'display_name': 'Raphaël Schneider', 'orcid': 'https://orcid.org/0000-0002-6870-6902'}, 'institutions': [{'id': 'https://openalex.org/I1294671590', 'display_name': 'Centre National de la Recherche Scientifique', 'ror': 'https://ror.org/02feahw73', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I1294671590']}, {'id': 'https://openalex.org/I4389425387', 'display_name': 'Centre de Recherche en Myologie', 'ror': 'https://ror.org/02e3eqz10', 'country_code': None, 'type': 'facility', 'lineage': ['https://openalex.org/I154526488', 'https://openalex.org/I39804081', 'https://openalex.org/I4389425387']}, {'id': 'https://openalex.org/I4210086872', 'display_name': 'Institut de génétique et de biologie moléculaire et cellulaire', 'ror': 'https://ror.org/0015ws592', 'country_code': 'FR', 'type': 'facility', 'lineage': ['https://openalex.org/I1294671590', 'https://openalex.org/I154526488', 'https://openalex.org/I4210086872', 'https://openalex.org/I4210096427', 'https://openalex.org/I68947357']}, {'id': 'https://openalex.org/I154526488', 'display_name': 'Inserm', 'ror': 'https://ror.org/02vjkv261', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I154526488']}, {'id': 'https://openalex.org/I68947357', 'display_name': 'Université de Strasbourg', 'ror': 'https://ror.org/00pg6eq24', 'country_code': 'FR', 'type': 'education', 'lineage': ['https://openalex.org/I68947357']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Raphael Schneider', 'raw_affiliation_strings': ['Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France. INSERM U974, Illkirch, France. CNRS, UMR7104, Illkirch, France. Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Illkirch, France. Department of Computer Science, ICube, UMR 7357, CNRS, Strasbourg, France Illkirch France'], 'affiliations': [{'raw_affiliation_string': 'Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France. INSERM U974, Illkirch, France. CNRS, UMR7104, Illkirch, France. Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Illkirch, France. Department of Computer Science, ICube, UMR 7357, CNRS, Strasbourg, France Illkirch France', 'institution_ids': ['https://openalex.org/I1294671590', 'https://openalex.org/I4389425387', 'https://openalex.org/I4210086872', 'https://openalex.org/I154526488', 'https://openalex.org/I68947357']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5027904848', 'display_name': 'Valérie Biancalana', 'orcid': 'https://orcid.org/0000-0002-8988-5508'}, 'institutions': [{'id': 'https://openalex.org/I1294671590', 'display_name': 'Centre National de la Recherche Scientifique', 'ror': 'https://ror.org/02feahw73', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I1294671590']}, {'id': 'https://openalex.org/I4389425387', 'display_name': 'Centre de Recherche en Myologie', 'ror': 'https://ror.org/02e3eqz10', 'country_code': None, 'type': 'facility', 'lineage': ['https://openalex.org/I154526488', 'https://openalex.org/I39804081', 'https://openalex.org/I4389425387']}, {'id': 'https://openalex.org/I4210163538', 'display_name': 'Hôpital Civil, Strasbourg', 'ror': 'https://ror.org/05fkq4848', 'country_code': 'FR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210145324', 'https://openalex.org/I4210163538']}, {'id': 'https://openalex.org/I4210086872', 'display_name': 'Institut de génétique et de biologie moléculaire et cellulaire', 'ror': 'https://ror.org/0015ws592', 'country_code': 'FR', 'type': 'facility', 'lineage': ['https://openalex.org/I1294671590', 'https://openalex.org/I154526488', 'https://openalex.org/I4210086872', 'https://openalex.org/I4210096427', 'https://openalex.org/I68947357']}, {'id': 'https://openalex.org/I154526488', 'display_name': 'Inserm', 'ror': 'https://ror.org/02vjkv261', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I154526488']}, {'id': 'https://openalex.org/I68947357', 'display_name': 'Université de Strasbourg', 'ror': 'https://ror.org/00pg6eq24', 'country_code': 'FR', 'type': 'education', 'lineage': ['https://openalex.org/I68947357']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Valérie Biancalana', 'raw_affiliation_strings': ['Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France. INSERM U974, Illkirch, France. CNRS, UMR7104, Illkirch, France. Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Illkirch, France. Laboratoire Diagnostic Génétique, Nouvel Hôpital Civil, Strasbourg, France Illkirch France'], 'affiliations': [{'raw_affiliation_string': 'Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France. INSERM U974, Illkirch, France. CNRS, UMR7104, Illkirch, France. Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Illkirch, France. Laboratoire Diagnostic Génétique, Nouvel Hôpital Civil, Strasbourg, France Illkirch France', 'institution_ids': ['https://openalex.org/I1294671590', 'https://openalex.org/I4389425387', 'https://openalex.org/I4210163538', 'https://openalex.org/I4210086872', 'https://openalex.org/I154526488', 'https://openalex.org/I68947357']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5074361651', 'display_name': 'Jean‐Marie Cuisset', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210101212', 'display_name': 'Hôpital Roger Salengro', 'ror': 'https://ror.org/0165ax130', 'country_code': 'FR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I3018718406', 'https://openalex.org/I4210101212']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Jean-Marie Cuisset', 'raw_affiliation_strings': ['Hôpital Roger-Salengro, Service de neuropédiatrie, Centre de Référence des Maladies Neuromusculaires, CHRU, Lille, France Lille France'], 'affiliations': [{'raw_affiliation_string': 'Hôpital Roger-Salengro, Service de neuropédiatrie, Centre de Référence des Maladies Neuromusculaires, CHRU, Lille, France Lille France', 'institution_ids': ['https://openalex.org/I4210101212']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5015008175', 'display_name': 'Matteo Garibaldi', 'orcid': 'https://orcid.org/0000-0003-1830-2886'}, 'institutions': [{'id': 'https://openalex.org/I3018988418', 'display_name': 'Centre Hospitalier Universitaire de Nice', 'ror': 'https://ror.org/05qsjq305', 'country_code': 'FR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I201841394', 'https://openalex.org/I3018988418']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Matteo Garibaldi', 'raw_affiliation_strings': ['CHU, Nice Service de Neurologie, CHU Nice France'], 'affiliations': [{'raw_affiliation_string': 'CHU, Nice Service de Neurologie, CHU Nice France', 'institution_ids': ['https://openalex.org/I3018988418']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5057324753', 'display_name': 'B. Eymard', 'orcid': 'https://orcid.org/0000-0002-9142-1382'}, 'institutions': [{'id': 'https://openalex.org/I4210113666', 'display_name': 'Institut de Myologie', 'ror': 'https://ror.org/0270xt841', 'country_code': 'FR', 'type': 'facility', 'lineage': ['https://openalex.org/I1294671590', 'https://openalex.org/I154526488', 'https://openalex.org/I39804081', 'https://openalex.org/I4210096427', 'https://openalex.org/I4210100892', 'https://openalex.org/I4210113666']}, {'id': 'https://openalex.org/I1294671590', 'display_name': 'Centre National de la Recherche Scientifique', 'ror': 'https://ror.org/02feahw73', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I1294671590']}, {'id': 'https://openalex.org/I4210097159', 'display_name': 'Assistance Publique – Hôpitaux de Paris', 'ror': 'https://ror.org/00pg5jh14', 'country_code': 'FR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210097159']}, {'id': 'https://openalex.org/I4389425387', 'display_name': 'Centre de Recherche en Myologie', 'ror': 'https://ror.org/02e3eqz10', 'country_code': None, 'type': 'facility', 'lineage': ['https://openalex.org/I154526488', 'https://openalex.org/I39804081', 'https://openalex.org/I4389425387']}, {'id': 'https://openalex.org/I39804081', 'display_name': 'Sorbonne Université', 'ror': 'https://ror.org/02en5vm52', 'country_code': 'FR', 'type': 'education', 'lineage': ['https://openalex.org/I39804081']}, {'id': 'https://openalex.org/I154526488', 'display_name': 'Inserm', 'ror': 'https://ror.org/02vjkv261', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I154526488']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Bruno Eymard', 'raw_affiliation_strings': ['Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GHU La Pitié-Salpêtrière, Paris, France. Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France Paris France'], 'affiliations': [{'raw_affiliation_string': 'Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GHU La Pitié-Salpêtrière, Paris, France. Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France Paris France', 'institution_ids': ['https://openalex.org/I4210113666', 'https://openalex.org/I1294671590', 'https://openalex.org/I4210097159', 'https://openalex.org/I4389425387', 'https://openalex.org/I39804081', 'https://openalex.org/I154526488']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5033398134', 'display_name': 'Mathias Gautel', 'orcid': 'https://orcid.org/0000-0003-4027-9803'}, 'institutions': [{'id': 'https://openalex.org/I4210113666', 'display_name': 'Institut de Myologie', 'ror': 'https://ror.org/0270xt841', 'country_code': 'FR', 'type': 'facility', 'lineage': ['https://openalex.org/I1294671590', 'https://openalex.org/I154526488', 'https://openalex.org/I39804081', 'https://openalex.org/I4210096427', 'https://openalex.org/I4210100892', 'https://openalex.org/I4210113666']}, {'id': 'https://openalex.org/I39804081', 'display_name': 'Sorbonne Université', 'ror': 'https://ror.org/02en5vm52', 'country_code': 'FR', 'type': 'education', 'lineage': ['https://openalex.org/I39804081']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Michel Fardeau', 'raw_affiliation_strings': ['Unité de Morphologie Neuromusculaire, Institut de Myologie, GHU La Pitié-Salpêtrière, Paris, France Paris France'], 'affiliations': [{'raw_affiliation_string': 'Unité de Morphologie Neuromusculaire, Institut de Myologie, GHU La Pitié-Salpêtrière, Paris, France Paris France', 'institution_ids': ['https://openalex.org/I4210113666', 'https://openalex.org/I39804081']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5065730986', 'display_name': 'Anne Boland', 'orcid': 'https://orcid.org/0000-0001-8789-5676'}, 'institutions': [{'id': 'https://openalex.org/I4210115028', 'display_name': 'Genoscope', 'ror': 'https://ror.org/028pnqf58', 'country_code': 'FR', 'type': 'facility', 'lineage': ['https://openalex.org/I4210115028']}, {'id': 'https://openalex.org/I2738703131', 'display_name': "Commissariat à l'Énergie Atomique et aux Énergies Alternatives", 'ror': 'https://ror.org/00jjx8s55', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I2738703131']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Anne Boland', 'raw_affiliation_strings': ['Centre National de Génotypage, Institut de Génomique, CEA, Evry, France Evry France'], 'affiliations': [{'raw_affiliation_string': 'Centre National de Génotypage, Institut de Génomique, CEA, Evry, France Evry France', 'institution_ids': ['https://openalex.org/I4210115028', 'https://openalex.org/I2738703131']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5049107218', 'display_name': 'Jean‐François Deleuze', 'orcid': 'https://orcid.org/0000-0002-5358-4463'}, 'institutions': [{'id': 'https://openalex.org/I4210115028', 'display_name': 'Genoscope', 'ror': 'https://ror.org/028pnqf58', 'country_code': 'FR', 'type': 'facility', 'lineage': ['https://openalex.org/I4210115028']}, {'id': 'https://openalex.org/I2738703131', 'display_name': "Commissariat à l'Énergie Atomique et aux Énergies Alternatives", 'ror': 'https://ror.org/00jjx8s55', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I2738703131']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Jean-François Deleuze', 'raw_affiliation_strings': ['Centre National de Génotypage, Institut de Génomique, CEA, Evry, France Evry France'], 'affiliations': [{'raw_affiliation_string': 'Centre National de Génotypage, Institut de Génomique, CEA, Evry, France Evry France', 'institution_ids': ['https://openalex.org/I4210115028', 'https://openalex.org/I2738703131']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5039921905', 'display_name': 'Julie Thompson', 'orcid': 'https://orcid.org/0000-0003-4893-3478'}, 'institutions': [{'id': 'https://openalex.org/I68947357', 'display_name': 'Université de Strasbourg', 'ror': 'https://ror.org/00pg6eq24', 'country_code': 'FR', 'type': 'education', 'lineage': ['https://openalex.org/I68947357']}, {'id': 'https://openalex.org/I1294671590', 'display_name': 'Centre National de la Recherche Scientifique', 'ror': 'https://ror.org/02feahw73', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I1294671590']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Julie Thompson', 'raw_affiliation_strings': ['Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Illkirch, France. Department of Computer Science, ICube, UMR 7357, CNRS, Strasbourg, France Strasbourg France'], 'affiliations': [{'raw_affiliation_string': 'Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Illkirch, France. Department of Computer Science, ICube, UMR 7357, CNRS, Strasbourg, France Strasbourg France', 'institution_ids': ['https://openalex.org/I68947357', 'https://openalex.org/I1294671590']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5082974155', 'display_name': 'Johann Böhm', 'orcid': 'https://orcid.org/0000-0001-8019-9504'}, 'institutions': [{'id': 'https://openalex.org/I1294671590', 'display_name': 'Centre National de la Recherche Scientifique', 'ror': 'https://ror.org/02feahw73', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I1294671590']}, {'id': 'https://openalex.org/I4389425387', 'display_name': 'Centre de Recherche en Myologie', 'ror': 'https://ror.org/02e3eqz10', 'country_code': None, 'type': 'facility', 'lineage': ['https://openalex.org/I154526488', 'https://openalex.org/I39804081', 'https://openalex.org/I4389425387']}, {'id': 'https://openalex.org/I4210086872', 'display_name': 'Institut de génétique et de biologie moléculaire et cellulaire', 'ror': 'https://ror.org/0015ws592', 'country_code': 'FR', 'type': 'facility', 'lineage': ['https://openalex.org/I1294671590', 'https://openalex.org/I154526488', 'https://openalex.org/I4210086872', 'https://openalex.org/I4210096427', 'https://openalex.org/I68947357']}, {'id': 'https://openalex.org/I154526488', 'display_name': 'Inserm', 'ror': 'https://ror.org/02vjkv261', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I154526488']}, {'id': 'https://openalex.org/I68947357', 'display_name': 'Université de Strasbourg', 'ror': 'https://ror.org/00pg6eq24', 'country_code': 'FR', 'type': 'education', 'lineage': ['https://openalex.org/I68947357']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Johann Böhm', 'raw_affiliation_strings': ['Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France. INSERM U974, Illkirch, France. CNRS, UMR7104, Illkirch, France. Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Illkirch, France Illkirch France'], 'affiliations': [{'raw_affiliation_string': 'Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France. INSERM U974, Illkirch, France. CNRS, UMR7104, Illkirch, France. Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Illkirch, France Illkirch France', 'institution_ids': ['https://openalex.org/I1294671590', 'https://openalex.org/I4389425387', 'https://openalex.org/I4210086872', 'https://openalex.org/I154526488', 'https://openalex.org/I68947357']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5085289587', 'display_name': 'Jocelyn Laporte', 'orcid': 'https://orcid.org/0000-0001-8256-5862'}, 'institutions': [{'id': 'https://openalex.org/I4210113666', 'display_name': 'Institut de Myologie', 'ror': 'https://ror.org/0270xt841', 'country_code': 'FR', 'type': 'facility', 'lineage': ['https://openalex.org/I1294671590', 'https://openalex.org/I154526488', 'https://openalex.org/I39804081', 'https://openalex.org/I4210096427', 'https://openalex.org/I4210100892', 'https://openalex.org/I4210113666']}, {'id': 'https://openalex.org/I1294671590', 'display_name': 'Centre National de la Recherche Scientifique', 'ror': 'https://ror.org/02feahw73', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I1294671590']}, {'id': 'https://openalex.org/I4389425387', 'display_name': 'Centre de Recherche en Myologie', 'ror': 'https://ror.org/02e3eqz10', 'country_code': None, 'type': 'facility', 'lineage': ['https://openalex.org/I154526488', 'https://openalex.org/I39804081', 'https://openalex.org/I4389425387']}, {'id': 'https://openalex.org/I39804081', 'display_name': 'Sorbonne Université', 'ror': 'https://ror.org/02en5vm52', 'country_code': 'FR', 'type': 'education', 'lineage': ['https://openalex.org/I39804081']}, {'id': 'https://openalex.org/I154526488', 'display_name': 'Inserm', 'ror': 'https://ror.org/02vjkv261', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I154526488']}, {'id': 'https://openalex.org/I4210097159', 'display_name': 'Assistance Publique – Hôpitaux de Paris', 'ror': 'https://ror.org/00pg5jh14', 'country_code': 'FR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210097159']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Norma B Romero', 'raw_affiliation_strings': ['Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GHU La Pitié-Salpêtrière, Paris, France. Unité de Morphologie Neuromusculaire, Institut de Myologie, GHU La Pitié-Salpêtrière, Paris, France. Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France Paris France'], 'affiliations': [{'raw_affiliation_string': 'Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GHU La Pitié-Salpêtrière, Paris, France. Unité de Morphologie Neuromusculaire, Institut de Myologie, GHU La Pitié-Salpêtrière, Paris, France. Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France Paris France', 'institution_ids': ['https://openalex.org/I4210113666', 'https://openalex.org/I1294671590', 'https://openalex.org/I4389425387', 'https://openalex.org/I39804081', 'https://openalex.org/I154526488', 'https://openalex.org/I4210097159']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5085289587', 'display_name': 'Jocelyn Laporte', 'orcid': 'https://orcid.org/0000-0001-8256-5862'}, 'institutions': [{'id': 'https://openalex.org/I1294671590', 'display_name': 'Centre National de la Recherche Scientifique', 'ror': 'https://ror.org/02feahw73', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I1294671590']}, {'id': 'https://openalex.org/I4389425387', 'display_name': 'Centre de Recherche en Myologie', 'ror': 'https://ror.org/02e3eqz10', 'country_code': None, 'type': 'facility', 'lineage': ['https://openalex.org/I154526488', 'https://openalex.org/I39804081', 'https://openalex.org/I4389425387']}, {'id': 'https://openalex.org/I4210086872', 'display_name': 'Institut de génétique et de biologie moléculaire et cellulaire', 'ror': 'https://ror.org/0015ws592', 'country_code': 'FR', 'type': 'facility', 'lineage': ['https://openalex.org/I1294671590', 'https://openalex.org/I154526488', 'https://openalex.org/I4210086872', 'https://openalex.org/I4210096427', 'https://openalex.org/I68947357']}, {'id': 'https://openalex.org/I154526488', 'display_name': 'Inserm', 'ror': 'https://ror.org/02vjkv261', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I154526488']}, {'id': 'https://openalex.org/I68947357', 'display_name': 'Université de Strasbourg', 'ror': 'https://ror.org/00pg6eq24', 'country_code': 'FR', 'type': 'education', 'lineage': ['https://openalex.org/I68947357']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Jocelyn Laporte', 'raw_affiliation_strings': ['Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France. INSERM U974, Illkirch, France. CNRS, UMR7104, Illkirch, France. Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Illkirch, France Illkirch France'], 'affiliations': [{'raw_affiliation_string': 'Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France. INSERM U974, Illkirch, France. CNRS, UMR7104, Illkirch, France. Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Illkirch, France Illkirch France', 'institution_ids': ['https://openalex.org/I1294671590', 'https://openalex.org/I4389425387', 'https://openalex.org/I4210086872', 'https://openalex.org/I154526488', 'https://openalex.org/I68947357']}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 13, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': None, 'apc_paid': None, 'fwci': 0.0, 'has_fulltext': False, 'cited_by_count': 0, 'citation_normalized_percentile': {'value': 0.0, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 0, 'max': 64}, 'biblio': {'volume': '88', 'issue': '16_supplement', 'first_page': None, 'last_page': None}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T10882', 'display_name': 'Diagnosis and Management of Hypertrophic Cardiomyopathy', 'score': 0.9855, 'subfield': {'id': 'https://openalex.org/subfields/2705', 'display_name': 'Cardiology and Cardiovascular Medicine'}, '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/T10882', 'display_name': 'Diagnosis and Management of Hypertrophic Cardiomyopathy', 'score': 0.9855, 'subfield': {'id': 'https://openalex.org/subfields/2705', 'display_name': 'Cardiology and Cardiovascular Medicine'}, '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/T10441', 'display_name': 'Molecular Mechanisms of Muscle Regeneration and Atrophy', 'score': 0.979, '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/T11841', 'display_name': 'Structure and Function of the Nuclear Pore Complex', 'score': 0.9641, '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/titin-mutations', 'display_name': 'Titin Mutations', 'score': 0.468916}], 'concepts': [{'id': 'https://openalex.org/C2777300911', 'wikidata': 'https://www.wikidata.org/wiki/Q692536', 'display_name': 'Myopathy', 'level': 2, 'score': 0.5971124}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.47220287}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.3621559}], 'mesh': [], 'locations_count': 1, 'locations': [{'is_oa': False, 'landing_page_url': 'https://doi.org/10.1212/wnl.88.16_supplement.s54.007', 'pdf_url': None, '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': None, 'is_accepted': False, 'is_published': False}], 'best_oa_location': None, 'sustainable_development_goals': [{'id': 'https://metadata.un.org/sdg/3', 'display_name': 'Good health and well-being', 'score': 0.65}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 0, 'referenced_works': [], 'related_works': ['https://openalex.org/W4234157524', 'https://openalex.org/W2788277189', 'https://openalex.org/W2151865869', 'https://openalex.org/W2130076355', 'https://openalex.org/W2119695867', 'https://openalex.org/W2117258802', 'https://openalex.org/W2082860237', 'https://openalex.org/W2013243191', 'https://openalex.org/W1993764875', 'https://openalex.org/W1990804418'], 'abstract_inverted_index': {'To': [0], 'identify': [1], 'the': [2], 'causative': [3], 'gene': [4], 'in': [5, 15], 'three': [6], 'patients': [7], 'presenting': [8], 'progressive': [9], 'congenital': [10], 'myopathy': [11], 'and': [12], 'cap': [13], 'structures': [14], 'skeletal': [16], 'muscle.': [17]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W3034846834', 'counts_by_year': [], 'updated_date': '2024-09-19T23:21:37.210918', 'created_date': '2020-06-19'}